Background: Cystic fibrosis (CF) is a life-threatening disease that requires extensive knowledge for effective management. This study aimed to assess the knowledge levels of parents of children diagnosed with CF through newborn screening (NBS), evaluate their experiences during the diagnostic process, and determine the impact of education on their CF knowledge. Methods: This quasi-experimental study involved 47 parents of children aged 0-30 months diagnosed with CF through NBS at four CF centers in Istanbul, Turkey. Parents completed a questionnaire assessing their CF knowledge before and after receiving face-to-face education, informational brochures, and an online webinar. The questionnaire covered general CF features, lung health, sexual function and infertility, and gastrointestinal issues. Results: The study revealed significant deficiencies in parental knowledge about CF and the NBS process. Only 25.5% of parents were informed about NBS prenatally, and 51.1% received information about CF when NBS results were positive. After educational intervention, correct response rates significantly increased for general characteristics (p=0.003), sexual health (p<0.001), lung health (p=0.007), and overall knowledge (p<0.001). Parents of children older than 12 months showed more pronounced improvement in knowledge across various sections compared to parents of younger children. Conclusion: The study highlights the need for a more robust educational framework to equip parents with comprehensive knowledge about CF. Improved communication strategies about NBS processes and repeated educational interventions are necessary to address knowledge gaps and enhance the quality of life for CF patients and their families.

Sweat testing remains a fundamental diagnostic tool for cystic fibrosis (CF), with the classic sweat chloride test (SCT) established as the gold standard since 1959. Despite its wide use, SCT presents challenges including limited accessibility in low- and middle-income countries, difficulties in obtaining adequate sweat samples, especially from infants, and ambiguous borderline results that require further functional or genetic analysis. Newer diagnostic methods, such as nasal potential difference (NPD) and intestinal current measurement (ICM), provide sensitive and specific assessments of CFTR function, but are technically complex and require specialized expertise, restricting their use in resource-limited settings. The beta-adrenergic sweat test (BAST) emerges as a promising, less invasive alternative, directly measuring CFTR-mediated sweat production using evaporimetry or sweat bubble imaging techniques. BAST shows advantages including ease of use, rapid results, and the ability to distinguish between CF, CFTR-related disorders, heterozygotes, and unaffected individuals. Furthermore, recent advances in wearable sensor technologies and microneedle patches indicate future potential for continuous, real-time, and noninvasive sweat monitoring, which could revolutionize CF diagnostics and patient management. This review summarizes the strengths and limitations of current and emerging sweat test modalities, highlighting BAST and wearable sensors as impactful tools for improving CF diagnosis and monitoring, especially in settings with limited resources.

Objective: Otitis media and conductive hearing loss are common in patients with primary ciliary dyskinesia (PCD). We aimed to assess the pulmonary, ear-nose-throat, and otologic features of individuals with PCD and their effect on quality of life (QOL). Methods: Demographic data, spirometry values, a health-related quality of life questionnaire for PCD patients (QOL-PCD), physical examination data of sinonasal and otologic systems, the sinonasal outcome test-22, and audiologic tests were recorded in this prospective, and cross-sectional study. The pure tone audiometry, distortion product otoacoustic emission (DPOAE), tympanogram, and the Turkish matrix test (TUR-matrix) evaluating speech understanding in noise were performed. Results: Fifty-six patients with PCD were included in the study. The scores of the social, upper, and lower respiratory domains of the QOL-PCD were significantly lower in adults than in children and adolescents (p-value <0.001, 0.02, and 0.01, respectively).The hearing and the TUR-matrix were pathologic in 26 (46.4%) and 36 (64.3%) cases, respectively. Patients with pathological hearing had significantly worse results in regards to the FEV 1 z-score (-1.7 vs. -0.8, p=0.01), the TUR-matrix test (20 vs 16 cases, p=0.001), the DPOAE (25 vs 11 cases, p<0.001), and the tympanogram (26 vs 12 cases, p<0.001) than patients with normal hearing. Conclusion: Sinopulmonary involvement and hearing manifestations are very common in patients with PCD, and speech understanding in noise is often impaired. These manifestations impact QOL in various areas.

Background: Primary ciliary dyskinesia (PCD) is associated with ventilation defects and heterogeneous impairment of pulmonary function. Spirometry may underestimate PCD severity and complexity. This study aimed to evaluate spirometry, lung clearance index (LCI), and impulse oscillometry (IOS) in children with PCD and healthy controls, and compare them in terms of early detection of lung disease. Methods: In this cross-sectional, prospective study, participants included children aged 6-18 years with PCD and healthy age-matched controls. Lung function tests using LCI, IOS, and spirometry were conducted on the same day for all participants. Results: Thirty-two children with PCD (median age 13.19 years) and 44 age-matched healthy controls (median age 12.32 years) were studied. PCD was associated with lower FEV1, FVC, FEV1/FVC, R5, R10, R15, R20, X5, Fres, and LCI 2.5% mean values (p<0.05). Abnormal LCI 2.5% was found in 46.5% of patients with predicted FEV1 > 80%. Significant inverse correlations were observed between LCI 2.5%, FEV1, FVC, and Fres in PCD patients (p<0.001, r:-0.635; p=0.002, r:-0.517; p=0.006, r:-0.479; respectively. Conclusion: This is the first study to compare LCI, IOS, and spirometry in children with PCD. The study has shown that there are significant differences in spirometry, LCI, and IOS values between children with PCD and healthy controls. LCI can detect airway anomalies earlier than spirometry in PCD patients. IOS and LCI are valuable respiratory function tests that can be used in PCD follow-up.

Background: Previously, Cystic Fibrosis (CF) patients faced a limited life expectancy, but significant medical advances now highlight the need for successful transition programs from pediatric to adult care. Methods: The aim of this project was to implement the CF R.I.S.E. program, a structured transition program, in a CF center with limited resources at Marmara University. The program was adapted and translated into Turkish with the permission of the Cystic Fibrosis Foundation. A multidisciplinary team collaborated in the translation and adaptation process and educational materials were developed for patients and families. Results: Successful implementation of the CF RISE program was achieved within six months. A pilot study with randomly selected patients revealed positive feedback indicating the effectiveness and understandability of the program. The program facilitated strong collaboration between pediatric pulmonologists, CF nurses, dietitians and patient representatives. However, challenges were encountered due to the lack of a designated social worker, which affected patients’ access to expert guidance on social security and disability rights. Conclusions: The CF S.O.B.E. program was successfully adapted and implemented at the Marmara University CF Center in Turkey. The program is expected to have a positive impact on patients’ knowledge and self-care skills over a period of 1.5 years. It is aimed to make the program a routine practice in the center and to expand the collaboration with adult clinics. Further studies are needed to assess its long-term impact and applicability in different health settings. The ultimate goal is to disseminate the program’s resources and promote structured transition practices nationwide.