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Objectives: Coronavirus disease 2019 pandemic caused many changes in the social behaviors of individuals and the provision of health systems. Many studies revealed reductions in the number of diagnoses and delays in diagnosis time during the pandemic. This study aimed to evaluate the effect of the pandemic on the time to diagnosis of major diseases of pediatric pulmonology. Materials and Methods: Newly diagnosed patients with cystic fibrosis (CF), childhood interstitial lung disease (chILD), tuberculosis (TB), and primary ciliary dyskinesia (PCD) were grouped into pandemic (group 1) and 2 consecutive pre-pandemic periods divided into equal intervals (groups 2 and 3). For each disease group, the time to diagnosis was compared between the specified periods. Results: A total number of patients were 171 in this study. In the CF group, there was no statistically difference in time to diagnosis between periods. In the chILD group, there was a statistically significant difference in time to diagnosis (P = .036) between groups (group 1: 2 months, group 2: 4 months and group 3: 10.5 months) that was not originated from pandemic period. In TB group there was no statistically significant difference between groups. In the PCD group, the impact of the pandemic on the time to diagnosis could not be clarified because the time interval to diagnosis (minimum: 2 years, maximum: 16 years) exceeded the studied periods (21 months). Conclusion: In our study, no effect found between the pandemic and age at diagnosis or time to diagnosis in patients with PCD, chILD, CF, and TB at our center. [ABSTRACT FROM AUTHOR]

This article discusses two cases of childhood interstitial lung disease (chILD) that may be related to telomere variants. chILD is a condition that affects the lungs and has a genetic component. Telomeres are nucleoprotein complexes that protect chromosomes, and variants in telomere-related genes can cause interstitial lung disease in adults. While only two cases of telomere-related variants in children have been reported, these cases highlight the importance of evaluating telomere length and variants in children with chILD. Further research is needed to understand the role of telomere diseases in childhood interstitial lung disease. [Extracted from the article]

Background. The lung clearance index (LCI) is a sensitive lung function index that is used to detect early lung disease changes in children with cystic fibrosis (CF). This study aimed to define the predictive role of baseline LCI, along with other potential factors on the change in forced expiratory volume in one second (FEV1) during one-year follow-up in CF patients who had a percent predicted (pp) FEV1 ≥80. Methods. LCI was concurrently performed on 57 CF patients who had ppFEV1 ≥80 at month zero. The ppFEV1 decline was evaluated prospectively during the one year follow up. The primary outcome of ppFEV1 decline in the study group in one year was dichotomized according to the median value for the decline in ppFEV1, which was 3.7. The LCI value predicting ppFEV1 decline at the end of one year was calculated with receiver operating characteristic curve analysis. Regression analysis was performed. Furthermore, a decision tree was constructed using classification and regression tree methods to better define the potential effect of confounders on the ppFEV1 decline. Results. The LCI value for predicting ppFEV1 decline >3.7% at the end of one year was 8.2 (area under the curve: 0.80) Multivariable regression analysis showed that the absence of the F508del mutation in at least one allele, LCI >8.2 and initial FEV1 z-score were predictors of a ppFEV1 decline >3.7 (p<0.001). Factors altering ppFEV1 decline>3.7% at the end of one-year evaluated by decision trees were as follows: initial FEV1 z-score, type of CFTR mutation, LCI value and initial weight-for-age z-score. Conclusions. LCI is sensitive for predicting ppFEV1 decline in patients with ppFEV1 ≥80 along with the initial FEV1-z-score and type of CFTR mutation. [ABSTRACT FROM AUTHOR]

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Background. We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline. Methods. All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. Results. Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV₁ in 2017 in Group 1 and between FEV₁ values in 2017 and 2018 in Group 2. Conclusions. There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral. [ABSTRACT FROM AUTHOR]

Objective: Chylothorax refers to the presence of chyle in the pleural space. There are multiple etiologies of chylothorax. Our aim in this study was to evaluate the clinical manifestations, causes, and treatment of chylothorax in childhood and also to show the differences between the 2 age groups admitted to a tertiary care children’s hospital. The second aim was to evaluate the clinical and radiologic features of patients diagnosed as having Gorham-Stout disease via chylothorax. Materials and Methods: The archives were reviewed for chylothorax documented in the last 31 years. Twenty-two patients (11 girls and 11 boys) were included. Patients were divided into 2 groups: the younger group aged under 24 months and the older group aged over 24 months. Results: A total of 22 patients had chylothorax, and 10 were aged younger than 24 months. In the younger group, etiologies were in order congenital heart surgery, congenital chylothorax, and Gorham-Stout disease. In the older group, etiologies were Gorham-Stout disease, congenital heart surgery, heart failure, heart transplantation, thrombus, intestinal lymphangiectasia, and idiopathic. The most common treatment in the younger group was the medium-chain triglyceride diet (70%), and in the older group, it was sirolimus (50%). Conclusion: There is a wide variety of underlying etiologies in childhood, so a multidisciplinary approach is important to identify the underlying diagnosis. The common etiologies were postoperative and Gorham-Stout disease in our study. All patients with Gorham-Stout disease had a good prognosis. Gorham-Stout disease should be considered in patients of any age with a diagnosis of chylothorax who have bone lesions. [ABSTRACT FROM AUTHOR]

Background: Many possible underlying causes can be seen in children with unexplained peripheral eosinophilia (UPE) with suspected pulmonary involvement. Here, we aimed to demonstrate the clinical characteristics and diagnoses of children evaluated for UPE who underwent diagnostic bronchoscopy. Methods: Thirty‐one children who underwent diagnostic bronchoscopy for UPE between 2006–2018 were included. Demographic characteristics, bronchoscopy findings and final diagnosis, and treatments were evaluated. Results: The median age at the time of diagnosis was 5 (0.25–17.5) years. The final diagnoses of 26 patients were as follows: immunodeficiency (n = 6); hyper‐IgE syndromes (n = 4), DOCK8 deficiency + HES (idiopathic hypereosinophilic syndrome; n = 1), and severe combined immunodeficiency (n = 1), HES (n = 3), idiopathic chronic eosinophilic pneumonia (ICEP; n = 3), idiopathic pulmonary hemosiderosis (n = 1), B cell lymphoma (n = 1). In one child, an integrin α3 mutation + cytomegalovirus (CMV) pneumonia was detected. Congenital pneumonia was found in one patient, and parasitic infection in another. In two, eosinophilia was attributed to underlying asthma and atopy. In four, the underlying reasons could not be elucidated. Two children with HES and one with ICEP were lost to follow‐up. There was no significant relationship between the peripheral eosinophil count at the time of diagnosis and the percentage of bronchoalveolar lavage eosinophils (BAL). Bronchoscopy contributed to the management of 14 (53.9%) patients. Conclusions: Bronchoscopy has potential diagnostic contribution in patients with UPE suspected of having pulmonary involvement. Numerous various underlying causes may be present in this patient group. There is no relation between peripheral eosinophil count and BAL eosinophil percentage. [ABSTRACT FROM AUTHOR]

Background. Placental transmogrification of the lung (PTL) is a clinical spectrum varying from asymptomatic to severe pulmonary impairment; such as recurrent pneumothorax, bronchopneumonia, respiratory distress syndrome and chronic obstructive airway disease. PTL usually presents as a bullous lesion, and rarely can appear in nodule or cyst formation on chest imaging. PTL with giant bullous emphysema has a male preference, is more commonly unilateral and mostly affects one lobe, but can rarely involve more than one lobe. Case. Here we report a 13-year-old boy presenting with bullous emphysema and coexisting with a borderline testicular tumor. He had no complaints of cough, sputum, or shortness of breath. He had a past medical history of pneumonia five years ago. In order to elucidate the underlying lung pathology, a wedge lung biopsy was performed and the patient was diagnosed with PTL. Scrotum ultrasonography was performed because of hydrocele in both testes, and bilateral epididymal cysts with papillary solid projections were reported. Pathological examination of the epididymal tumor revealed a "Mullerian type borderline epithelial neoplasm" which is an analogue of the ovarian serous borderline tumor. Conclusions. In conclusion, we reported the youngest PTL case in the literature, a rare disease with unknown pathophysiology, presenting as bullous emphysema and coincidental Mullerian type borderline epithelial neoplasm. It is important to diagnose placental transmogrification of the lung in a child with bullous emphysema because compared to other cystic lung diseases it is a benign disease and if no additional malignity exists, lobectomy or pneumonectomy is the cure for the disease. [ABSTRACT FROM AUTHOR]

Background. Methicillin-resistant Staphylococcus aureus (MRSA) rates have increased in cystic fibrosis (CF) patients. This study aimed to determine the rate of MRSA, define risk factors, and clarify the effect of MRSA on pulmonary functions, annual pulmonary exacerbation (aPEx) in children with MRSA positive CF. Methods. This was a retrospective case control study. CF patients who had =1 MRSA (+) respiratory culture between September 2016-2019 were included. MRSA growth rate, colonization status, clinical characteristics, hospitalization rates, FEV1 %predicted, and z-score one year prior to the MRSA isolation, at MRSA growth and one year after MRSA growth were recorded. The aPEx rate changes before-after MRSA growth were evaluated. Results. Sixty-one subjects who had =1MRSA growth and 66 controls were enrolled. There was no statistically significant difference between the spirometry indices at first, and 12th month after MRSA acquisition. The mean aPEx was 0.6 one year prior to MRSA acquisition and this rate significantly increased to 1.2 one year after MRSA growth(p<0.05). The mean hospitalization rate before and after one year of MRSA acquisition significantly increased from 0.17(±0.12) to 0.48 (±0.3)(p:0.008) admissions per year. Conclusions. MRSA growth was related to increased aPEx. Increased aPEx and hospitalization rates after MRSA acquisition suggest MRSA should be eradicated when detected. [ABSTRACT FROM AUTHOR]

Introduction: Acute exacerbations (AEs) increase morbidity and mortality of patients with chronic pulmonary diseases. Little is known about the characteristics and impact of AEs on children's interstitial lung disease (chILD).Methods: The Kids Lung Register collected data on AEs, the clinical course and quality of life (patient-reported outcomes - PRO) of rare paediatric lung diseases. Characteristics of AEs were obtained.Results: Data of 2822 AEs and 2887 register visits of 719 patients with chILD were recorded. AEs were characterised by increased levels of dyspnoea (74.1%), increased respiratory rate (58.6%) and increased oxygen demand (57.4%). Mostly, infections (94.4%) were suspected causing an AE. AEs between two register visits revealed a decline in predicted FEV1 (median -1.6%, IQR -8.0 to 3.9; p=0.001), predicted FVC (median -1.8%, IQR -7.5 to 3.9; p=0.004), chILD-specific questionnaire (median -1.3%, IQR -3.6 to 4.5; p=0.034) and the physical health summary score (median -3.1%, IQR -15.6 to 4.3; p=0.005) compared with no AEs in between visits. During the median observational period of 2.5 years (IQR 1.2-4.6), 81 patients died. For 49 of these patients (60.5%), mortality was associated with an AE.Conclusion: This is the first comprehensive study analysing the characteristics and impact on the clinical course of AEs in chILD. AEs have a significant and deleterious effect on the clinical course and health-related quality of life in chILD. [ABSTRACT FROM AUTHOR]

Background: No data on healthcare utilisation and associated costs for the many rare entities of children's interstitial lung diseases (chILD) exist. This paper portrays healthcare utilisation structures among individuals with chILD, provides a pan-European estimate of a 3-month interval per-capita costs and delineates crucial cost drivers.Methods: Based on longitudinal healthcare resource utilisation pattern of 445 children included in the Kids Lung Register diagnosed with chILD across 10 European countries, we delineated direct medical and non-medical costs of care per 3-month interval. Country-specific utilisation patterns were assessed with a children-tailored modification of the validated FIMA questionnaire and valued by German unit costs. Costs of care and their drivers were subsequently identified via gamma-distributed generalised linear regression models.Results: During the 3 months prior to inclusion into the registry (baseline), the rate of hospital admissions and inpatient days was high. Unadjusted direct medical per capita costs (€19 818) exceeded indirect (€1 907) and direct non-medical costs (€1 125) by far. Country-specific total costs ranged from €8 713 in Italy to €28 788 in Poland. Highest expenses were caused by the disease categories 'diffuse parenchymal lung disease (DPLD)-diffuse developmental disorders' (€45 536) and 'DPLD-unclear in the non-neonate' (€47 011). During a follow-up time of up to 5 years, direct medical costs dropped, whereas indirect costs and non-medical costs remained stable.Conclusions: This is the first prospective, longitudinal study analysing healthcare resource utilisation and costs for chILD across different European countries. Our results indicate that chILD is associated with high utilisation of healthcare services, placing a substantial economic burden on health systems. [ABSTRACT FROM AUTHOR]

Background. Cell culture increases both diagnostic specificity and sensitivity of primary ciliary dyskinesia (PCD) and the most important reason to use cell culture for definitive diagnosis in PCD is to exclude secondary ciliary defects. Here we aimed to evaluate the cilia functions and cilia ultrastructural abnormalities after ciliogenesis of cell culture in patients with definitive diagnosis of PCD. We also aimed to compare high speed videomicroscopy (HSVM) results of patients before and after ciliogenesis and to compare them with electron microscopy, genetic and immunofluorescence results in patients with positive diagnosis of PCD. Methods. This study was conducted as a cross-sectional study in patients with PCD. HSVM, transmission electron microscopy (TEM) and immunofluorescence staining results of the nasal biopsy samples taken from patients with the definitive diagnosis of PCD were evaluated and HSVM findings before and after cell culture were described. Results. Ciliogenesis and regrowth in the cell culture occurred in the nasal biopsy sample of eight patients with PCD. The mean age of the patients was 15.5±4.2 years (8.5-18 years). Mean beat frequency was found to be 7.54±1.01 hz (6.53-9.45 hz) before cell culture, and 7.36±0.86 hz (6.02-7.99 hz) after cell culture in the nasal biopsy of patients. There was no significant difference in the beat frequency of PCD patients before and after cell culture. Ciliary function analysis showed the similar beating pattern before and after cell culture in patients with PCD. Conclusions. This study showed us that there was no difference between cilia beat frequency and beat pattern before and after cell culture in patients with definitive diagnosis of PCD and repeated HSVM would be a useful diagnostic approach in patients who have no possibility to reach other diagnostic methods. [ABSTRACT FROM AUTHOR]

Objective: Asthma is the most common chronic lung disease in childhood. Difficult-to-treat asthma is defined as the continuation of symptoms or attacks of patients despite step 4 or 5 of Global Initiative for Asthma therapy. In the differential diagnosis of these patients, flexible fiberoptic bronchoscopy is recommended to exclude other lung diseases. In this study, we aimed to examine the clinical and radiologic features and flexible fiberoptic bronchoscopy findings of patients referred to our pediatric pulmonology department due to difficult-to-treat asthma and determine the effects of flexible fiberoptic bronchoscopy on the differential diagnosis and treatment. Materials and Methods: The demographic characteristics and flexible fiberoptic bronchoscopy results of 62 patients who were diagnosed as having difficult-to-treat asthma in our pediatric pulmonology department between January 2015 and June 2020 were evaluated retrospectively. The symptoms, history, medications, physical examination findings, pulmonary function tests, and radiologic findings of patients who underwent flexible fiberoptic bronchoscopy were evaluated. [ABSTRACT FROM AUTHOR]

This review aimed to highlight some important points derived from the presentations of the European Respiratory Society 2021 Virtual International Congress by a committee formed by the Early Career Task Group of the Turkish Thoracic Society. We summarized a wide range of topics including current developments of respiratory diseases and provided an overview of important and striking topics of the congress. Our primary motivation was to give some up-to-date information and new developments discussed during congress especially for the pulmonologists who did not have a chance to follow the congress. This review also committed an opportunity to get an overview of the newest data in the diverse fields of respiratory medicine such as post-coronavirus disease 2019, some new interventional and technologic developments related to respiratory health, and new treatment strategies. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to develop a scale to assess the psychiatric symptoms that may emerge owing to the coronavirus disease 2019 (COVID-19) pandemic period in children and adolescents aged 4-18 years. Material and Methods: To develop the scale, first, interviews with children, adolescents, and their parents were conducted, and the possible psychiatric symptom clusters were detected. The items were written with reference to the literature and reviewed by the experts. A 40-item scale form was shared as an online survey, and a factor analysis of the scale was carried out with data obtained from 441 participants. The test-retest reliability of the scale was carried out with data obtained from the 51 participants who filled the scale again after 14 days. Results: According to the item-total correlations and factor analysis results with 40 items, 5 items with low correlation and factor load or loaded same under the two factors were removed from the scale. The final form had 35 items and had a two-factor structure. The internal consistency coefficient of the scale was calculated as 0.96, and the test-retest correlation coefficient was 0.98. Conclusion: Coronavirus-related psychiatric symptom scale in children - parental form is a valid and reliable scale for measuring perceived psychiatric symptoms associated with COVID-19 pandemic in children aged 4-18 years by their parents. [ABSTRACT FROM AUTHOR]

Aminoacyl‐tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non‐canonical) functions outside of translation. Bi‐allelic pathogenic variants in genes encoding ARSs are associated with various recessive mitochondrial and multisystem disorders. We describe here a multisystem clinical phenotype based on bi‐allelic mutations in the two genes (FARSA, FARSB) encoding distinct subunits for tetrameric cytosolic phenylalanyl‐tRNA synthetase (FARS1). Interstitial lung disease with cholesterol pneumonitis on histology emerged as an early characteristic feature and significantly determined disease burden. Additional clinical characteristics of the patients included neurological findings, liver dysfunction, and connective tissue, muscular and vascular abnormalities. Structural modeling of newly identified missense mutations in the alpha subunit of FARS1, FARSA, showed exclusive mapping to the enzyme's conserved catalytic domain. Patient‐derived mutant cells displayed compromised aminoacylation activity in two cases, while remaining unaffected in another. Collectively, these findings expand current knowledge about the human ARS disease spectrum and support a loss of canonical and non‐canonical function in FARS1‐associated recessive disease. [ABSTRACT FROM AUTHOR]

Background: Autosomal recessive cutis laxa type IC (ARCL1C) is characterized by cutis laxa accompanied by pulmonary, gastrointestinal, urinary, musculoskeletal involvement caused by biallelic mutations in latent transforming growth factor-beta binding protein 4 (LTBP4) gene. The overall prognosis is poor, and most patients die in infancy because of severe pulmonary emphysema (PE). Aim: We aimed to evaluate 3 ARCL1C patients, 2 of whom are still alive and in their childhood period, from 2 unrelated families with novel LTBP4 mutations, to demonstrate the clinical variability of pulmonary involvement. Materials and Methods: Three children who were molecularly confirmed by LTBP4 sequencing analysis were comprehensively reviewed in terms of pulmonary manifestations through chest examination, lung function tests (LFTs), chest X-ray, and thorax computed tomography. Results: Family 1 (c.3740A>G LTBP4 mutation): A 5-year-old male patient with pulmonary artery stenosis (PAS) presented with persistent cough and exhibited mild restriction on LFT. Family 2 (c.2T>G LTBP4 mutation): Radiographic examinations revealed PE in a 7-year-old female patient who was operated for diaphragmatic hernia. She had recurrent bronchiolitis and pulmonary infections. LFT revealed both obstructive and restrictive pattern. Her cousin also had respiratory distress with the onset of the newborn period and died due to bilateral pneumothorax in early infancy. Conclusion: The variable severity of pulmonary findings was shown in these patients. It should also be kept in mind that there could be intrafamilial variability of systemic manifestations. Although obstructive lung disease is expected to be seen in ARLC1C patients, restrictive LFT patterns may also be detected as a result of comorbidities such as diaphragmatic hernia and PAS. [ABSTRACT FROM AUTHOR]