Cystic Fibrosis - Springer Nature

An Update on CFTR Modulators as New Therapies for Cystic Fibrosis

Following treatment in cystic fibrosis patients with common gating mutations using the potentiator drug ivacaftor, successive invention of adapter drugs in combination has resulted in highly effective modulator therapy for over 85% of the cystic fibrosis population over 12 years of age in the form of elexacaftor/ivacaftor. We discuss the challenges of establishing drug safety in early life in an ever-shrinking modulator-nau00efve population as clinical trials progress to younger patient groups. Drug interactions in people with cystic fibrosis, where polypharmacy is commonplace, are a factor, but we also find studies that aim to treat treatment risk in people with cystic fibrosis, where polypharmacy is common, but also as the modulated population is expected to stay healthier for longer.

Source link: https://doi.org/10.1007/s40272-022-00509-y

Strain-specific predation of Bdellovibrio bacteriovorus on Pseudomonas aeruginosa with a higher range for cystic fibrosis than for bacteremia isolates

Bdellovibrio bacteriovorus 109J's empirical research focused on clinical isolates of Pseudomonas aeruginosa from well-characterized collections of cystic fibrosis lung colonization and bloodstream infections, including strains identified by genetic lineage determination, antibiotic resistance phenotype, and colony phenotype. In comparison to the initial inoculum, the predation's success is the ratio of viable prey cells emerging after predation. CF was significantly higher for CF than for BSI P. aeruginosa isolates, presumably due to an environmental source of CF strains, whereas invasive strains are more adapted to humans. A polyhydroxylkanoate depolymerase deficient B. bacteriovorus bd2637 mutant was used to determine the likelihood of raising I-PR of BSI isolates.

Source link: https://doi.org/10.1038/s41598-022-14378-5

Beneficial short-term effect of autogenic drainage on peripheral resistance in childhood cystic fibrosis disease

Methods Thirty children with CF in a stable state underwent IOS testing at baseline and after AD. The Wilcoxon test was done as a comparative study of AD's effects on airway resistance measurements. R5u201320 Hz drastically decreased after AD, which was related to a decrease in the children with congestion, but it was not significantly improved in the children without congestion. The eRIC method enabled the estimation of the respiratory system's peripheral resistance, which also decreased in the children with congestion, but not improved in the children without congestion. Conclusion One session of autogenic drainage may be able to reduce peripheral resistance obtained from IOS measurements, especially in children with moderate to severe bronchial congestion.

Source link: https://doi.org/10.1186/s12890-022-02039-2

CF-Seq, an accessible web application for rapid re-analysis of cystic fibrosis pathogen RNA sequencing studies

Several RNA-seq datasets that are included in the gene expression omnibus have been published by researchers researching cystic fibrosis pathogens. We have developed CF-Seq, a R Shiny program that works with a collection of 128 studies and 1,322 individual samples from 13 clinically relevant CF pathogens, in order to reduce these barriers to data re-analysis. Here we present a series of use cases showing that the application is a versatile and cost-effective instrument for new hypothesis generation.

Source link: https://doi.org/10.1038/s41597-022-01431-1

Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry

Cystic fibrosis has a widespread and heterogeneous mutational spectrum in Europe. Methods A cross-sectional research was conducted in people with a confirmed diagnosis of CF and registered in the Region of Murcia's Rare Diseases Information System. As of 31 December 2018, there were 192 people with CF reported in the Region of Murcia. Conclusions This is the first analysis in Spain that discusses the genetic variation and its relationship with clinical manifestations in patients with CF using data from a rare disease registry. The findings show that planning for the health care of CF patients is now possible, contributing to the development of personalized medicine that helps to optimize health care in CF patients.

Source link: https://doi.org/10.1186/s13023-022-02373-y

Depression and anxiety prevalence in people with cystic fibrosis and their caregivers: a systematic review and meta-analysis

Background: Prevalence of depression and anxiety in people with cystic fibrosis and their caregivers is high, but the findings have been inconsistent. This systematic review and meta-analysis was designed to determine the prevalence of depression and anxiety among PwCF and their caregivers, as well as the causes of heterogeneity. Compared to depression prevalence in adolescents aged 12-18 years, adults, and caregivers, the figures were 18. 7%, 27. 2%, and 32. 8%, respectively. Anxiety prevalence among adolescents aged 12-18 years in adolescents was 26%, 28. 4% for adults and 38. 4% for caregivers. Discussion This comprehensive report found the prevalence of depression and anxiety in PwCF and their caregivers to be high, backed by recommendations for routine screening. The choice of PT was largely responsible for the increase in prevalence, but future studies needed to establish the most suitable PT for each CF group to identify those most vulnerable.

Source link: https://doi.org/10.1007/s00127-022-02307-w

Clinical course and risk factors for severe COVID-19 among Italian patients with cystic fibrosis: a study within the Italian Cystic Fibrosis Society

Purpose: To describe the clinical course of COVID-19 in patients with cystic fibrosis and other risk factors for severe COVID-19. Between March 2020 and June 2021, CF centers obtained baseline and follow-up data of patients with virologically confirmed SARS-CoV-2 disease. The logistic regression models estimated Odds ratios for severe SARS-CoV-2. Results SARS-CoV-2 was a positive molecular test performed by 236 patients. Conclusion: Clinical features of a severe form of CF are correlated with an elevated risk of COVID-19 hospitalization in hospitals. Patients in SARS-CoV-2-infected patients do not experience a decrease in respiratory function.

Source link: https://doi.org/10.1007/s15010-021-01737-z

Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma

Whether cystic fibrosis transmembrane conductance regulator gene mutations can contribute to the high incidence of allergic bronchopulmonary aspergillosis in India is unknown. We wanted to investigate the presence of CFTR mutations in children with asthmatic symptoms caused by ABPA. Methods On the Illumina NextSeq500 platform, we sequenced the CFTR gene using genomic DNA from blood. The identified or new single nucleotide polymorphisms and indels were identified before beginning zygosity analysis by genome analysis software kit. SNPs were more prevalent in asthmatic patients than in ABPA or healthy controls, although not statistically significant. In four studies without a corresponding reference SNP, we found two novel SNPs. SNP rates in ABPA subjects with high-attenuation mucus and bronchiectasis was higher than serological ABPA in comparison to serological ABPA. Conclusions Our study shows that CFTR mutations may have influenced the pathogenesis of ABPA. SNPs in the CFTR gene may influence disease risk in ABPA.

Source link: https://doi.org/10.1007/s11046-022-00631-y

Cystic Fibrosis and Sleep Circadian Rhythms

The cause of a mutation in the cystic fibrosis transmembrane conductance regulator gene, which leads to unusual water and chloride secretion across epithelial surfaces, contributes to Cystic fibrosis. Sleep anomalies have long been present in CF. However, there is evidence that CFTR gene dysregulation can influence circadian rhythms in CF. CF Early detection and management of circadian rhythms could improve CF's outcomes.

Source link: https://doi.org/10.1007/s41030-022-00184-x

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