Cystic Fibrosis Pubmed Results

CONCLUSION: With much of the transition literature reflecting health systems in high-income countries (HIC), this integrated socio-ecological and socio-cultural overview underscores the urgent need for context-specific, culturally sensitive transition frameworks focused on reproductive and mental health, the integration of adolescent-responsive, family-inclusive, and even faith-informed care models in LMICs. Our review and observations informed the author's recommendations.

Within-individual variability of health indicators measured over time is becoming commonly used to inform about disease progression. Simple summary statistics (e.g., the standard deviation for each individual) are often used but they are not suited to account for time changes. In addition, when these summary statistics are used as covariates in a regression model for time-to-event outcomes, the estimates of the hazard ratios are subject to regression dilution. To overcome these issues, a joint...

CONCLUSIONS: Despite higher treatment complexity, people with CFRD had similar adherence and higher self-efficacy than those without CFRD, suggesting that, in our sample, managing CFRD may uniquely impact self-efficacy, supporting adherence by way of adaptive coping. No differences were seen in mental health or executive function variables. Future research is needed to further explore relationships between executive function, glycemic outcomes, and diabetes management in samples representative...

CONCLUSIONS: Measures developed to assess patient‑reported outcomes in NCFBE may be extended to CFBE, pending cognitive and psychometric validation.

CONCLUSION: Patient-derived differentiated HNEC cultures serve as a robust predictive tool for CFTR modulator response in paediatric CF patients. Their integration into clinical practice can enhance personalised treatment strategies, minimising ineffective therapy use and improving CF patient outcomes with precision medicine.

CONCLUSIONS: Routine screening for eating disorders is important in the care of CF patients to help prolong survival and quality of life in this patient population.

CONCLUSIONS: This study demonstrated that mtAZM did not affect the Ke or other PK parameters of IV TOB. Despite previous reports of interactions between the two medications, our study suggests that similar TOB dosing and monitoring strategies can be used in those PwCF regardless of mtAZM use.

In this issue of Cell Host & Microbe, Steinberg et al.¹ present a microbial gene atlas of nasopharyngeal swabs in infants with cystic fibrosis and healthy controls using shotgun metagenomic sequencing. The impacts of clinical interventions on respiratory microbial function can be identified and experimentally validated using the atlas.

CONCLUSION: This is the first systematic review of body image in CF since new drug regimens emerged. Emerging body image disturbance patterns highlight the need for clinical strategies to screen for and address body image issues in CF care.

Chronic infection with Pseudomonas aeruginosa is a major driver of airway inflammation, which plays a central role in the progression of cystic fibrosis (CF) lung disease. During long-term colonization, P. aeruginosa adapts to the CF lung by downregulating virulence factors and adopting a biofilm-associated, mucoid lifestyle. Despite the expected reduction in immune activation due to these adaptations, excessive inflammation persists, a paradox that remains poorly understood. Our objective was...

Cystic fibrosis (CF) is a life-limiting genetic disorder caused by deleterious variants in the CFTR gene that results in altered mucus impairing the airway epithelia. Durable correction of these variants in airway cells remains a therapeutic challenge for about 10% of individuals unresponsive to CFTR modulators. A common disease-causing CFTR splice site variant, 3120+1G>A, was corrected in primary CF airway cells using base editor RNAs. Single-cell RNA sequencing revealed a remarkable increase...

CONCLUSION: This study emphasizes the differences of functional and structural aspects in both diseases. Markers that predict long-term outcome in PCD and in CF were identified. The most striking and unanticipated finding was that sputum IL-6 correlated with better CT scores and lung function in CF. This paradox merits further research but challenges whether sputum IL-6 in CF is always a bad prognostic indicator.

RATIONALE: Cystic fibrosis (CF) is a common, life-shortening genetic condition caused by a variant in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. A class II CFTR gene variant, F508del, is the commonest CF-causing variant (found in up to 90% of people with CF (pwCF) in some populations). The F508del variant lacks meaningful CFTR function: the faulty protein is degraded before reaching the cell membrane, where it would normally transport salt across the epithelial...

CONCLUSION: PwCF accessed acute care resources less but females experienced a greater drop in ED visits despite similar hospitalization rates as males, raising the possibility that females with CF experienced a disproportionate barrier to accessing acute care.

CONCLUSIONS: Structural, diagnostic, and genetic factors hinder accurate CF prevalence estimates in the Caribbean, highlighting the need for region-specific research, improved screening, and expanded access to therapies.

CONCLUSIONS: Both groups supported early and ongoing reproductive health-related SDM. Further research should evaluate CF-specific reproductive health SDM interventions that build confidence, skills, and foster a health-service culture supportive of SDM.

CONCLUSION: All pwCF should have EPI evaluated at diagnosis. Among various tests, FE-1 is the most commonly utilized test for screening EPI. A value of < 200 μg/g of stool is consistent with EPI and is highly sensitive for EPI diagnosis. A value of < 100 μg/g is highly specific for severe EPI. Repeating FE-1 should be considered in the current era of modulators, especially with a change in clinical status.

Chronic obstructive and inflammatory lung diseases share overlapping clinical manifestations and spirometric features, complicating differential diagnosis and monitoring. In this study, we performed an integrative real-time proton-transfer-reaction time-of-flight mass spectrometry (PTR-TOF-MS) breathomics analysis to assess whether exhaled volatile organic compound (VOC) profiles enable multiclass discrimination among bronchial asthma (BA), chronic obstructive pulmonary disease (COPD), cystic...

Classical statistical analysis is a frequently employed methodology in numerous domains of genetic research. In recent times, however, there has been a notable increase in the interest accorded to the deployment of Bayesian statistics in the field of genetics, as it incorporates a priori hypotheses about genetic knowledge into the problem. The potential risk of developing a genetic disease is influenced by the patient's genetics, ethnicity, gender, age, and family history. The objective of this...

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF), an autosomal recessive multiorgan disorder. In addition to respiratory, digestive, and reproductive pathologies, patients with CF also exhibit higher rates of enamel defects. CFTR is an anion channel expressed in maturation-stage ameloblasts and is known for its role in chloride and bicarbonate conductance, a function thought to promote enamel mineralization through the neutralization of...

The relationship between CFTR mutational status and cellular energy metabolism remains unresolved. Using continuous long-term respirometry via the Resipher platform, we demonstrate that the Class II CFTR misfolding mutations ΔF508, G85E, and P67L all significantly increase cellular respiration in isogenic Fisher rat thyroid (FRT) and human bronchial epithelial (HBE) cells, consistent with the constitutive energy demands of misfolded-protein quality control. In contrast, Class I truncating...

CONCLUSION: Children and adolescents with CF carrying two ETI-responsive variants exhibit a superior biochemical response to ETI. The absence of differences in clinical outcomes likely reflects preserved baseline status, reinforcing SCC as a sensitive biomarker of CFTR modulation in pediatric subjects. These findings support the use of SCC as a sensitive early biomarker of CFTR correction, particularly in pediatric patients with preserved clinical status.

Cystic fibrosis (CF) is a genetic disease that causes lung inflammation. Although new treatments have improved the quality of life of people with CF, inflammation remains a problem. Alveolar macrophages have been shown to be important mediators of CF lung inflammation although the interactions between macrophages and other immune cells in CF are poorly understood. To identify and compare the cellular composition between CF and healthy airspace macrophages and monocytes, healthy control and CF...

Diabetes management in certain patient populations has unique challenges and goals. Among these populations are pregnant people, elderly people, and people with chronic kidney disease, cystic fibrosis, or liver dysfunction. In pregnancy, insulin resistance increases weekly during the second and third trimesters and rapidly decreases with delivery. Diabetes in elderly patients is complicated by polypharmacy, declining cognitive and functional status, and higher risk of morbidity and mortality...

Cystic fibrosis (CF) is a life-shortening inherited disorder caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane conductance Regulator (CFTR), a protein that controls the transport of chloride ions across cell membranes. Defects in CFTR cause thick mucus, leading to chronic infections and inflammation in multiple organs. Severe mutations, such as G542X, that completely abolish the function of CFTR present major therapeutic challenges. One potential approach is to stimulate...

CONCLUSIONS: While current evidence supports the feasibility of homebase microbiological sampling in paediatric CF care, important methodological considerations remain. Future perspective studies incorporating standardised protocols, documentation of antimicrobial exposure, and page same-day sampling designs are needed to more rigorously assess diagnostic equivalent and informed in integration into routine clinical practice.

Phage therapy is an exciting strategy against antimicrobial-resistant bacterial infections, but critical knowledge gaps regarding its clinical application persist. Here we present a case study of a 22-year-old male patient with cystic fibrosis, presenting with a recurrent, invasive and ultimately lethal Bordetella bronchialis infection, who failed compassionate-use phage therapy. Using longitudinal clinical samples, we found that our patient harbored pre-existing antibodies against active...

CONCLUSION: CGM use in CFRD improved QOL and glycaemic control without increases in hypoglycaemia.

The 1717-1G>A is a prevalent splicing mutation causing cystic fibrosis (CF) for which no pharmacological treatments have been approved. This mutation disrupts a canonical 3' AG splice acceptor site in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to severe RNA missplicing, which prevents the correct synthesis of the encoded protein. In this study, we developed an adenine base editing (ABE) strategy to efficiently correct the 1717-1G>A mutation. By using the ABE9...

CONCLUSION: Our real-world data involving a large cohort of PwCF demonstrate that HRQoL improvements are sustained across multiple domains regardless of lung function response. These findings underscore the importance of using a multimodal approach to evaluate the effectiveness of modulator therapy in people with CF.

RATIONALE: Cystic fibrosis (CF) is an inherited multi-organ disorder. People with CF (pwCF) experience recurrent and chronic lung infections and a progressive loss of lung function. PwCF with poor and rapidly declining lung function may be considered for lung transplantation (LTx), which may improve their quality of life and survival. Nontuberculous mycobacteria (NTM) can cause pulmonary disease in pwCF, and NTM infection is a poor prognostic factor in LTx. Guidelines recommend NTM infection...

Critical Gram-negative pathogens, like Pseudomonas, Stenotrophomonas, and Burkholderia, are now resistant to most antibiotics. Complex resistance profiles, together with synergistic interactions between these organisms, increase the likelihood of treatment failure in distinct infection settings, for example in the lungs of cystic fibrosis (CF) patients. Here, we discover that cell envelope protein homeostasis pathways underpin both antibiotic resistance and cross-protection in CF-associated...

Despite increasing clinical reports of its emergence and multidrug resistance, particularly in cystic fibrosis (CF) patients, comprehensive genomic insights and effective therapeutic strategies targeting P. sputorum remain scarce. This study aimed to elucidate the evolutionary relationships and genomic characteristics of P. sputorum and to identify potential therapeutic targets and repurposable drugs via integrated computational approaches. Phylogenetic relationships were reconstructed via 16S...

Functional studies of how early-life interventions shape the airway microbiome remain scarce. Here, we performed metagenomic sequencing of 704 longitudinal nasal swabs from infants with and without cystic fibrosis (CF) to construct and characterize a non-redundant gene atlas of the infant nasal microbiome. We aimed to determine how the nasal microbiome is perturbed by early therapies, as CF is commonly treated with inhaled hypertonic saline to improve mucociliary clearance. We found functional...

CONCLUSIONS: MBW, spirometry, and lung T1-MRI are all capable of detecting lung airway and perfusion changes in cwCF 6-11 years of age following the start of ETI therapy. MBW and spirometry assessments were able to detect a sustained improvement in pulmonary function testing regardless of baseline lung status, while lung T1-MRI was able to detect significant improvements in lung perfusion in patients with more advanced lung disease. These findings, in combination with our prior cross-sectional...

Diseases due to mutations in essential molecules can involve tissues functioning in very different environments, with some in mechanically active environments. Diseases arising from mutations in a single molecule, such as the CFTR in cystic fibrosis exhibit varied clinical phenotypes. The lung cells expressing mutations in CFTR are functioning in the mechanically active environment of the lung, but these mutations may also play an adverse role in the cardiovascular system. Similarly, Marfan...

CONCLUSIONS: In this exploratory study of young, modulator-naïve children with CF, ETI initiation was associated with changes in the lower airway microbiology composition assessed by IS. These findings highlight potential shifts in lower airway microbiology and the importance of age-appropriate lower airway sampling in future paediatric studies.

CONCLUSION: CFTR modulators have improved pulmonary function and anthropometric measures in PwCF. Based on these findings, CFTR modulators may also enhance exocrine pancreatic function in pediatric patients.

CONCLUSIONS: OGTT screening significantly improved following the implementation of behavior-based solutions. Our findings indicate that addressing key barriers at a service level using a multifaceted interventional approach can change end-user perspectives and behavior.

CONCLUSION: Overall, the study found that parents of children with rare diseases experience a suboptimal QoL score, with parents of children with DMD faced the greatest challenges, suggesting targeted interventions like enhanced newborn screening and utilizing genetic testing for expedited diagnosis may be beneficial. The study also found that frequent emergency department visits negatively impacted QoL, suggesting that enhancing healthcare access through medical education, and the integration...

CONCLUSION: This bibliometric analysis summarizes the evolution of global research on CF-associated pulmonary infections, highlighting sustained emphasis on chronic infection and antimicrobial resistance, and may help guide future research priorities.

The three components of the definition of CFTR-related disorders (CFTR-RD) recently proposed by European Cystic Fibrosis Society (ECFS) are the presence of specific clinical features, the exclusion of a diagnosis of cystic fibrosis (CF), and evidence of a partially functional CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, whose activity deficit does not reach the diagnostic thresholds for CF. Among the phenotypes suggestive of CFTR-RD, recurrent acute pancreatitis (RAP) is...

PURPOSE OF REVIEW: This review provides a summary of the evolving landscape of pediatric lung transplantation highlighting current trends, short and long-term outcomes, ongoing challenges in posttransplant survival, and unique considerations in pediatric populations.

CONCLUSION: Genetic eligibility for CFTRm is associated with meaningful differences in psychological well-being among children with CF, particularly in those with more advanced lung disease. These findings suggest that eligibility status itself may function as a psychosocial determinant and should be considered when delivering patient-centered care for children with CF and their families.

The neutrophilic response to chronic Pseudomonas aeruginosa lung infection is strongly associated with collateral tissue damage impairing lung function in people with cystic fibrosis (pwCF). We recently demonstrated the concurrent presence of both biofilm bacteria and planktonic bacteria in chronically infected lungs in pwCF. However, the neutrophilic response to these distinct bacterial forms remains insufficiently characterized. To investigate this, we fractionated P. aeruginosa batch-cultures...

CONCLUSIONS: A tailored multidisciplinary QI protocol significantly improved lung function and nutrition in PwCF in a resource-limited setting, with CFTR modulators providing additional clinically meaningful benefits.

Cystic fibrosis (CF) is characterized by chronic airway inflammation, yet clinical observations have revealed more favorable COVID-19 outcomes than originally predicted. Several studies demonstrated a significant decrease of SARS-CoV-2 replication in CF-mutated bronchial cells suggesting that CFTR dysfunction may interfere with viral replication, though the underlying mechanisms remain unclear. To elucidate these mechanisms we performed transcriptomic profiling of SARS-CoV-2-infected bronchial...

CONCLUSIONS: Most CF clinicians believe that cost and financial discussions are important and reported engaging in these conversations with patients at least annually. Differences in comfort level and discussion practices were observed between social workers and licensed prescribers. Results demonstrate the opportunity for educational interventions to address clinician knowledge and improve comfort level with discussions.

CONCLUSION: While exploring the impacts of ETI therapy on pancreatic function, this study revealed a potential reversal of pancreatic insufficiency. The results suggest the importance of early initiation of therapy and standardized protocols to monitor FE-1 values over time.

Background. Early identification of pulmonary exacerbations is vital for the management of cystic fibrosis (CF). Non-invasive airway sampling in preschool children can be inaccurate. Face mask sampling (FMS) is a novel non-invasive approach that can be used to assess microbial airway pathogens in patients with CF.Methods. Prospective cross-sectional study in children with CF. Children wore a suitably sized face mask fitted with two strips of a polyvinyl alcohol sampling matrix for a period of 15...