Zeynep Seda Uyan

Background: Advances in genetic analysis techniques and strategies have enabled the identification of rare novel genetic entities in children's interstitial lung disease (chILD). Aims: To describe an extensive array of demographic, clinical, radiological, and laboratory data from a national registry of children with diffuse lung disease caused by rare and novel genetic variants. Study Design: Retrospective cohort study. Methods: This study used data from the chILD Türkiye (chILD‐TR) registry to analyze rare genetic chILD subtypes, excluding surfactant protein gene variants, ABCA3 , and NKX2‐1 , between November 2021 and January 2024. Of 671 patients in chILD‐TR, 182 underwent genetic analysis excluding surfactant protein‐related variants, resulting in 37 patients identified with rare genetic variants included in the study. Results: Among the 37 patients with rare genetic variants, 19 (51.4%) were male, and the median age at diagnosis was 40.5 months (IQR 15.5–115.5). Genetic analysis conducted on 15 patients identified COPA , STAT3 , STING1 , ADA , ZNFX1 , PIK3CD , PLCG2 , OAS1, CCR2, RNF168 and ATM gene variants, which are associated with immunodeficiency/dysregulation and autoinflammation; 15 NPC1 , SMPD1 , GBA1 , SLC7A7 , MARS1 , FARSB , and PEPD genes, variants linked to inherent metabolic errors. Seven patients were found with TBX4 , SLC34A2 , PLG , and SMAD4 gene variants. All patients were born at term, and five (13.5%) of them were small for gestational age. Two patients (5.4%) had previously been on a mechanical ventilator in the neonatal intensive care unit, 25(67.6%) had familial consanguinity, and 23 (62.1%) had comorbid systemic disease. Thirteen patients (35.1%) required oxygen support. All patients underwent chest computed tomography scans at initial assessment, showing ground‐glass opacities in 29 (78.3%), infiltrations in 27 (72.9%), and interlobular septal thickening in 20 (54%). Eight patients (21.6%) received oral steroids, and six (16.2%) received pulse steroids in addition to their primary treatments for systemic diseases. Conclusions: Interstitial lung disease rarely occurs in children, but increased awareness and genetic testing may enable earlier diagnosis. Recognizing that diffuse parenchymal lung disease can occur in rare systemic diseases may improve diagnoses and treatment.

Environmental exposure to irritants may contribute to asthma pathogenesis through increased epithelial permeability. This study aimed to investigate the association between chlorinated swimming pool exposure and allergic diseases, as well as its relationship with objective markers of airway inflammation, epithelial permeability, bronchial hyperreactivity, and atopy in elite swimmers. This cross-sectional study was conducted among pediatric swimmers attending a professional swimming club in Istanbul. All eligible participants were invited to complete the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. A subset underwent objective assessments, including exercise-induced bronchoconstriction testing, measurement of fractional exhaled nitric oxide (FeNO), serum surfactant protein-D (SP-D), serum club cell protein (CC16), and total and aeroallergen-specific immunoglobulin E (IgE) measurements. Of the 172 invited children, 169 (98%) completed the questionnaire, and 84 (49%) underwent objective assessments (44% male; mean age 10.0 ± 2.1 years). The median duration of swimming and cumulative pool attendance were 36 months and 1430 h, respectively. The prevalence of atopy was 41.6%. Among the participating swimmers, the prevalence of asthma (ever, current, and physician-diagnosed) was 25%, 9.5%, and 15.5%, respectively. Corresponding prevalences for eczema were 16.7%, 4.8%, and 7.1%, and for allergic rhinitis were 19.0%, 19.0%, and 16.7%. Cumulative exposure to chlorinated swimming pools was not associated with allergic diseases, airway inflammation, epithelial permeability, or bronchial hyperreactivity. However, children who had been swimming for more than 72 months demonstrated higher rates of atopy and current allergic symptoms. In this cohort of elite swimmers, cumulative exposure to chlorinated swimming pools was not associated with allergic diseases or objective markers of airway inflammation. However, given the cross-sectional design, these findings should be interpreted with caution. The observed association between longer swimming duration and atopy appears to be exploratory. Overall, chlorinated pool exposure alone may be unlikely to be a major determinant of allergic disease in this population. • Chlorinated pool exposure has been proposed to contribute to asthma and allergic diseases through airway epithelial injury; however, findings in pediatric populations are inconsistent, and many studies rely primarily on questionnaire-based data without objective airway assessments. • In this cohort of elite swimmers, cumulative pool exposure was not associated with allergic diseases or objective markers of airway inflammation and epithelial integrity. However, longer swimming duration was associated with increased atopy, and subgroup analyses suggested that early-life exposure in combination with tobacco smoke may influence airway inflammation.

Background. Flexible bronchoscopy (FB) is a critical diagnostic and therapeutic tool in respiratory diseases, enabling airway assessment, sample collection, and therapeutic interventions. Despite international guidelines, practices vary widely across centers. This study aimed to assess current FB practices and to identify variations among pediatric pulmonologists in Türkiye. Methods. A descriptive cross-sectional survey was distributed via email to clinical directors of 19 centers performing FB in March 2023. The survey comprised 80 questions across seven domains: demographics, patient preparation, bronchoscopy procedure, sedation/anesthesia, discharge, bronchoscope cleaning, and respondent comments. Participants were asked to provide accurate and objective data on FB practices at their centers. Results. All 19 centers participated in the survey, achieving a 100% response rate. The median FB experience was 12.5 years (IQR: 1-30), with a median 210 procedures per year per center (min-max: 30-500; IQR: 80-250). The most frequently reported indications were atelectasis (84.2%), bronchiectasis (78.9%), suspected foreign body aspiration (52.6%), and to obtain bronchoalveolar lavage (BAL) in patients with immunodeficiency (52.6%). Nine centers (47.4%) indicated performing advanced bronchoscopic procedures, including endobronchial biopsy (31.6%), bronchoscopic intubations (26.3%), and tracheal/bronchial stent insertion (10.5%). General anesthesia (84.2%) was the predominant sedation method, and propofol (89.5%) the most frequently used agent. Premedication was used in 13 centers (68.4%), with midazolam being the most commonly used agent (76.9%). Twelve centers (63.2%) also used topical lidocaine for local anesthesia. Respondents reported the need for developing interventional procedures and increasing the number of trained bronchoscopy teams. Conclusions. This first comprehensive national survey of pediatric FB practices in Türkiye, encompassing all relevant centers, revealed significant heterogeneity in procedural approaches, particularly regarding sedation protocols, BAL techniques, and interventional capabilities. The findings underscore the importance of developing interventional procedures and enhancing the training of pediatric pulmonologists and interdisciplinary teams practicing pediatric bronchoscopy to improve patient outcomes and procedural consistency.

Childhood interstitial lung diseases (chILD) include a diverse range of rare disorders, complex clinical progressions, and high rates of morbidity and mortality. This study aims to assess the clinical and psychosocial impacts of chILD in children registered in the National chILD-Turkiye database. Data from 17 centers were analyzed as of January 2024. Patients aged 1 month to 18 years were included in the study. Through face-to-face interviews, patients and their families completed the Pediatric Quality of Life Inventory (PedsQL™ 4.0 Generic Core Scales) and PedsQL™ 2.0 Family Impact Module. Higher scores suggest better performance and higher health-related quality of life (HRQoL). Patient clinic data, demographic information, pulmonary function tests, Fan scores, and household income were recorded. Patients were categorized into two groups according to their use of O ₂ therapy and diffuse progressive lung disease (DPLD) groups A and B. The study included 175 patients (90 girls), with a median age of 7.7 (1.0–17.8) years. A strong positive correlation was found between the FEV1% value and both the Physical Health Summary Score and the Total Score ( p = 0.007, r = 0.608; p = 0.008, r = 0.607). The Fan score negatively correlated with PedsQL™ scores ( p < 0.001). Patients who use O ₂ have an earlier diagnosis of age of chILD, lower FEV1%, higher Fan scores, and lower Child Self-Reports and Parent Reports scores ( p < 0.05). The group with DPLD-A disorders has an earlier diagnosis age, lower weight and BMI z-scores, higher Fan score, and higher Family Impact Module score ( p < 0.05). Conclusion : Lung function and Fan score strongly correlate with HRQoL, emphasizing the impact of disease severity on physical and psychosocial well-being. These findings highlight the need for multidisciplinary care and psychosocial support to enhance the QoL in children with chILD and their families. What is Known: • Childhood interstitial lung diseases (chILD) are rare and diverse disorders associated with significant morbidity and complex management. • Evidence regarding health-related quality of life (HRQoL) and the psychosocial burden on affected families remains limited. What is New: • This multicenter national registry–based study provides the first comprehensive evaluation of HRQoL and family impact in children with chILD in Türkiye. • Lung function impairment and higher Fan severity scores were strongly linked to poorerHRQoL, highlighting the influence of disease severity on physical and psychosocial well-being.

Objectives: To assess parental attitudes and practices regarding toothpaste usage in preschool children attending paediatric outpatient clinics in Istanbul, Türkiye, and to examine associations with socio‐demographic characteristics. Methods: A cross‐sectional questionnaire study was conducted among 203 parents of children under 6 years attending paediatric outpatient departments at two university hospitals in Istanbul (June 2022–February 2023). Toothpaste‐related items covered: whether toothpaste was used during brushing and how frequently; reasons for toothpaste usage; whether the child had a separate toothpaste; age at which toothpaste was introduced; who applied toothpaste; amount used; post‐brushing behaviour; criteria when choosing toothpaste; and reasons for brand selection. Chi‐square tests and Z tests with Bonferroni correction assessed associations with parent age, education, sex, number of children and child age group. Results: The majority of children (84.2%) were reported to use toothpaste during toothbrushing, while only 71.4% used it every time. Only 12.3% of parents started using toothpaste immediately after eruption of the first deciduous teeth, while 70.2% began between ages 1–3 years. More than half of parents (59.1%) put toothpaste on their children’s toothbrush themselves, and 64.9% used less than 1/3 of the brush length. However, 22.4% of children swallowed toothpaste while brushing, significantly more common in children under 2 years (61.5%) and in single‐child families (32.9% vs. 11.1%; p = 0.020). Consistent toothpaste usage was significantly associated with child age ( p < 0.001) and parent age ( p < 0.001). Most parents (87.1%) considered the contents of toothpaste when choosing, while only 8.8% specifically mentioned fluoride. Nearly half (47.6%) chose their toothpaste brand due to organic/herbal ingredients, and the most popular brand chosen was a fluoride‐free product (29.9%). Conclusions: Despite high overall rates of toothpaste usage, important gaps remain: delayed introduction, high rates of toothpaste swallowing among young children and critically low awareness of fluoride as a key toothpaste ingredient. Targeted parental education, particularly on the benefits of fluoridated toothpaste, appropriate quantity and correct post‐brushing behaviour, is urgently needed.

Background: Complications such as parapneumonic effusion (PPE) and necrotizing pneumonia (NP) can be noted in 3% of patients with community‐acquired pneumonia and may cause functional lung damage. Objective: We aimed to investigate the short‐ and long‐term effects of PPE and NP on lung function and the impact of treatment modalities and radiological sequelae on results. Material and Methods: This multicenter retrospective study includes children aged 0–18 years hospitalized for PPE and NP after community‐acquired pneumonia. Demographic, clinical, radiological, and spirometry findings were collected during diagnosis and follow‐up. Results: Of 123 children (62 female, median age 57 [interquartile range 71.5] months), 78 were diagnosed with NP and 45 with PPE. According to the defined periods, spirometric evaluation was performed in the first 3 months in 23 patients, between the 3rd and 6th months in 27 patients, and between the 6th and 9th months in 37 patients. At 3 months post‐discharge, abnormal spirometry (18.18% restrictive, 36.36% combined spirometry) was observed with a rate of 54.54% in NP, and with a rate of 25.0% (8.33% restrictive, 16.66% combined spirometry) in PPE. At 6‐9 months, normal spirometry was observed with a rate of 87% in both groups. FVC% values increased over time in both the NP and PPE groups; however, statistically significant improvement was observed only in the PPE group. In this group, FVC% was significantly higher in the patients who received antibiotics with chest tube and/or fibrinolytic therapy ( p = 0.022). Furthermore, those without radiological sequelae had significantly higher FVC% values compared to those with sequelae ( p = 0.023) in the PPE group. Conclusion: Radiological sequelae and restrictive spirometric patterns were initially more common in NP compared to PPE. However, spirometry indicated significant improvement in both groups by the end of the 9‐month follow‐up period.

Long-term Home Mechanical Ventilation of Children in İstanbul - Thoracic Research and Practice

Aim: Antibiotics have an important role in the treatment of cystic fibrosis (CF) lung disease. Antibiotic resistance, especially multidrug resistance (MDR), increases in CF. This study aimed to determine whether there is a change in antibiotic resistance of pathogens isolated from the respiratory tract specimens of CF patients and to evaluate the relationship between the antibiotic resistance and patients’ clinical status and pulmonary function. Material and Methods: Thirty-nine CF patients with identified microorganisms in respiratory tract specimens from August 2010 through December 2016 were included in the study. 333 respiratory cultures taken from 39 CF patients were analyzed retrospectively. Results: Methicillin-sensitive S. aureus (MSSA) was isolated from 122 (31.0%) cultures, P. aeruginosa from 97 (24.7%), and methicillin-resistant S. aureus (MRSA) from 22 (5.6%). The prevalence of MSSA (p=0.020) and MRSA (p=0.010) increased from 2010 to 2016, while the prevalence of P. aeruginosa and other microorganisms did not increase. MDR-S. aureus and MDR-P. aeruginosa prevalence did not change, but MRSA prevalence increased over the years (p=0.001). There was a significant relation between the antibiotic resistance and acute pulmonary exacerbations, pulmonary examination findings, loss in weight and height percentile. As the antibiotic resistance increased, FEV1, FVC, FEV1/FVC, PEF, and FEF25-75 were significantly decreased. The use of long-term azithromycin or inhaled antibiotics was not associated with antibiotic resistance. Conclusion: In CF patients, resistance to antibiotics increased over the years. It is important to obtain respiratory tract cultures regularly and initiate rational antibiotic treatment based on culture results.

Background and Objectives: Children with tracheostomies are at increased risk of tracheostomy‐related complications and require extra care. Standardized training programs for caregivers can improve tracheostomy care and reduce complications. In this study, we compared caregiver knowledge and skill scores after a standardized theoretical and practical training program on tracheostomy care (IStanbul PAediatric Tracheostomy (ISPAT) project) immediately and 1 year post‐training and evaluated how this training affected the children's clinical outcomes.Materials and Methods: We included 32 caregivers (31 children) who had received standardized training a year ago and administered the same theoretical and practical tests 1 year after training completion. We recorded tracheostomy‐related complications and the number and reasons for admission to the healthcare centers. All data just before the training and 1 year after training completion were compared.Results: After 1 year of training completion, the median number of correct answers on the theoretical test increased to 16.5 from 12 at pretest (p < 0.001). Compared with pretest, at 1‐year post‐training practical skills assessment scores, including cannula exchange and aspiration, were significantly higher (both p < 0.001) and mucus plug, bleeding, and stoma infection reduced significantly (p = 0.002, 0.022, and 0.004, respectively). Hands‐on‐training scores were better than pretest but declined slightly at 1 year compared to testing immediately after training. Emergency admission decreased from 64.5% to 32.3% (p = 0.013). Hospitalization decreased from 61.3% to 35.5% (p = 0.039).Conclusion: Our findings indicate that caregiver training can lead to a persistent increase in knowledge and skill for as long as 1 year, as well as improvements in several measurable outcomes, although a slight decrease in scores warrants annual repetitions of the training program.