Exploring genetic complexity: Pseudo hypoparathyroidism mimicking cystic fibrosis

Gene Reports, Journal Year: 2025, Volume and Issue: unknown, P. 102266 - 102266

Published: May 1, 2025

Language: Английский

---

Population Pharmacokinetics of Elexacaftor, Tezacaftor and Ivacaftor in a Real-World Cohort of Adults with Cystic Fibrosis

Clinical Pharmacokinetics, Journal Year: 2025, Volume and Issue: unknown

Published: May 22, 2025

Language: Английский

---

Same‐Day Repeatability and 28‐Day Reproducibility of Xenon MRI Ventilation in Children With Cystic Fibrosis in a Multi‐Site Trial

Journal of Magnetic Resonance Imaging, Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 11, 2024

Background MRI with xenon‐129 gas (Xe MRI) can assess airflow obstruction and heterogeneity in lung diseases. Specifically, Xe may represent a sensitive modality for future therapeutic trials of cystic fibrosis (CF) therapies. The reproducibility has not yet been assessed the context multi‐site study. Purpose To determine same‐day repeatability 28‐day children CF. Study Type Four‐center prospective, longitudinal. Population Thirty‐eight (18 females, 47%), median interquartile range (IQR) age 12 (9–14) years old, mild CF (forced expiratory volume 1 second (FEV ) ≥85% predicted). Field Strength/Sequence 3‐T, two‐dimensional (2D) gradient‐echo (GRE) sequence. Assessment MRI, FEV , nitrogen multiple‐breath wash‐out lung‐clearance index (LCI 2.5 were performed. reproducibility, was performed twice within first visit, procedures repeated at 28 days. hypoventilation quantified using ventilation‐defect percentage (VDP) reader‐defect (RDV). For VDP, hypoventilated voxels from segmented images identified threshold <60% mean whole‐lung signal expressed as volume. RDV, by two trained readers percentage. Statistical Tests Inter‐site comparisons conducted Kruskal–Wallis nonparametric tests Dunn's multiple‐comparisons tests. Differences individuals Wilcoxon matched‐pairs Bland–Altman used to evaluate repeatability, inter‐reader agreement. A P ‐value ≤0.05 considered significant. Results Median %‐predicted 96.8% (86%–106%), LCI 6.6 (6.3–7.4). had high (mean VDP difference 0.12%, 95% limits agreement [−3.2, 3.4]; RDV 0.42% [−2.5, 3.3]). At days, 26/31 participants (84%) fell Data Conclusion offer excellent short‐term reproducibility. Evidence Level 2 Technical Efficacy Stage

Language: Английский

---

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

Frontiers in Genetics, Journal Year: 2024, Volume and Issue: 15

Published: Oct. 28, 2024

Cystic fibrosis (CF) is a genetically inherited disorder characterized by wide range of clinical manifestations and genetic variations. This study focuses on the molecular epidemiology CF in Russian population, utilizing data from national registry. The birth prevalence Russia has been analyzed over span years, revealing variations frequency. delves into landscape CFTR gene variants patients, showcasing diverse spectrum with predominance severe variants, some which are rare distinct global populations. A total 233 have documented, exhibiting frequencies ranging 0.01% to 51.5%, 47 these remaining uncharted within international databases. As 2021, modulator therapy introduced for patients under 19 heightening importance diagnosis. In 2023, more than 1,850 received therapy. Notably, impact complex alleles disease progression response targeted therapies gaining recognition. Comparisons European registries highlight distinctive features such as differences age distribution among patients. Additionally, emphasizes need ascertain significance pathogenicity newly identified along exploring their suitability therapies. integration insights management offers potential enhanced personalized therapeutic interventions. conclusion, this thorough analysis provides comprehensive understanding nuances population. By illuminating intricate relationship between manifestation, underscores essential role genetics shaping strategies improving patient outcomes. Further research ongoing exploration crucial optimizing care individuals era evolving options.

Language: Английский

---

Antibiotic treatment of bacterial lung infections in cystic fibrosis

European Journal of Pediatrics, Journal Year: 2024, Volume and Issue: 184(1)

Published: Dec. 14, 2024

Bacterial infections of the lower airways are main cause mortality and morbidity in cystic fibrosis. The most frequently isolated pathogens S. aureus P. aeruginosa; bacterial co-infections observed. aim this review is to provide, current context, indications regarding best antibiotic strategy adopt subjects affected by CF infected with common pathogens. We selected relevant publications (guidelines, systematic reviews clinical studies published so far on these topics) we analysed sampling methods used strategies adopted. Oropharyngeal considered less sensitive for pathogen detection than sputum. In non-expectorating people, induced sputum equivalent two-lobe bronchoalveolar lavage, which invasive. Antibiotic treatment against can consist eradication early stages infection, chronic suppressive therapy pulmonary exacerbations. This scheme valid aeruginosa but remains be demonstrated other For aureus, no evidence-based therapeutic how treat different infection have been established certainty. With regard classic (B. cepacia complex, A. xylosoxidans maltophilia), exist decision left clinician. recent introduction highly effective modulators CFTR protein, addition favourable effects described regulatory trials, has led a reduction isolations; real effect practice still assessed basis scientific data. reliability culture examination depends methods, expectorated continues method as it simple non-invasive. various appear established, efficacy underlined trials reviews. into practice, despite their widely efficacy, not yet suggestions changes isolated.

Language: Английский

---