Cystic Fibrosis Pubmed Results

CONCLUSION: This was the first use of the modified CLCF-SF in a population setting. High response rates indicate ease of completion. This study provides an assessment of internal consistency, usability, and performance of the modified version of the new tool; the need for age-adequate financial and psychological support is highlighted.

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) dysfunction is increasingly recognized as a key contributor to a broad spectrum of human diseases beyond classical cystic fibrosis (CF). CFTR is a cAMP-regulated chloride and bicarbonate ion channel expressed in both epithelial and non-epithelial tissues, where it regulates ion homeostasis, mucosal hydration, and cellular signaling. Both inherited CFTR mutations and acquired dysfunction resulting from environmental or inflammatory...

CONCLUSION: In patients and families motivated to use HSPIR, its use avoided the need to return to the clinic for follow-up spirometry and influenced clinical decision making, suggesting that HSPIR can be a useful clinical tool. The overall low uptake of HSPIR highlights the need for further research to address patient and clinician barriers to its use. The impact of HSPIR on long-term CF outcomes also requires further study.

CONCLUSION: Melatonin can be used to perform MBW during sleep in infants and toddlers with CF. Inducing natural sleep makes melatonin a safe, feasible, and less time-consuming alternative compared to sedatives. Future MBW investigations using melatonin are warranted to confirm these findings.

CONCLUSION: These findings highlight the differential digestibility and microbiota modulation of nuts and seeds under CF-specific conditions, with sunflower seeds emerging as a promising dietary component for children with CF.

CONCLUSION: These findings suggest a possible association between CFTR modulator use and lower anxiety and depression scores in both patients and parents, though causal conclusions cannot be drawn from this observational study.

Gastrointestinal symptoms are common in CF, present in at least 65%, and possibly as high as 98% of people with CF (PwCF) and up to 20% reporting these symptoms to be moderate to severe. Chronic GI symptoms including flatulence, bloating, nausea, fullness and abdominal distension experienced by PwCF are likely more complex than a single structural etiology, and may be attributable to or amplified by a complex interaction of biopsychosocial factors. Here we explore the "toxic tetrad" of known...

Chronic infections such as those in cystic fibrosis (CF) are sustained by small, highly tolerant Pseudomonas aeruginosa aggregates that persist despite immune and therapeutic pressures. Unlike classical biofilms, these aggregates represent a distinct pathogenic unit - microscale, spatially organized communities that maintain structural integrity and physiological homeostasis under host-induced stress. However, the mechanisms that enable aggregates to remain intact under these conditions, and...

Cystic fibrosis (CF) is one of the most common life-shortening hereditary disorders, caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This defect causes multi-system disease, but primarily it affects the lungs and pancreas. Over 2000 CFTR gene variants have been identified; these can result in variable CFTR protein function and, consequently, a diverse clinical phenotype. CF is not only diagnosed in children but also in adults and is present in...

Pseudomonas aeruginosa is a leading cause of nosocomial infections, particularly in individuals with a compromised immune system. Due to its strong adaptive ability, P. aeruginosa tends to develop antibiotic resistance and establish chronic infection, making its eradication through traditional antibiotics challenging. Thus, the development of novel therapeutic targets and corresponding inhibitors is urgently required. We conducted bioinformatics analyses of gene-chip datasets (GSE10362,...

CONCLUSIONS: CFTRm - particularly ELX/TEZ/IVA - demonstrated substantial clinical benefits across age groups. The treatment effect varied over time in the majority of patients. Different CFTRm's impact on respiratory function, nutritional status, and well-being underscores the importance of personalized approaches in CF care.

Cystic fibrosis (CF) is a genetic disorder marked by impaired chloride transport, with elevated sweat chloride concentration serving as the primary diagnostic biomarker. Here, we report a 3D-printed chloride-selective ion-selective electrode (3Dp-Cl^(-)-ISE) for sweat chloride analysis relevant to CF screening. This work introduces a solvent-free, 3D-printed solid-contact chloride ISE that integrates a photocurable non-polyvinyl chloride selective membrane with a carbon-cloth transducer. The...

CONCLUSIONS: While PWCF were bothered less by symptoms now compared to before starting ETI, some symptoms still caused a high degree of bother, particularly among 'older' adults with CF. Findings underscore the need for ongoing strategies to monitor and manage non-respiratory symptoms.

Cystic fibrosis (CF) lung disease is characterized by chronic infection and progressive airway damage, driven by interactions between epithelial dysfunction, immune dysregulation, and microbial adaptation. Defective cystic fibrosis transmembrane conductance regulator (CFTR) function disrupts airway hydration and mucociliary clearance, creating a microenvironment that facilitates infection, particularly with Pseudomonas aeruginosa (P. aeruginosa). Within this environment, P. aeruginosa undergoes...

Achromobacter spp. are opportunistic pathogens in people with cystic fibrosis (PwCF), yet the role of the upper airways in their persistence and adaptation remains poorly understood. We investigated whether the sinonasal compartment may act as reservoir and evolutionary niche for Achromobacter spp. during airway infection. Twenty-two isolates obtained from paired nasal lavage and sputum samples of seven PwCF were analysed by whole-genome sequencing. Within each PwCF, identical clone types were...

The prevalence of Mycobacterium abscessus (MABS) infections in people with cystic fibrosis (pwCF) is increasing. Macrophages are key phagocytic cells that recognize bacteria via cell surface receptors, engulf them into phagosomes, and then utilize diverse killing strategies. Here, we used human primary monocyte-derived macrophages (MDMs) from healthy controls (HCs) and pwCF to investigate how they processed and killed MABS. Expression of phagocytosis-related pattern recognition receptors (TLR2,...

Cystic fibrosis (CF)-associated lung infections caused by Pseudomonas aeruginosa (P. aeruginosa) and Staphylococcus aureus (S. aureus) remain difficult to treat due to multidrug resistance and the redox instability of the pulmonary environment, which can impair antibiotic efficacy. In this study, we investigated alvinellacin (ALV), a disulfide-stabilized β-hairpin antimicrobial peptide (AMP) derived from the deep-sea polychaete Alvinella pompejana (A. pompejana), as a potential therapeutic agent...

CONCLUSIONS: Home monitoring with automatically transmitted data to the hospital-based electronic health record and video consultations was feasible despite identified concerns regarding technical issues with home spirometry devices.

This manuscript covers guidance proposed by The European Cystic Fibrosis Society Clinical Trials Network (ECFS-CTN) for the use of chest computed tomography (CT) scans in special situations such as haemoptysis, aspergillus-related lung disease, non-tuberculous mycobacterial (NTM) infection and pneumothorax in people with CF. Guidance development followed a three-step process. The most important questions were first identified via anonymous online survey, then a comprehensive literature search...

Airway surface liquid (ASL) homeostasis is crucial for effective mucociliary clearance (MCC) and innate lung defense, both of which are severely compromised in cystic fibrosis (CF). Although CFTR modulators improved disease management, many patients remain ineligible due to mutations that cannot be targeted pharmacologically, highlighting the need for alternative therapeutic strategies. Among these, direct inhibition of the epithelial Na^(+) channel (ENaC) has emerged as a pharmacologically...

Ivacaftor is the only cystic fibrosis transmembrane conductance regulator modulator approved for infants ≥ 1 month. The elexacaftor/tezacaftor/ivacaftor combination, approved for children aged ≥ 2 years, has been shown to significantly slow CF progression. Expanding elexacaftor/tezacaftor/ivacaftor use to infants may offer additional therapeutic benefits. This study aims to predict elexacaftor/tezacaftor/ivacaftor pharmacokinetics in infants aged 1 month to < 2 years using physiologically based...

CONCLUSION: In our study, while a high level of biofilm production was observed among P. aeruginosa isolates from patients with CF, antibiotic resistance rates were found to be low. These results highlight the need for therapeutic strategies targeting biofilms to improve treatment outcomes in CF-related P. aeruginosa infections. Additionally, our data indicate that low ceftazidime resistance in this cohort supports the use of beta-lactam-based empirical strategies and carbapenem-sparing...

CONCLUSION: This study highlights the heterogeneity of pediatric NP in causes, presentation, and course. Patients with PCD often present bilaterally, while CF patients have the highest recurrence rate. In PCD, NP was the initial sign in over half of cases, suggesting isolated NP should prompt suspicion of PCD.

CONCLUSIONS: Key areas, such as justification for telehealth, target populations, and outcomes, are well documented, offering valuable insights into the rationale for and outcomes associated with telehealth. However, implementation processes remain underreported, partly due to the more recent adoption of frameworks like iCHECK and TIDiER. The clinical implications of the current evidence limit the implementation of telehealth in terms of the ability to assess feasibility and readiness for...

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.

PURPOSE OF REVIEW: Lung transplant remains the ultimate life-saving therapy for people with progressive end-stage lung disease. It is important to highlight the evolution of the field in the United States, as its development has had varying impacts on the different lung transplant candidate groups. This review seeks to synthesize current evidence on the evolution of transplantation across various patient groups, reflecting advances in medical therapies, the implementation of the new composite...

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...

PURPOSE: In 2013, the Cystic Fibrosis Foundation (CFF) published recommendations regarding study design considerations for the evaluation of porcine derived pancreatic exocrine replacement therapy (PERT) products in people with CF and exocrine pancreatic insufficiency (EPI). The purpose of this report is to provide an updated guidance with an emphasis on the design and conduct of non-inferiority (NI) trials of non-porcine derived PERT products.

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...

CONCLUSION: A hair analysis for CFTR modulators was developed and concluded fit-for-purpose, demonstrating that elexacaftor and tezacaftor can be reliably quantified in hair.

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...

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.

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: 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...

Dampening neutrophil-driven inflammation in the airways remains a challenge in treating cystic fibrosis (CF) lung disease. Myeloperoxidase (MPO) is a neutrophilic enzyme that produces reactive oxygen species and is highly concentrated in CF airways. Greater MPO concentrations have previously been correlated with increased mucus plugging in bronchiectasis, suggesting that MPO could impair mucociliary transport. As such, we evaluated the impact of MPO treatment on barrier integrity, mucin...

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.