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BACKGROUND Non-tuberculous mycobacteria (NTM) can cause chronic lung infection particularly in patients who have structural lung disease such as cystic fibrosis (CF). We evaluated the incidence and management of NTM infections in patients with CF in our center. METHODS A retrospective cohort study was carried out on CF patients having at least one positive NTM isolate between 2012 and 2020. RESULTS Ten patients (2.1%) had at least one positive NTM culture from respiratory samples. All of them were vaccinated with Bacille Calmette-Guerin (BCG) vaccine, which is in the national vaccination program in our country. Eight patients had the Mycobacterium abscessus complex, one had Mycobacterium avium, and one had Mycobacterium szulgai growth in their respiratory samples. Three patients had transient NTM infection, two had persistent, and five had active NTM infection (NTM pulmonary disease). Patients with NTM pulmonary disease received antibiogram-directed antimycobacterial therapy. In patients with NTM pulmonary disease, the median ppFEV1 and BMI decreased by 17% and 1%, respectively, at the time of the first NTM isolation when compared with the values one year before the first NTM isolation. Culture conversion was not seen in any patient infected with Mycobacteriunm abscessus complex. CONCLUSIONS The NTM infection incidence is lower in our country than in those countries where the BCG vaccine is not routinely applied. The BCG vaccine may be a protective factor for NTM infection. Further studies are needed about the prevalence of NTM infections, facilitating and protective factors, and appropriate management of NTM infections in patients with CF.

The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated with severe sleep apnea. A total of 81 children with Down syndrome referred for full-night polysomnography were analyzed. In addition, parental interviews were performed for each child. Data were available for 81 children, with a mean age of 4.8 years. Severe obstructive sleep apnea was determined in 53.1%. Age, sex, exposure to second-hand smoke, clinical findings, anthropometric features, and the presence of comorbidities were not predictors of severe obstructive sleep apnea. Children who were exposed to second-hand smoke had more sleep-related symptoms. Even in children without symptoms, the prevalence of severe obstructive sleep apnea was 40%. Moreover, 86% of parents had no previous information regarding possible sleep breathing disorders in their children. Clinically significant central apnea was present in 10 patients (12.3%). Conclusion: Our results demonstrate that severe obstructive sleep apnea is common in children with Down syndrome, even in children without a history of symptoms of sleep apnea. It is not possible to predict patients with severe apnea; thus, screening of children with Down syndrome beginning from young ages is very important. Central apneas could be a part of the spectrum of sleep abnormalities in Down syndrome.

Cystic fibrosis (CF) is an autosomal recessive disease caused by CFTR gene mutations. Despite having the same mutation, CF patients may demonstrate clinical variability in severity and prognosis of the disease. In this study, we aimed to determine differentially expressed genes between mild and severe siblings with same genotype. We performed targeted real-time polymerase chain reaction based transcriptomic analysis of nasal epithelial cells obtained from two families with two siblings with Class II mutations (F508del/F508del) and (F508del/G85E), one family with three siblings with Class IV mutation (I1234V/I1234V). In severe siblings with Class II mutations, TNFRSF11A, KCNE1, STX1A, SLC9A3R2 were found to be up regulated. CXCL1, CFTR, CXCL2 were found to be down regulated. In the severe sibling with Class IV mutation; mainly genes responsible from complement and coagulation system were identified. Comparison of CF patients to non-CF control; showed that ICAM1 was up regulated whereas EZR, TNFRSF1A, HSPA1A were down regulated in patients. As a result of this study, differentially expressed genes responsible for clinical severity among affected siblings carrying the same mutation were identified. The results will provide an opportunity for the development of novel target molecules for treatment of disease.

Background Lung ultrasound (LUS) has been successfully used in the diagnosis of different pulmonary diseases. Present study design to determine the diagnostic value of LUS in the evaluation of children with COVID-19. Method and objectives Prospective multi-center study, 40 children with confirmed COVID-19 were included. LUS was performed to all patients at admission. The chest X-ray and CT were performed according to the decision of the primary physicians. LUS results were compared with chest X-ray and CT findings and diagnostic performance was determined. Results Of the 40 children median (range) was 10.5 (0.4-17.8) years. Chest X-ray and LUS were performed on all and chest CT was performed on 28 (70%) patients at the time of diagnosis. Sixteen (40%) patients had no apparent chest CT abnormalities suggestive of COVID-19, whereas 12 (30%) had abnormalities. LUS confirmed the diagnosis of pulmonary involvement in 10 out of 12 patients with positive CT findings. LUS demonstrated normal lung patterns among 15 patients out of 16 who had normal CT features. The sensitivity and the area under the ROC curve (AUC) identified by the chest X-ray and LUS tests were compared and statistically significantly different (McNemar's test: p-value 0.016 and 0.001 respectively) detected. Chest X-ray displayed false-negative results for pulmonary involvement in 75% whereas for LUS it was 16.7%. Conclusions LUS might be a useful tool in the diagnostic steps of children with COVID-19. A reduction in chest CT assessments may be possible when LUS is used in the initial diagnostic steps for these children. This article is protected by copyright. All rights reserved.

BACKGROUND Respiratory viruses (RVs) are frequently present in the airways of patients with cystic fibrosis (CF) during pulmonary exacerbations (PEx). METHOD AND OBJECTIVES This prospective, longitudinal study was performed to examine the role of RVs in acute exacerbations in children with CF. Sputum samples or additional midturbinate swabs were tested from all children using a polymerase chain reaction panel. The primary aims of the study were to determine the prevalence and etiologic role of RVs in exacerbations of CF and to compare changes with RV-positive and RV-negative infections. The secondary aims were to determine the predictive factors for RV-related exacerbations. RESULTS From 50 patients with PEx, 23 (48.9%) sputum samples were virus-positive. With a combination of sputum and swab, viral positivity increased to 56%. The virus-positive group presented more frequently with hypoxia (oxygen saturation

We investigated plasma sphingomyelin (CerPCho) and ceramide (Cer) levels in pediatric patients with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD). Plasma samples were obtained from CF (n = 19) and PCD (n = 7) patients at exacerbation, discharge, and stable periods. Healthy children (n = 17) of similar age served as control. Levels of 16-24 CerPCho and 16-24 Cer were measured by LC-MS/MS. Concentrations of all CerPCho and Cer species measured at exacerbation were significantly lower in patients with CF than PCD. 16, 18, 24 CerPCho, and 22, 24 Cer in exacerbation; 18, 24 CerPCho, and 18, 20, 22, 24 Cer at discharge; 18, 24 CerPCho and 24 Cer at stable period were significantly lower in CF patients than healthy children (p

BACKGROUND Mannose-binding lectin (MBL) is a complement protein involved in the innate immune system, and is associated with some chronic respiratory diseases including noncystic fibrosis (non-CF) bronchiectasis in adults. The aim of this study was to investigate the frequency of MBL2 gene polymorphisms in children with non-CF bronchiectasis, and the effect of MBL deficiency on disease severity. METHODS Fifty children with non-CF bronchiectasis (bronchiectasis group) and 50 healthy controls (control group) were included. The demographic findings, number of acute pulmonary exacerbations in the previous year, airway cultures, pulmonary function tests, and radiologic scores of the bronchiectasis group were recorded. DNA extraction was performed in both groups and MBL2 gene polymorphisms in codons 52, 54, 57 in exon 1 and H/L, Y/X in the promoter region were studied using real-time polymerase chain reaction. Haplotypes were made by genotypes, and MBL serum expression was classified according to the genotypes in the literature. RESULTS The bronchiectasis group consisted of 23 (46%) patients with primary ciliary dyskinesia, 5 (10%) with primary immunodeficiency diseases, and 22 (44%) with idiopathic bronchiectasis. There were no statistically significant differences between the bronchiectasis and control groups in terms of allele and genotype frequencies of polymorphisms in codons 52, 54, 57 in exon 1 and promoter H/L. However, the YX heterozygote genotype was more frequent in the control group (82%) compared with the bronchiectasis group (50%) (P = .002). The frequency of patients with intermediate serum MBL expression genotype was higher in the bronchiectasis group (20%) than in the control group (0%) (P = .001). In the bronchiectasis group, there were no significant differences in growth, annual pulmonary exacerbation rates in the last year, pulmonary function tests, radiologic scores, and microbiologic findings between low, intermediate, and high-expressing genotypes. CONCLUSIONS In children with non-CF bronchiectasis, MBL genotype was different from healthy controls. MBL deficiency associated only with MBL genotype was not related to disease severity in this group of patients.

Background and objective Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients. Method This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole-exome sequencing at our single center from a total of 265 patients with PCD within a 5-year period. Results Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = 9 individuals, six families), RSPH4A (n = 5 individuals, three families), DNAH11 (n = 4 individuals, four families), HYDIN (n = 5 individuals, five families), CCNO (n = 4 individuals, four families), DNAI1 (n = 2 individuals, one family), ARMC4 (n = 2 individuals, two families), TTC25 (n = 1), DNAH1 (n = 1), and CCDC39 (n = 1) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months-4 years) in patients with CCNO pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI z scores were lower in patients at 18.7 and 16 kg/m2 , and -0.78 and -1.2 with CCDC40 and CCNO pathogenic variants, respectively. The median forced expiratory flow in 1 second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25-75% were 53%, 64%, and 28%, respectively; these parameters were also lower in the CCDC40 group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD. Conclusion In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in CCNO presented earlier, and those with CCDC40 and CCNO had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype-phenotype and clinical relationships will be identified in PCD.

Background We investigated plasma YKL-40 levels and chitotriosidase (CHIT1) activity in patients with cystic fibrosis (CF) lung disease and evaluated clinically relevant factors that may affect their levels. Methods Plasma samples were obtained from pediatric (n = 19) and adult patients (n = 15) during exacerbation, discharge and stable period of the disease. YKL-40 levels and chitotriosidase activity were measured by enzyme-linked immunosorbent assay and fluorometric assay, respectively. Data were compared with healthy children and adults of similar age. Results YKL-40 levels of pediatric and adult CF patients at all periods were significantly higher than controls (p

Objectives To evaluate the risk factors of recurrent pulmonary exacerbation and poor prognosis in children with idiopathic pulmonary hemosiderosis (IPH). Methods In this multicenter study, 54 patients with a diagnosis of idiopathic pulmonary hemosiderosis were included. Medical records were retrospectively reviewed from three tertiary care hospitals between 1979 and 2019. Also, current information and the long-term progress of patients was determined by contacting the families by telephone. Results A total of 54 children were included. The median age of onset of symptoms was 4.5 years (3 months to 15.8 years). The median time from onset to diagnosis was 0.9 years (0.25 months to 12 years). The mean number of recurrent episodes per child in the recurrence-positive group was 3.55 (1-15). Univariate analysis demonstrated that patients presenting with hypoxia or requiring transfusion at the time of presentation had significantly more recurrence episodes (P=0.002). Multivariate analysis showed that the presence of hypoxia at the time of initial presentation was a significant independent predictor of recurrent episodes (P=0.027). The median follow-up was 3.3 years (0.75 months-27 years). There was a significant relationship between the presence of hypoxia, transfusion history, ANA positivity, and elevated transaminases at the time of initial evaluation and treatment response. Conclusions The present study provides substantial information regarding factors that may affect recurrent exacerbations and prognosis in children with idiopathic pulmonary hemosiderosis. Demonstrating hypoxia as an independent risk factor in recurrence episodes could guide physicians in the planning of treatment strategies. This article is protected by copyright. All rights reserved.

Amaç: İdiopatik pulmoner hemosideroz (İPH), tekrarlayan hemoptizi, demir eksikliği anemisi ve pulmoner infiltrasyonlar ile giden nadir bir hastalıktır. Bu çalışmada başlangıçta anemi ve/veya retikülosit yüksekliği bulunan ve İPH tanısı alan hastaların özelliklerinin incelenmesi amaçlanmıştır. Gereç ve Yöntemler: Anemi ve/veya retikülosit yüksekliği ile başvurup İPH tanısı almış ve Hacettepe Çocuk Göğüs Hastalıkları bölümünde takipte olan hastalar retrospektif olarak incelendi.Bulgular: Çalışmaya dahil edilen 14 hastanın dokuzu (%64.3) kızdı. Ortanca tanı yaşı 60 ay (IQR: 42)’di. Şikayetler ile tanı arasında geçen ortanca süre 12 ay (IQR:15.5)’di. Ortanca başvuru hemoglobin (Hb) düzeyleri 6.7 g/dL (IQR: 4.07), ortanca retikülosit yüzdesi 5.1 (IQR: 3.2)’di. Tanı anında hastaların sadece 5’sinde (%35.71) hastalığın klasik triadı olan hemoptizi, demir eksikliği anemisi ve pulmoner infiltrasyon bulguları saptandı. Oniki (%85.7) hastada tanı anında anormal akciğer grafisi saptandı. On (71.4%) hastaya başlangıçta pnömoni tanısı konulduğu kaydedildi. Tanı öncesinde 12 (%85.7) hastada demir eksikliği anemisi saptanarak tedavi verildiği saptandı. Bu hastaların tümünde demir eksikliği anemisinin tedaviye dirençli seyrettiği öğrenildi. Hastaların 13’üne (%92.9) tanı anına kadar en az bir kez kan trasfüzyonu yapıldığı saptandı. Sonuç: İPH her zaman klasik triad şeklinde izlenmeyebilir. Demir eksikliği anemisi ile birlikte solunumsal bulguları olan ve görüntülemede pulmoner infiltrasyon bulunan hastalarda, tedavilere beklenen yanıt alınamaması veya tekrarlayan ataklar olması durumunda İPH akla gelmelidir., Objective: Idiopathic pulmonary hemosiderosis (IPH) is a rare disease with recurrent hemoptysis, iron deficiency anemia, and pulmonary infiltrates. We aimed to examine the characteristics of patients who had anemia and/or elevation of reticulocyte and were diagnosed with IPH. Material and Methods: 14 patients with a diagnosis of idiopathic pulmonary hemosiderosis who had anemia and/or elevation of reticulocyte at initial presentation were retrospectively analyzed.Results: A total of 14 children were included in the study. Nine (64.3%) were female. The median age at the diagnosis was 60 months (IQR: 42). The median time from onset to diagnosis was 12 months (IQR: 15.5). The median hemoglobin levels were 6.7 g/dL (IQR:4.07). At the time of initial diagnosis, only 5 (35.71%) patients had a classical triad of hemoptysis, iron deficiency anemia, and pulmonary infiltration. Abnormal chest X-ray was detected in 12 (85.7%) of patients at the time of diagnosis. Ten (71.4%) patients were diagnosed with pneumonia at the initial presentation. Iron deficiency anemia was detected in 12 (85.7%) patients before diagnosis and all were resistant to treatment. Thirteen (92.9%) patients had a history of blood transfusion at least once before diagnosis. Conclusion: IPH may not always present with the classical triad. In patients with respiratory findings and pulmonary infiltration with iron deficiency anemia, IPH should be considered in unresponsive patients to treatments or recurrent attacks.

Introduction Recurrent pulmonary infections, wheezing and stridor due to swallowing dysfunction, esophageal dysmotility, gastroesophageal reflux, tracheomalacia and bronchomalacia are frequently seen complications after esophageal atresia and tracheo-esophageal fistula (EA-TEF) surgeries. This study aimed to investigate the frequency and causes of respiratory problems and to evaluate the factors that affect respiratory morbidity in patients who had undergone EA-TEF repair in a tertiary referral center. Methods Preoperative and postoperative records of patients with EA, TEF + EA and isolated EA were examined retrospectively. Accompanied diseases and swallowing dysfunction symptoms were questioned. Bronchoalveolar lavage results were investigated if the patient had flexible bronchoscopy. Results A total of 71 children with EA were included in the study, and seven patients who did not have follow-up after surgery were excluded. 46 of the 64 patients continue regular follow-up visits in our department. Male sex, primary EA repair in another center, EA type C, accompanying genetic anomalies, severe tracheomalacia, late per oral feeding (1 year after surgery), and severe GER were found to cause significantly higher incidence of coughing, recurrent wheezing, recurrent pneumonia, and bronchiectasis despite surgical and medical treatments (p = 0.048, p = 0.045, p = 0.009, p = 0.029, p = 0.025). Conclusion Even if anatomical anomalies are corrected by surgery in patients who underwent EA repair, precautions can be taken for GERD, laryngotracheomalacia, and swallowing dysfunction, and effective pulmonary rehabilitation can be initiated with early multidisciplinary approach before the development of respiratory tract symptoms.

Introduction: Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children with unknown underlying pathophysiology. The prognosis of the disease is extremely different between patients. There is limited study evaluated prognostic factors in IPH. Methods: We performed a multi-center, retrospective study in three tertiary care hospital between 1979-2019. Results: A total of 54 children included to the study. The mean age of onset of symptoms was 62.72 ± 45.8 months. The mean age at diagnosis was 80,2 months. The average time from onset to diagnosis was 18 months. The mean follow-up period was 56.7 months (0.75months to 27years). Patients are categorized into three groups according to treatment response; good, partial, and poor. Thirty-seven patients with long term follow-up or current prognosis information present were included in this grouping. Six of the patients were in a good response group, 18 of the patients were in partial response groups, and 13 of the patients were in the poor response group. There was no significant difference in terms of the age of diagnosis, sex, onset time of symptoms, consequently, initial signs, radiologic findings, and PFT. There was a significant relationship between the presence of hypoxia, transfusion history, ANA positivity, and elevated liver enzyme at the time of initial evaluation and treatment response. Conclusions: We evaluate a large pediatric cohort who were under follow-up for a long time. To the best of our knowledge, this association of hypoxia and ANA positivity and poor prognosis never been reported. This information would be useful for clinicians to decide treatment strategies.

Background Cystic fibrosis, the most prevalent autosomal recessive genetic disease, is caused by mutations in the CFTR gene. The spectrum and frequency of CFTR mutations in Turkish patients show heterogeneity. Methods We investigated CFTR gene mutations in samples from 604 cystic fibrosis patients diagnosed at Hacettepe University, the largest referral CF center in Turkey, by different techniques such as strip assay and direct sequencing. We also analyzed the effects of novel variants and predicted pathogenicity by integrating information from different insilico tools. Results We showed that mutation detection rate increased to 76.7% with direct sequencing of the coding region and exon/intron boundaries. Ten variants were described for the first time. All variants except T788R were reported as pathogenic. Conclusion Characterization of patients with CFTR mutations that occur at very low frequencies is necessary for mutation-based treatments. Population specific genetic screening panels should be designed since none of them are suitable for Turkish patients due to heterogeneous mutation distribution. The preliminary data obtained from in silico results of novel variants will pave the way for functional analysis by using samples obtained from patients. These observations will facilitate the discovery and development of new targeted and personalized therapies.

As coronavirus disease 2019 (COVID-19) spreads across the world, the ongoing clinical trials are leading to a big race worldwide to develop a treatment that will help control the pandemic. Unfortunately, COVID-19 does not have any known effective treatment with reliable study results yet. In this pandemic, there is not a lot of time to develop a new specific agent because of the rapid spread of the disease. The process of developing a vaccine is long and requires hard work. Although the pathophysiology of the disease is not fully understood, some of the proposed treatment alternatives are based on old evidence and some have been used with the idea that they might work owing to their mechanism of action. The efficacy, reliability, and safety of the currently available treatment alternatives are therefore a matter of debate. Currently, the main therapies used in the treatment of COVID-19 are antiviral drugs and chloroquine/hydroxychloroquine. Other proposed options include tocilizumab, convalescent plasma, and steroids, but the mainstay of the treatment in intensive care units remains supportive therapies. WOS:000600070300012 2-s2.0-85103141655

INTRODUCTION Hypothalamic obesity (HO) is a type of obesity that is caused by hypothalamic damage. HO can be complicated by obstructive sleep apnea syndrome (OSAS) due to anatomical narrowing of the upper airway and hypothalamic damage-induced dysfunction of the sleep control mechanisms. We aimed to explore the presence and severity of OSAS in children with HO and hypothesized that OSAS is more severe and frequent in HO than exogenous obesity (EO). METHODS This cross-sectional study was conducted among children aged 6.6-17.9 years. Subjects with HO (n = 14) and controls with EO (n = 19) were consecutively recruited through an endocrinology clinic. All patients underwent full-night polysomnography. The primary outcomes were obstructive apnea-hypopnea index (OAHI) and the severity of OSAS. We analyzed the polysomnography findings, biochemical parameters, Brodsky and modified Mallampati scores, and blood pressure compared with the controls. We explored the different obesity types and these variables in association with OAHI using multiple linear regression (MLR). RESULTS Age and body mass index z scores (BMI-z) were similar between the EO and HO groups. The OAHI of HO (5.8) was higher than that of EO (2.2). In MLR, the predicted OAHI was formulated as an equation using regression coefficients of obesity type (HO), age, and BMI-z (R2 = .41). In the logistic regression analysis, the odds ratio of moderate/severe OSA was 5.6 for HO. CONCLUSIONS Children with HO have a higher risk of moderate/severe OSAS than children with EO. Polysomnography should be considered in all patients with HO.

BACKGROUND Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency. CASE Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens-Johnson syndrome, which has been previously reported in only a few cases in the literature. CONCLUSION Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome.

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease. There is no definitive treatment available. Case; A 13-year-old male with no remarkable medical history presented with a sore throat. Chest X-ray performed because of prolonged symptoms. He referred to pediatric pulmonology department because of the reticulonodular opacities in X-ray. Physical examination was normal and no clinical complaints. X-ray revealed reticulonodular opacities that had a greater distribution in the middle and lower lung zones. PFT showed a mild restrictive pattern. CT images were consistent with interstitial lung disease. The patient underwent open lung biopsy, and histopathologic analysis results confirmed a diagnosis of pulmonary alveolar microlithiasis. The patient started disodium etidronate treatment. Sandstorm-like appearance on chest x-ray decrease and restrictive pattern in PFT improved after three months of treatment. There was no significant change in parenchymal findings on CT. In follow up concomitant thoracic CT and MRG performed. However, the micronodular pattern observed in CT was not present in MRG. Conclusion: There is no known effective treatment for PAM. Number of the report describes the beneficial effects of long-term treatment with disodium etidronate but in a certain case, it seems ineffective. Our patient’s chest X-ray and PFT improved after three months of disodium etidronate treatment. However, there was no major change in CT. It is possible to observe parenchymal improvement in long term treatment. CT is a major tool for the detection and follows up the patients. We performed thoracic MRG in follow up however the parenchymal patterns of PAM could not be detected in MRG.

Background and Aim: Lung involvement in LCH is the most characteristic finding for adults, in whom smoking is a key etiological factor. In pediatric cases, it is seen less frequently. Here we present two cases with LCH and severe lung involvement Cases: Case 1 is 4-year-old boy admitted with submandibular lymphadenopathy, chest pain and chest X-ray showed bilateral pneumothorax. Chest CT revealed out cystic lesions. Salivary gland excisional biopsy was performed. Pathological findings were diagnostic for LCH. Chemotherapy regimen (prednisolone, vinblastine) were started. Skull X-ray showed osteolytic lesions. The patient’s respiratory condition did not improve and considering the recurrence of bilateral pneumothorax, it’s decided to perform thoracoscopic pleurodesis. The patient didn’t benefit from this procedure. In addition to pneumothorax, pneumomediastinum, ARDS were developed. Veno-venous ECMO procedure is used, but the patient didn’t respond to treatment and died 20 days later. Case 2 is 3-month-old female admitted to our hospital due to respiratory distress. She had erythematous papules and vesicular lesions beginning after 2 month-old. Ten days ago she developed poor feeding, irritability, increased respiratory rate. Emphysematous appearance was seen on chest X-ray and referred to our hospital. LCH was diagnosed based on pleural biopsy and positive BRAF mutation was resulted. Chemotherapy regimen was started Conclusion: The most prominent feature of these two patients was severe respiratory involvement at the time of diagnosis. It should be kept in mind that lung involvement may be the first finding in patients with LCH and can appear in very young ages. BRAF mutation should be investigated in severe cases with LCH.

Background Inflammatory periodontal diseases are caused by interaction between gram negative, anaerobic bacteria and host response. Persistent infection of Pseudomonas aeruginosa in cystic fibrosis (CF) patients also cause increased pro-inflammatory response and the imbalance of pro- and anti-inflammatory response in brochoalveolar lavage fluid which leads to destruction of lungs. The aim of this study is to evaluate periodontal status of CF patients, to measure level of cytokines and biochemical molecules in gingival crevicular fluid (GCF), and to detect presence of P. aeruginosa in dental plaque samples. Materials and methods GCF samples were collected from 41 CF patients and 39 healthy (non-CF) subjects. Interleukin (IL)-1s, IL-17, IL-10, human neutrophil elastase (HNE), cystic fibrosis transmembrane regulator (CFTR) protein, and human β-defensin-1 (HBD1) in GCF were evaluated by ELISA method. Dental plaque samples were collected from 18 CF patients with history of P. aeruginosa colonization and 15 non-CF subjects. Presence of P. aeruginosa was evaluated by using conventional culture methods and molecular methods. Results Levels of IL-1s, HNE, and HBD1 in CF patients were significantly higher than non-CF subjects. However, IL-10 level was significantly lower in CF patients. Increased pro-inflammatory (IL-1s) and decreased anti-inflammatory (IL-10) cytokine levels were observed in GCF samples from CF patients, irrespective of their periodontal status. P. aeruginosa were detected in four samples of 18 CF patients, and all were negative in non-CF group. Conclusions As a result of this study, CF coexists increasing pro-inflammatory and decreasing anti-inflammatory response locally. Due to increasing pro-inflammation, CF patients should be followed-up more often than non-CF children.

Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by ciliary dysfunction. Patients may present with respiratory distress during neonatal period; chronic sinopulmonary disease, bronchiectasis, recurrent otitis media, sinusitis and infertility in later periods. About 50% of PCD patients have situs inversus totalis and 6-12% have situs ambiguous known as heterotaxy syndromes. Herein, we present a case of PCD and accompanying situs inversus who had acute abdominal pain and was diagnosed with torsion of one of the multiple spleens. Evaluation of acute abdominal pain in these patients has great importance since the internal organs are not at their typical locations.

Background and objectives Patients with cystic fibrosis (CF) have a varying spectrum of clinically significant Aspergillus disease in addition to allergic bronchopulmonary aspergillosis (ABPA). Here we aimed to review the different clinical phenotypes related with Aspergillus growth on the airway culture of patients with CF, we also aimed to investigate the effect of Aspergillus growth on lung function tests. Method The medical records of 100 patients with CF who had Aspergillus growth on airway culture within the period of April 2001 and June 2016 were retrospectively analyzed. Age, gender, symptoms, physical examination findings, pulmonary function tests, the diagnosis of ABPA, and airway culture results were recorded for every visit. Patients with Aspergillus growth on airway cultures were classified into different groups as ABPA, Aspergillus sensitization, Aspergillus colonization and Aspergillus bronchitis. Results Medical records of 83 patients and 147 sputum cultures were attained from 100 patients. The mean age of the patients was 17.6±7.6 years and the mean age of the first Aspergillus growth in sputum culture was 12.5±6.7 years. At first isolation, Aspergillus fumigatus SC was the most common Aspergillus SC in sputum (76.3%) and 14.5% of these patients required hospitalization. Aspergillus sensitization was diagnosed in 3.6% (n= 3) of the patients. Aspergillus colonization was diagnosed in 18.1% (n= 15) of all patients and led to a decline in FEV1%, FVC% and FEF25-75% which was not statistically significant, furthermore. ABPA was detected in 9.6% (n= 8) of all patients and led to a statistically significant decline in FEV1% (p= 0.02); nonsignificant decline in FVC% and FEF25-75%. Aspergillus bronchitis was detected in 43.4% (n= 36) of all patients and led to nonsignificant decline in FEV1%, FVC% and FEF25-75%. Conclusion ABPA is recognized as the most common Aspergillus associated disorder in CF patients and is related to deteriorated pulmonary function tests; however Aspergillus colonization and bronchitis may also be associated with worsening lung function.

Background Takayasu arteritis (TA) is an idiopathic chronic inflammatory arteritis that affects the large blood vessels. Pulmonary involvement was considered an uncommon manifestation of the disease and spontaneous pneumothorax has not been previously described in association with TA. Case We report a 13-year-old female who had TA complicated by spontaneous pneumothorax during treatment. She was admitted to the hospital reporting difficulty standing from a squatting position and inability to walk without support. She had been diagnosed with dilate cardiomyopathy four years ago and cardiac functions had deteriorated over time. Catheter angiography revealed diffuse narrowing of the abdominal aorta. In magnetic resonance angiography, total-subtotal occlusion of the infrarenal abdominal aorta in a 2 cm area and subtotal occlusion of the left renal artery were detected without pulmonary artery involvement. Methotrexate, azathioprine, and prednisolone were administered. Tension pneumothorax developed on the left side while she was on prednisolone treatment. Conclusion To our knowledge, this is the first case of spontaneous pneumothorax associated with TA to be reported in the literature.

Purpose: Mucociliary clearance is impaired in primary ciliary dyskinesia (PCD) and mucus composition is altered in cystic fibrosis (CF) with CFTR impairment. Although the clinical course is very similar in both, pulmonary disease has a better prognosis in PCD. We investigated ceramide (C) and sphingomyelin (SM) levels in pediatric PCD and CF patients. Methods: Plasma samples were obtained from CF (n=19) and PCD patients (n=7) at exacerbation, discharge and control (first month after discharge). SM16, SM18, SM24, C16, C18, C20, C22 and C24 levels were measured by LC-MS/MS. Data were compared with healthy children (n=17) of similar age. Results: All SM and C levels measured at exacerbation were higher in PCD than CF (p Conclusion: There was a dramatic difference in the plasma levels of most C and SM species between PCD and CF patients compared to healthy children. The cilia pathology in PCD and CFTR mutation in CF seem to alter sphingolipid metabolism possibly in different directions. New studies may shed light on the association between increased plasma C and SM to PCD pathogenesis.

Introduction: Recurrent pulmonary infections, wheezing and stridor due to swallowing dysfunction, esophageal dysmotility, gastroesophageal reflux, tracheomalacia and bronchomalacia are frequently seen complications after esophageal atresia and tracheo-oesophageal fistula (EA-TEF) surgeries. Methods: Physical examination and clinical findings, frequency of lower respiratory tract infection, chest wall deformity, mechanical ventilator therapy and tracheostomy patients underwent surgery for EA-TEF were noted. Chest X-ray, computerized thorax tomography (CT), and respiratory function test results were studied. Results: The data of 43 patients who underwent surgery for EA-TEF and referred to department of pediatric pulmonology (DPP)were reviewed. The mean age of the patients was 2 years (0-4 years) and the ratio of female to male was 1.2 / 1. Twenty-six patients underwent swallowing test, and 16(%59)patients had normal swallowing physiology, 9(34%) patients had esophageal dysmotility, and 12(46%) patients had gastroesophageal reflux and 2 patients were followed by non-oral feeding. Cough was observed in 26(60%), wheezing in 14(32%), and recurrent lung infection in 10(23%) patients. On chest radiographs, chronic changes due to the surgery and infections were detected in 24 (55%), consolidation in 6(14%) and atelectasis in 5(11%) patients. Eight patients underwent flexible bronchoscopy due to atelectasis and recurrent lung infection. There were tracheomalacia in 4 patients, bronchomalacia in 1 patient and 1 patient diagnosed with re-fistulisation. Conclusions: Close follow-up and multidisciplinary approach is recommended in children with EA-TEF, even after corrective surgery

Aim: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous trait and nearly 32 genes associated with this disease thus far. Recent technologies can detect approximately 60% of biallelic PCD mutations.However, whole-exome sequencing(WES) provides the opportunity for the (Genetically) undiagnosed PCD patients and describe both candidate genes and novel mutations. Here we aimed to reveal the underlying genetic risk variants of PCD patients with WES. Methods: WES was performed in 10 individuals with a history of PCD and who had a sibling with the diagnosis of PCD. Allele frequency and in-house database information with homozygosity approach was used for variant filtering. Lung Diseases NGS Panel which contains 180 known and candidate genes was also utilised. Results: Bioinformatic analysis ended up with 10 different homozygous variants which include INDEL, missense and nonsense alterations in both known and candidate PCD genes. Mutation analysis showed all affected siblings are homozygous for indicated variants. Variants identified by whole exome sequencing were also confirmed and the inheritence in families showed by Sanger sequencing. We detected novel and previously reported mutations in CCDC40, CCNO, DNAH5, DNAH9 and RSPH4A which are related to PCD. Our findings also suggest three candidate genes that were not reported in PCD patients so far. Conclusion: Diagnosis of patients with the detection of both disease associated and novel mutations is an important approach. These findings will guide to genotype-phenotype correlation and population based genetic studies of Turkish PCD patients in future.

Introduction: Pseudo-Bartter syndrome (PBS) is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome. We reviewed the clinical and laboratory features and treatment approaches of 52 children with Cystic Fibrosis (CF) and PBS who evaluated by our institution from 2007 to 2016. Forty-five of these patients continued to follow-up in our clinic. Results: A total of 52 patients with PBS were identified. The median age of the first attack was 2 (1-39) months. Twenty-six (50%) of 52 patients were diagnosed as PBS at the time of the first diagnosis of CF and 26 (50%) patients developed PBS during their follow-up. The median follow-up period was 34.5 months. The episodes of PBS occurred during summer in 17 (35.4%) patients and during winter in 17 (35.4%) patients. Mean pH and bicarbonate values at first attack were 7.54±0.06 and 37.21±7.19 mmol/L on the blood gas analysis. Mean sodium, potassium, chloride, urea and creatinine levels were 128±5.3 meq/L, 3.33±0.6 meq/L, 79.28±12.6 meq/L, 14.83±10.96 mg/dL, and 0.33±0.18 mg/dL. Twenty-three (51.1%) patients had recurrent episodes of PBS. The total number of attack was 81 in 45 patients who were continued to be followed-up in our institution. As an initial symptom, exacerbation of cough was significantly higher in group with recurrent attacks. Other clinical features like failure to thrive, dehydration status and liver disease did not differ significantly between patients who had recurrent attacks and others. Conclusion: Sometimes PBS may be the initial presentation of the disease. According to our results, almost half of the patients experience recurrent attacks. Therefore close follow-up of the CF patients with PBS attacks is vital.

Sleep-related breathing disorders are common in patients with Down syndrome. For this reason, polysomnography (PSG) start to perform more frequently. The objective of this study is to assess the sleep-related respiratory disorders in children with Down syndrome at Hacettepe University. Methods: An observational descriptive study was conducted on children with Down syndrome who underwent polysomnography (PSG) at Hacettepe University, from May 2016 to January 2019. Data were extracted from official PSG reports. Results: The study included 42 children, 60% of whom were male. Obstructive sleep apnea (OSA) was present in 97.6% of children in which 28.5% of them had severe OSA. Only one patient’s PSG result was normal. Central sleep apnea also was evident in 69%. The mean minimal oxygen saturation reached during events was 84% (min: 62- max: 93). Snoring was evident in 48% of children. The median body mass indexes were 17.28 ± 4.7. The mean AHI was 21.25 (min: 0- max: 202). The mean AHI was 37.3 (min0-max: 228) during REM, and the mean AHI was 17 (min: 0-219) during non-REM. The mean arousal index was 7.16 (min: 0.2-Max: 28.3). The mean desaturation index was found to be 4.2±11.3. CPAP/BIPAP support was recommended in 27 (64.2%) patients after PSG Conclusions: In this study, it has been shown that sleep-related respiratory disorders were seen as very common in children with Down syndrome. Most of the patients were given respiratory support after PSG. In addition, the majority of the families were not described any clinical signs of suspicion of sleep disturbance. Not only obstructive apnea but also central apnea observed in a significant number of patients.

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease. It is characterized by the accumulation of calculi called microliths. There is no definitive treatment. Disodium etidronate has been administered due to its alleged calcium phosphate precipitation-reducing effect; however, its effectiveness is controversial. Case; A 13-year-old male referred because of the reticulonodular opacities in chest X-ray detected during evaluation for upper respiratory tract infection. Pulmonary function test results showed a mild restrictive pattern. Findings on computed tomographic (CT) images were consistent with interstitial lung disease. Open lung biopsy confirmed a diagnosis of PAM. The patient started disodium etidronate treatment. Sandstorm-like appearance on chest x-ray decrease and restrictive pattern in pulmonary function test improved after six months of treatment. There was no significant change in CT. After cessation of treatment, the patient remains stable clinically. His asymptomatic sister also screened and similar mutation in SLC34A2 detected. However, because of his sister asymptomatic and younger, she is followed without treatment and remained stable clinically. Conclusion: Currently, there is no consensus on the treatment of PAM. The number of the report describes the beneficial effects of long-term treatment with disodium etidronate, but in a certain case, it seems ineffective. Our patient9s chest X-ray and pulmonary function improved after six months of disodium etidronate treatment. However, there was no major change in CT. He remains asymptomatic after discontinuation of treatment. Therefore, the effectiveness of disodium etidronate still remains controversial.

Durmuş G, Boybeyi-Türer Ö, Gharibzadeh-Hizal M, Ekinci S, Kiper N. Meconium periorchitis: An incidentally diagnosed rare entity during inguinal herniorraphy. Turk J Pediatr 2018; 60: 612-614. Meconium periorchitis (MPO) is a rare disorder caused by meconium peritonitis with the leakage of meconium into the scrotal sac through the patent processus vaginalis. MPO may be rarely detected during inguinal hernia repair. The association of MPO with cystic fibrosis is rarely seen. We present a male infant with the complaint of left groin swelling, compatible with reducible inguinal hernia. An herniotomy was carried out and the greenish nodules with calcifications were detected. Histopathological examination was compatible with MPO. Two months later the patient was diagnosed with atypical cystic fibrosis. Clinicians should be aware of MPO presentations and its appearance on the hernia sac to prevent unnecessary orchiectomy.