Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators.

Allergic bronchopulmonary aspergillosis (ABPA) results from complex hypersensitivity reactions to , which often occur in patients with asthma, cystic fibrosis (CF), or CF transmembrane conductance regulator (CFTR)-related disorders. Genetic predisposition, particularly variants of the gene, probably plays a significant role in the development of ABPA. We present the case of a 20-year-old male with ABPA and bronchiectasis that was initially misdiagnosed as a result of normal sweat chloride values and negative first-level genetic testing results.

Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project.

Background: Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research.

Methods: All 20 pediatric and adult Swiss CF centers participated in a data quality audit between 2018 and 2020, and in a re-audit in 2022.

[Phage therapy for respiratory infections].

The crisis of antibiotic resistance represents a global public health challenge, affecting particularly patients with respiratory infections. The use of (bacterio)phages for the treatment of bacterial infections (phage therapy) seems safe but its effectiveness has not yet been proven by controlled clinical trials. Nevertheless, phage therapy is regaining interest, encouraged by published cases treated successfully with personalized phage combinations as well as significant advances at a preclinical level.

Phage therapy for pulmonary infections: lessons from clinical experiences and key considerations.

Lower respiratory tract infections lead to significant morbidity and mortality. They are increasingly caused by multidrug-resistant pathogens, notably in individuals with cystic fibrosis, hospital-acquired pneumonia and lung transplantation. The use of bacteriophages (phages) to treat bacterial infections is gaining growing attention, with numerous published cases of compassionate treatment over the last few years.

Therapeutic Drug Monitoring of Ivacaftor, Lumacaftor, Tezacaftor, and Elexacaftor in Cystic Fibrosis: Where Are We Now?

Drugs modulating the cystic fibrosis transmembrane conductance regulator (CFTR) protein, namely ivacaftor, lumacaftor, tezacaftor, and elexacaftor, are currently revolutionizing the management of patients with cystic fibrosis (CF), particularly those with at least one variant (up to 85% of patients). These "caftor" drugs are mainly metabolized by cytochromes P450 3A, whose enzymatic activity is influenced by environmental factors, and are sensitive to inhibition and induction. Hence, CFTR modulators are characterized by an important interindividual pharmacokinetic variability and are also prone to drug-drug interactions.

Diagnostic tools and CFTR functional assays in cystic fibrosis: utility and availability in Switzerland.

Cystic fibrosis (CF) is a genetic disease caused by a bi-allelic mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. When the diagnosis cannot be confirmed by a positive sweat test or/and the identification of two CF-causing variants, international guidelines recommend the use of CFTR functional assays. These tests assess whether CFTR activity is normal or diminished/absent through measurement of CFTR-mediated chloride secretion/absorption.

[Hyperventilation syndrome and dysfunctional breathing : update].

Dysfunctional breathing is a group of respiratory disorders that cause dyspnea, with no organic cause, or that are disproportionate to the organ involvement. Hyperventilation syndrome is the best-known manifestation of dysfunctional breathing. It is very often associated or secondary to anxiety disorders.

[Revolution in the treatment of cystic fibrosis].

Cystic Fibrosis is a genetic disorder resulting in the absence or dysfunction of the CFTR protein, a chloride channel present on the surface of epithelia, particularly respiratory. Until recently, treatments only concerned the consequences of the disease. But a new type of molecules called « modulators », is already available to some patients and targets the origin of the disease.

Immunotherapy-Induced Airway Disease: A New Pattern of Lung Toxicity of Immune Checkpoint Inhibitors.

Immune checkpoint inhibitors (ICIs) have been shown to improve overall and progression-free survival in various cancers but have been associated with various immune-related adverse events (IRAEs), including interstitial lung disease, especially organizing pneumonia. We report 2 cases of isolated severe airway disease attributable to ICIs, a rarely reported pattern of lung toxicity. The first patient received nivolumab with or without ipilimumab in a randomized double-blind trial for locoregional metastatic melanoma.

A black-blood ultra-short echo time (UTE) sequence for 3D isotropic resolution imaging of the lungs.

Purpose: Ultra-short echo time MRI is a promising alternative to chest CT for cystic fibrosis patients. Black-blood imaging in particular could help discern small-sized anomalies, such as mucoid plugging, which may otherwise be confused with neighboring blood vessels, particularly when contrast agent is not used. We, therefore, implemented and tested an ultra-short echo time sequence with black-blood preparation.

Diagnosis and Management of Asthma - The Swiss Guidelines.

The Global Initiative for Asthma (GINA) is a network of individuals, organizations, and public health officials that was established to disseminate information about the care of patients with asthma and to improve asthma care. The GINA ("Global Strategy for Asthma Management and Prevention") report has been updated annually since 2002. Due to new knowledge and therapeutic development in the field, the Swiss Respiratory Society felt the need to provide a new document that is based on both the available literature and the recommendations of the 2016 GINA report.

A double echo ultra short echo time (UTE) acquisition for respiratory motion-suppressed high resolution imaging of the lung.

Purpose: Magnetic resonance imaging is a promising alternative to computed tomography for lung imaging. However, organ motion and poor signal-to-noise ratio, arising from short T2*, impair image quality. To alleviate these issues, a new retrospective gating method was implemented and tested with an ultra-short echo time sequence.

Safety of Drugs during Pregnancy and Breastfeeding in Cystic Fibrosis Patients.

Health management of cystic fibrosis (CF) patients should be maximized during pregnancy and breastfeeding because of its significant impact on the maternal and newborn outcomes. Thus, numerous drugs will have to be continued during pregnancy and lactation. Most of the drugs representing CF treatment lines cross the placenta or are excreted into human milk.

Uveitis with occult choroiditis due to Mycobacterium kansasii: limitations of interferon-gamma release assay (IGRA) tests (case report and mini-review on ocular non-tuberculous mycobacteria and IGRA cross-reactivity).

Ocular tuberculosis is difficult to diagnose but should be suspected when uveitis fails to respond to inflammation suppressive therapy. Interferon-gamma release assays (IGRAs) represent a substantial help to diagnose suspected ocular tuberculosis especially in non-endemic areas. Indocyanine green angiography (ICGA) is able to detect clinically silent choroiditis that, when associated with a positive IGRA test, should lead the clinician to suspect ocular tuberculosis, warranting specific therapy.

CD4+CD25-mTGFbeta+ T cells induced by nasal application of ovalbumin transfer tolerance in a therapeutic model of asthma.

Background: Intranasal administration of high amount of allergen was shown to induce tolerance and to reverse the allergic phenotype. However, mechanisms of tolerance induction via the mucosal route are still unclear.

Objectives: To characterize the therapeutic effects of intranasal application of ovalbumin (OVA) in a mouse model of bronchial inflammation as well as the cellular and molecular mechanisms leading to protection upon re-exposure to allergen.

[The hyperventilation syndrome].

The hyperventilation syndrome is a disease affecting children as well as adults. It predominates in female and may be debilitating. It is frequently associated with anxiety.

[Pneumology. Anti-IgE antibodies in the treatment of asthma].

Omalizumab is a humanized monoclonal antibody that is directed against IgE. It has been shown to improve the control of severe allergic asthma in adults and adolescents. Candidates to the treatment are asthmatic patients with positive prick tests and/or in vitro markers of allergy, altered pulmonary function tests, and persistent daytime or nocturnal symptoms despite appropriate treatment with inhaled corticosteroids and long-acting beta-2-agonists.

[Lake Geneva Region guidelines on management of adult asthma].

Asthma is a major cause of chronic morbidity throughout the world. In Switzerland, 6.9% of the adult population is suffering from asthma.

[Hemoptysis: methods of localization].

Depending on the amount of bleeding, chest radiograph localises the origin of an hemoptysis in 20 to 50% of cases. Computed tomography (CT) scan of the chest is the most accurate method used to localise and identify the source of bleeding. In case of normal imaging, bronchoscopy localises the bleeding source in 40% of cases.

Biological effects of a dietary omega-3 polyunsaturated fatty acids supplementation in cystic fibrosis patients: a randomized, crossover placebo-controlled trial.

Background And Aims: Various anti-inflammatory therapies, including dietary omega-3 polyunsaturated fatty acids (PUFA) supplementation, have been investigated in cystic fibrosis (CF) patients. To further explore this nutritional approach, biological effects of an omega-3 PUFA oral liquid supplementation were measured in 17 CF patients in a double-blind, randomized, crossover without a washout period and placebo-controlled study.

Methods: CF patients (age: 18+/-9 year; weight: 43+/-13 kg) received a liquid dietary supplementation either enriched or not in omega-3 PUFA (390-1170 mg/day according to patient weight) during two 6-month periods.

[Detection and management of early Pseudomonas aeruginosa infection in patients with cystic fibrosis].

Initial Pseudomonas aeruginosa infection in patients with cystic fibrosis is a key step in pulmonary evolution of the disease. This first infection is most of the time early in life and gives some practical problems to the clinicians. It is important to look for colonisation with Pseudomonas aeruginosa as often as possible, at least every 3 month, by sputum culture when the child is able to or with induced sputum by hypertonic saline nebulisation.

Eotaxin-1 (CCL11) up-regulation in tears during seasonal allergic conjunctivitis.

Purpose: To compare in-season eotaxin-1 levels in tears of patients suffering from seasonal allergic conjunctivitis (SAC) with (1) tears of normal subjects and (2) tears of SAC patients out of season.

Methods: Tears of 11 SAC patients and six control volunteers were collected during the pollen season. Tears of five SAC patients showing a strong sensitivity to grass pollen (skin-prick tests and specific serum IgE) were collected both in season and out of season.