Background Cystic fibrosis (CF) is a multisystemic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene, resulting in defective synthesis or function of the CFTR protein. Historically, CF treatment focused on managing symptoms and complications. Fortunately, modulator drugs are now available to directly target the defective CFTR protein. However, in some countries, such as Turkey, these drugs are not covered by social insurance. Consequently, many CF patients face barriers to accessing modulatory therapies or must interrupt their treatment. This study demonstrates the impact of interrupting modulator therapy on pulmonary function, emphasizing the need for uninterrupted continuous treatment. Methods In this study, 39 CF patients receiving elexacaftor-tezacaftor-ivacaftor (ETI) at our clinic were retrospectively analyzed. Among the patients, 18 experienced one or more interruptions, ranging from 15 to 210 days during ETI treatment. We analyzed pulmonary function test results from 27 interruption periods. Results At the beginning of the interruption, the mean percent predicted FEV1 (ppFEV1) was 69.59 ± 25.87%, which decreased to 64.96 ± 24.52% by the end of the interruption. There was a significant decrease with a mean change of 4.62 ± 8.49 (p = 0.008). However, no significant correlation was found between the interruption duration and FEV1 change. Conclusion Our results demonstrate that pulmonary functions are adversely affected by interruption periods, regardless of their duration. Even short interruptions have a significant impact on pulmonary functions. This underscores the need for uninterrupted continuation of modulatory treatment and for improved policies to ensure equitable access to treatment.

not-yet-known not-yet-known not-yet-known unknown Background: Allergic bronchopulmonary aspergillosis (ABPA), which is one of the respiratory complications of cystic fibrosis, is a hypersensitivity reaction in the lung against the antigens of the fungus Aspergillus fumigatus ( A.fumigatus). If left untreated, it may cause irreversible deteriorations in lung functions. The aim of this study is to determine the incidence of ABPA, according to years and to determine the risk factors leading to the development of ABPA by using the CF Registry System of Turkey data. Methods: The study was designed as a retrospective cohort study. Using the CF Registry System of Turkey data, the incidence of ABPA was determined and the data of 44 patients newly diagnosed with ABPA in 2022 and 132 patients with similar mutation weight and age range without ABPA diagnosis in that year were compared, and the risk factors affecting the development of ABPA were determined. Results: Low pulmonary function test values, having had at least one pulmonary exacerbation in that year and receiving intravenous antibiotic treatment, using inhaled antibiotics, having a high number of pulmonary exacerbations, having Pseudomonas aeroginosa (P.aeroginosa) colonization, having a low body mass index (BMI) and having cystic fibrosis related diabetes mellitus (CFRD) were found to be among the risk factors for the development of ABPA. Conclusions: Early recognition and treatment of ABPA is essential to prevent further damage to the lungs. Patients with frequent pulmonary exacerbations, low BMI and low pulmonary function test values, chronic colonization should definitely be considered for ABPA.

Introduction : Pulmonary involvement is the main prognostic factor in children with spinal muscular atrophy (SMA). Nusinersen, a new treatment modality, is being evaluated in recent studies, although the respiratory part has not yet been clarified. We aimed to reveal the effects of nusinersen on the respiratory functions of patients with spinal muscular atrophy (SMA). Methods : In this single-center randomised study, conducted between June 2020/July 2021, patients with SMA were evaluated before and during nusinersen therapy. Data were collected on respiratory status, nutritional support, motor involvement, and other comorbidities that may affect the disease prognosis. Results : Patients with the number of 43 (18 type1, 12 type2, 13 type3) with a mean age of diagnosis of 10 months (range 1.5-192) and 24 months (3-219) at the start of nusinersen therapy were included. An improvement in respiratory status was noted in six patients between the second and third assessment. SMN2 copy numbers were significantly associated with better prognosis. Early initiation of nusinersen was significantly correlated with reduced hospital admissions. Nutritional support and weight gain were remarkable in the ventilatory supported group. A significant improvement was observed in motor functions, and chop-intend scores were statistically significantly higher in non-tracheostomized group (p<0.005). Conclusion : We think that nusinersen’s effect may be significant with early initiation and continuation of treatment. Improvements in respiratory functions noted in our study require to be supported with future long-term studies considering the overall genetic and environmental status, even the cost-effectiveness,to make a global consensus on nusinersen therapy.

Objectives: To follow-up pediatric CF patients—in terms of health status and nutritional status—via Telehealth services during the COVID-19 pandemic. Additional aims were to measure the level of anxiety in the patients and their parents, and to determine the COVID-19 transmission status in the CF patients. Materials and Methods: The CF team supported the patients via remote contact, including dedicated telephone lines. During Telehealth Services interviews, in addition to obtaining information about the patients’ anthropometric measurements, health status, and CF-related complaints, the State-Trait Anxiety Inventory (STAI) was administered to the patients and the Hospital Anxiety and Depression Scale (HAD) was administered to their parents. Results: The study included 144 pediatric CF patients (74 male and 70 female). Mean age of the patients was 8.9 years. In all, 42 (29.2%) of the patients were tested for COVID-19, of which 4 were positive. The mean STAI score was significantly lower in the patient group than in the control group (P < 0.001). The mean HAD anxiety score was significantly higher in the parents of the CF patients, as compared to the parents of the controls (P = 0.005). The mean HAD depression score was also statistically higher in the parents of the CF patients (P < 0.001). Conclusion: Telehealth is an innovative method for providing healthcare services while maintaining social distancing, avoiding the risk of exposure and spread of COVID-19. Telehealth services reduce patients’ and parents’ anxiety, and increases their confidence in managing CF-related complications.