Background: Postural and aerobic exercises are essential in rehabilitation in cystic fibrosis (CF). The aim of this study is to examine the effect of telerehabilitation on the quality of life, depression, and anxiety levels of children with CF and their caregivers' mood and anxiety levels. Materials and Methods: Patients between the ages of 6-13 with CF were randomized into two groups. Study group received an exercise program three times a week via Zoom for 12 weeks. Cystic Fibrosis Revised Questionnaire (CFQ-R), Anxiety and Depression Scale in Children-Revised (RCADS) were applied to the patients and State-Trait Anxiety Scale (STAI) and Beck Depression Inventory (BDI) were applied to the caregivers in the beginning and at the end of the program.Patients' FEV1 levels and 6-min walk tests were also measured.Results: Twenty-eight patient-caregiver dyads, 14 dyads in each group, completed the study. The initial mean RCADS-Major depressive disorder score of the patients in the exercise group was 6.21 ± 3.11, and this value decreased to 3.92 ± 3.79 at the end of the study and was significantly better (p < 0.02). A similar significant change was observed when the RCADS-generalized anxiety disorder score decreased from the initial mean level of 6.28 ± 2.81 to 3.42 ± 2.65 (p < 0.01). There were significant changes in improvement in the body image in telerehabilitation group. Similar significant changes were not observed in the control group. Caregivers' anxiety and depression levels did not change significantly. Conclusion:A short-term telerehabilitation program improved patients' anxiety and depression levels, body image, and functional status. However, caregiver anxiety and depression levels did not change significantly.

Background Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University. Methods Two hundred fifty previously diagnosed CF patients were included in the study. CFTR gene exons 1 to 27 were amplified by a polymerase chain reaction and whole DNA sequencing was performed. Duplications and deletions were investigated by the multiplex ligation‐dependent probe amplification (MLPA) technique in patients with one or two unidentified mutations in sequence analysis. Results CFTR mutation analysis revealed 80 mutations and five large deletions were present in our study population. The five most common mutations were (delta) F508 (c.1521‐1523delCTT) (28.4%), 1677delTA (c.1545‐1546delTA) (6.4%), 2789 + 5G‐ > A (c.2657 + 5G > A) (5.8%), N1303K (c.3909C > G) (2.4%), and c.2183AA‐ > G (c.2051‐2052delAAinsG) (4.0%). Large deletions were found in 16 patients. Four novel mutations and two novel deletions were detected in this study. Conclusions We have identified four novel mutations and two novel deletions using next‐generation DNA sequencing and the MLPA technique and obtained an overall mutation detection rate of 91.4%. Detection of novel variants in CF patients will assist in genetic counseling and in determining appropriate patients for new therapies.

Background: The prevalence of non-cystic fibrosis (CF) bronchiectasis is increasing in both developed and developing countries in recent years. Although the main features remain similar, etiologies seem to change. Our aim was to evaluate the clinical and laboratory characteristics of our recent non-CF bronchiectasis patients and to compare these with our historical cohort in 2001. Methods: One hundred four children with non-CF bronchiectasis followed between 2002 and 2019 were enrolled. Age of diagnosis, underlying etiology and microorganisms in sputum culture were recorded. Clinical outcomes were evaluated in terms of lung function tests and annual pulmonary exacerbation rates at presentation and within the last 12 months. Results: Mean FEV1 and FVC %predicted at presentation improved compared to historical cohort (76.6 ± 17.1 vs. 63.3 ± 22.1 and 76.6 ± 15.1 vs. 67.3 ± 23.1, respectively; p < 0.001). There was a significant decrease in pulmonary exacerbation rate from 6.05 ± 2.88 at presentation to 3.23 ± 2.08 during follow-up (p < 0.0001). In 80.8% of patients, an underlying etiology was identified. There was an increase in primary ciliary dyskinesia (PCD) (32.7% vs. 6.3%; p = 0.001), decrease in idiopathic cases (19.2% vs. 37.8%; p = 0.03) with no change in postinfectious and immunodeficiencies as underlying etiology. Sputum cultures were positive in 77.9% of patients which was 46.9% in the historical cohort (p = 0.001). Conclusion: Baseline pulmonary function tests were better and distribution of underlying etiology had changed with a remarkable increase in diagnosis of PCD in the recent cohort.

Background Due to advances in technology, home ventilation in children has increased in recent years. The provision of proper care for a home‐ventilated (HV) child can have a strong impact on the lifestyle of caregivers. The aim of this study was to evaluate the depression and anxiety levels of the mothers of HV children during the current COVID‐19 pandemic and compare them to those of mothers of healthy peers. Methods This cross‐sectional study was conducted on HV children ( n = 21) and a control group of healthy peers ( n = 32) by means of a questionnaire completed by the mothers of the children of both groups. Psychometric scales, such as the Beck Depression Inventory (BDI), the State‐Trait Anxiety Inventory‐State (STAI‐S), and the State‐Trait Anxiety Inventory‐Trait (STAI‐T), were used to assess participants. Results During the pandemic signs of depression were present in 8 (38.1%) of the case group and 8 (25%) of the healthy control group. Comparison of the BDI scores from before and during the pandemic showed no difference between mothers of the HV children ( p = .09). Scores for BDI and STAI‐T were higher in the case group than in the control group, whereas there was no significant difference in STAI‐S scores. Conclusion Depression and anxiety levels of mothers of HV children were found to be higher during the COVID‐19 pandemic. Economic, medical, and social support resources are needed to reduce levels of depression and anxiety and help mothers of those children dependent on technology.

Background 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 Sixteen children with CLM (M/F: 9/7) and 30 age‐matched, healthy controls (M/F: 13/17) were included in the study. Demographic data were recorded and both groups were compared by spirometry and the nitrogen‐based Lung Clearance Index (LCI). Results Mean ± SD age of the patients was 12.0 ± 5.4 years. The mean forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), FEV1/FVC, and forced expiratory flow between 25% and 75% of force expiration (FEF25‐75) predicted was, 86.68 ± 16.65, 88.00 ± 14.58, 97.44 ± 9.89, and 79.00 ± 26.41, respectively in the patient group. Patients with CLM had significantly lower values in FEV1, FVC, FEF25‐75 than healthy controls (P = 0.002, P 0.007, P 0.045). While the 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 the patient group (P = 0.023; r: −0.581, P 0.017; r: −0.606 respectively). Conclusion This study revealed that, in long‐term follow‐up, patients who had surgery because of CLM have impairment in the pulmonary function compared to healthy children and LCI may be more accurate in detecting airway diseases early than spirometry.