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.

Primary ciliary dyskinesia is a rare genetic ciliopathy characterized by impaired clearance of the airway, leading to recurrent airway infections and various pulmonary conditions. The underlying cause of PCD is complex and involves diverse mechanisms. On one hand, advancements in genetic analysis techniques have significantly contributed to identifying the mutated genes associated with PCD, which in turn, can aid in understanding the variable clinical presentations of the disease. On the other hand, based on the mutated gene, disease manifestation may change and this makes it more challenging to establish a standardized diagnosis approach. Hence, it is important to approach it with a comprehensive perspective. In this study, 8 Turkish individuals with PCD were subjected to whole-exome sequencing (WES) analysis, as well as other diagnostic tests such as ciliary beat frequency measurement, immunofluorescence staining (IF), and confocal microscopy. The findings from this study not only contribute to the enlightenment of PCD aetiology but also emphasize the importance of a multidisciplinary approach when diagnosing and understanding this complex genetic disorder.

Solving the world’s health challenges requires multidisciplinary collaborations that bring together the talents, experiences, resources, and ideas from multiple sectors in low and middle-income countries (LMIC) and high -income countries (HIC). Cystic Fibrosis (CF) was thought to be a disease of Caucasian populations from European decent. However, it has been shown to affect people from all ethnic backgrounds. CF care varies significantly for people with CF (pw CF) from HIC with median survival approaching 50 years of age, to LMIC with pw CF dying in infancy or early childhood. To address the discrepancy in quality of care and outcomes, we report on a collaboration between our team at the University of Michigan cystic fibrosis center (UoM CFC), through support from the Middle East CF Association (MECFA) and the CF Foundation (CFF), and a CF center in Turkey (Marmara University CF Center, Istanbul) to address deficiencies and improve quality of care in that center. The collaboration has been successful in improving Ma CFC data and patient care. This partnership can be viewed as a model of collaboration to be duplicated in other Middle East Countries and LMIC to deliver optimal CF care.

Background: Chronic pulmonary infection is the leading cause of mortality and morbidity in patients with cystic fibrosis (CF). The most common pathogens isolated in CF are Staphylococcus aureus and Pseudomonas aeruginosa (P. aeruginosa). Chronic infection of P. aeruginosa and MRSA are associated with worse survival and antibiotic eradication treatment is recommended for both. This study evaluates the efficacy of intravenous (IV) vs. non-IV antibiotics in the eradication of P. aeruginosa and MRSA. Methods: This was a single-center retrospective study at a large CF center. All respiratory specimen cultures of 309 CF patients and eradication regimens between 2015-2019 were reviewed. The primary analysis was the comparison of the percentage of successful eradication after receiving IV and non-IV eradication regimens. Demographic and clinical risk factors for eradication failure were also analyzed. Results: 102 patients with P. aeruginosa isolations and 48 patients with MRSA were analyzed. At one year, 21.6% in P. aeruginosa group and 35.4% in MRSA group were successfully eradicated. There was not any statistically significant difference between IV vs. non-IV antibiotic regimens on eradication in either group. Additionally, none of the clinical risk factors was significantly associated with eradication failure in P. aeruginosa and MRSA groups. Conclusion: In the eradication of P. aeruginosa and MRSA, IV and non-IV treatment regimens did not show any superiority to one another. Non-parenteral eradication could be a better option in eradication considering the cost-effectiveness and the treatment burden of IV treatments due to hospitalization and the need for IV access.

Background: Depression and anxiety symptoms in patients with cystic fibrosis (CF) and their caregivers are 2-3 times higher than in the normal population. This study aims to evaluate the frequency and severity of depression and anxiety symptoms and to determine possible risk factors in CF patients and their mother and/or fathers at Marmara University CF center. Methods: The study included 132 CF patients who were followed up at our CF center. Patient Health Questionnaire (PHQ-9) and the Generalized Anxiety Disorder Questionnaire (GAD-7) were used to screen depression and anxiety. The questionnaires were completed by 50 CF patients (aged 12 - 17 years) and 132 parents of patients (aged 0-17 years). Results: While moderate to severe depression were seen in 25.5% of patients, 33.7% of mothers and 14.6% of fathers; moderate to severe anxiety were present in 17.6%, 21.8% and 8.5%, respectively. None of the demographic characteristics was identified as a predictor of depression or anxiety. GAD-7 scores have shown a higher incidence of anxiety in mothers of patients with chronic methicillin-resistant Staphylococcus Aureus (p = 0.034). Additionally, hospitalization in the last 12 months was statistically significantly higher in PHQ-9 scores of fathers (p = 0.043). Analysis of patients’ adherence to medical treatment and airway clearance showed higher depression and anxiety in mothers of the non-adherent group (p = 0.002). Conclusion: Depression and anxiety were common in CF patients and their parents. These results illustrate the importance of depression/anxiety screening and psychosocial support for the CF patient and their parents.

Introduction: Congenital lung malformations (CLM) are rare disorders and surgical intervention is the definitive treatment. Our aim is to evaluate the long term lung function of patients with CLM after surgery compared to healthy children. Methods: 16 children with CLM (M/F: 9/7) and 30 age-matched healthy controls (M/F: 13/17) were included in the study. Demographic data was recorded and both groups were compared by Spirometry and nitrogen based Lung Clearance Index (LCI). Results: Mean age of the patients was 12.0 ±5.4 years old. Mean Forced expiratory volume in 1 second (FEV1), Forced vital capacity (FVC), FEV1/FVC and Forced expiratory flow between 25% and 75% of force expiration (FEF25-75) %pred was, 86.68 ±16.65, 88.00 ±14.58, 97.44 ±9.89 and 79.00 ±26.41 respectively in patients group. Patients with CLM, had significantly lower values in FEV1, FVC, FEF25-75 values than healthy controls (p:0.002, p:0.007, p:0.045). While mean LCI2,5% value in patients’ group was 8.33 ±1.52, it was 7.28 ±0.80 in healthy controls (p:0.023). Strong inverse correlation between LCI and FEV1, FEV1/FVC was detected in patients’ group (p: 0.023 r: -0,581, p: 0.017 r: -0,606 respectively). Conclusion: Current study revieled that patients operated due to CLM have impairment in the pulmonary function compared to healthy children in long term follow-up and LCI may be more accurate detecting airway diseases earlier than spirometry.

Background Cystic fibrosis (CF) is a chronic disease causing recurrent respiratory tract infections. Viral respiratory tract infections are more severe in CF. The first case of COVID-19 was seen in Turkey on March 11, 2020 and nationwide school closure and lockdown were implemented. School closure and home confinement might have adverse effects on children’s physical and mental health. In this study, we aimed to compare the effect of COVID-19 pandemic on psychological reactions of CF patients and healthy controls. Methods This is a controlled cross-sectional study including 7-18 year-old children with CF. The survey included questions regarding family environment and peer relations, self care and psychological reactions to COVID-19 pandemic. The questionnaire was applied to children via telephone call under parental supervision. Results We evaluated 132 CF patients and 135 their healthy peers. Mean age was 11.5±2.9 years in CF group and 11.8±3.2 years in control group (p=0.98). There were 55 girls (41.7%) in CF group and 81 girls (60%) in control group (p=0.027). The socioeconomic status of families was similar. CF patients was feeling less anxious about the COVID-19 pandemic compared to controls (p=0.01). CF patients were found to be less anxious for family members having the risk of COVID-19, less upset for the school closure, less anxious about the COVID-19 pandemic (p<0.001, 0.02, 0.01 respectively). Conclusion CF patients seem to show more resilience in coping with the pandemic. Appropriate psychological support should be provided to them and resilience strategies in coping with the pandemic should be nurtured.