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Advances in technology in recent years increased the long-term survival rate of patients with chronic respiratory failure. As a result, the number of patients receiving long-term home mechanical ventilation (LTHV) support is increasing worldwide. The most important step in the management of patients with home mechanical ventilation (HMV) is to ensure adequate oxygenation and ventilation. Successful care at home requires the presence of trained caregivers and accessibility to medical devices and a care team. The aims of this study were, to describe the characteristics of children on LTHV in Istanbul, to compare the patients receiving non-invasive ventilation (NIV) and invasive ventilation, and to evaluate the frequency and risk factors of hospital admission in this population.

Multisystem inflammatory syndrome in children (MIS-C) evolves in some pediatric patients following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas acute-COVID-19 severity and outcomes were previously correlated with Notch4 expression on Tregs, here, we show that Tregs in MIS-C were destabilized through a Notch1-dependent mechanism. Genetic analysis revealed that patients with MIS-C had enrichment of rare deleterious variants affecting inflammation and autoimmunity pathways, including dominant-negative mutations in the Notch1 regulators NUMB and NUMBL leading to Notch1 upregulation. Notch1 signaling in Tregs induced CD22, leading to their destabilization in a mTORC1-dependent manner and to the promotion of systemic inflammation. These results identify a Notch1/CD22 signaling axis that disrupts Treg function in MIS-C and point to distinct immune checkpoints controlled by individual Treg Notch receptors that shape the inflammatory outcome in SARS-CoV-2 infection.

Objectives: Primary ciliary dyskinesia (PCD) is a chronic genetic disease that affects the respiratory tract, characterized by different clinical and laboratory features. It has a very difficult diagnosis, and high morbidity. In recent years, with the advances in genetics, the rate of diagnosis has increased considerably. In this study, it was aimed to evaluate the relationship between PCD patients' clinical, radiological and laboratory features and genetic analysis. Methods: The study included 14 children who were diagnosed with PCD between 2015-2019 and underwent exome analysis. Diagnostic ages, body mass indexes (BMI)- Z score, clinical and radiological findings, pulmonary function tests, sputum culture reproduction and gene analysis were evaluated and compared. Results: Six of the patients (43%) were girls and 8 (57%) were boys, and the median age at the time of diagnosis was 9 (min-max: 3-16) years. Genetic analysis revealed pathogenic mutations in DNAH5 (n=4, 29%), DNAH11 (n=2, 14%), RSPH4A (n=2, 14%), CCDC40 (n=2, 14%), DNAH9 (n=1, 7%), HYDIN (n=1, 7%), DNAH1 (n=1, 7%), and ARMC4 (n=1, 7%). Although not statistically significant, it was found that the diagnosis age was lower and the BMI Z-score was lower in CCDC40 mutations. Growth parametres were normal in DNAH5, DNAH11, RSPH4A and ARMC4 pathogenic variants. No significant correlation was found between genetic analysis and clinical features, culture reproduction and pulmonary function tests of the patients. Conclusion: It is thought that more detailed information about the possible clinical features and prognosis of the disease can be obtained by genetic examinations of PCD. However, clinical trials with higher patient numbers are still needed. WOS:000669998900008 34349594

Objective: Few cases of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection have been reported in children compared with the total number of cases in the general population. No pediatric studies (or cases) have evaluated extracorporeal techniques in severe coronavirus disease 2019 (COVID-19) patients. In this article, we aimed to describe the clinical features, treatments, and outcomes of four children with COVID‐19 who were treated with therapeutic plasma exchange (TPE) and continuous renal replacement therapy (CRRT) in our pediatric intensive care unit (PICU). Materials and Methods: The children with COVID 19 pneumonia admitted to the PICUs from March 23, and May 6, 2020 were collected. Demographic data and reason for hospitalization were recorded. Vital and laboratory findings were examined in children with extracorporeal treatments. Results: Noninvasive mechanical ventilation, antiviral and antibacterial therapy, supportive antioxidant treatments were administered for 11 children. Respiratory failure and vital signs were more serious in four patients than in other patients. Therefore, we performed extracorporeal support treatments, TPE and CRRT. The patients showed a rapid clinical response to these treatments. Conclusion: TPE and CRRT can use for severe COVID-19 infection receiving other supportive and medical treatments in children.

Background Cough is an important defense and airway clearance mechanism for removing thick and viscous secretions in cystic fibrosis (CF). The primary aim of this study was to investigate the effect of expiratory muscle training (EMT) on peak cough flow (PCF) and secondly on respiratory muscle functions, functional exercise capacity, and quality of life (QoL) in CF. Methods Thirty patients were randomized as training and sham groups. Both groups were trained with the EMT protocol, which involved twice per day for at least 5 days per week for 6 weeks. The training intensity in the training group was 30% of the maximal expiratory pressure (MEP). In the sham group, it remained at the lowest pressure (5 cmH2 O). The primary outcome was PCF. The secondary outcomes were MEP, maximal inspiratory pressure (MIP), spirometric measures, six-minute walking distance (6MWD), and QoL (Cystic Fibrosis Questionnaire-Revised). Results Twenty-eight patients completed the study. Changes in PCF (p = .041) and MEP (p = .003) were higher in the training group than the sham group. Also, treatment burden (p = .008), digestive symptoms (p = .019), and vitality (p = .042) in QoL were more improved in the training group. MIP (p = .028) and 6MWD (p = .035) changed significantly only in the training group. Spirometric measurements did not change (p > .05). Conclusions The results of the study show that EMT could improve PCF, MEP, treatment burden, digestive symptoms, and vitality domains of QoL in patients with CF. Moreover, MIP and functional exercise capacity improved in the training group with EMT.

Multisystem inflammatory syndrome in children (MIS-C) evolves in some pediatric patients following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas acute-COVID-19 severity and outcome were previously correlated with Notch4 expression on regulatory T (Treg) cells, here we show that the Treg cells in MIS-C are destabilized in association with increased Notch1 expression. Genetic analysis revealed that MIS-C patients were enriched in rare deleterious variant impacting inflammation and autoimmunity pathways, including dominant negative mutations in the Notch1 regulators NUMB and NUMBL. Notch1 signaling in Treg cells induced CD22, leading to their destabilization in an mTORC1 dependent manner and to the promotion of systemic inflammation. These results establish a Notch1-CD22 signaling axis that disrupts Treg cell function in MIS-C and point to distinct immune checkpoints controlled by individual Treg cell Notch receptors that shape the inflammatory outcome in SARS-CoV-2 infection.

(1) Background: We aimed to describe the clinical features and outcomes of coronavirus disease-2019 (COVID-19) in children and late adolescents with inflammatory rheumatic diseases (IRD) and to measure their severity risks by comparing them with healthy children. (2) Methods: Among children and late adolescents found to be severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) positive via polymerase chain reaction (PCR) test, IRD patients with an at least six-months follow-up duration, and healthy children were included in the study. Data were obtained retrospectively. (3) Results: A total of 658 (339 (51.5%) females) (healthy children: 506, IRD patients: 152) subjects were included in the study. While 570 of 658 (86.6%) experienced COVID-19-related symptoms, only 21 (3.19%) required hospitalization with a median duration of 5 (1–30) days. Fever, dry cough, and fatigue were the most common symptoms. None of evaluated subjects died, and all recovered without any significant sequelae. The presence of any IRD was found to increase the risk of both hospitalization (OR: 5.205; 95% CI: 2.003–13.524) and symptomatic infection (OR: 2.579; 95% CI: 1.068–6.228). Furthermore, increasing age was significantly associated with symptomatic infection (OR: 1.051; 95% CI: 1.009–1.095). (4) Conclusions: Our study emphasizes that pediatric rheumatologists should monitor their patients closely for relatively poor COVID-19 outcomes.

Background Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed. Methods In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). Results In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). Conclusions Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.

© 2022 Wiley Periodicals LLC.Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease. Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data. Results: There were 1170 people with CF in 2017 and 1637 in 2019 CF registry. Eight hundred and fourteen people were registered in both 2017 and 2019 of whom z-scores of heights and BMI were significantly higher in 2019 (p = 0.002, p =0.039, respectively). Inhaled hypertonic saline, bronchodilator, and azithromycin usages were significantly higher in 2019 (p =0.001, p = 0.001, p = 0.003, respectively). The percent predicted of forced expiratory volume in 1 sec and forced vital capacity were similar in 2017 and 2019 (88% and 89.5%, p = 0.248 and 84.5% and 87%, p =0.332, respectively). Liver diseases and osteoporosis were significantly higher, and pseudo-Bartter syndrome (PBS) was significantly lower in 2019 (p = 0.011, p = 0.001, p = 0.001, respectively). Conclusions: The z-scores of height and BMI were higher, the use of medications that protect and improve lung functions was higher and incidence of PBS was lower in 2019. It was predicted that registry system increased the care of people with CF regarding their follow-up. The widespread use of national CF registry system across the country may be beneficial for the follow-up of people with CF.

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

Our aim was to identify acute kidney injury (AKI) and subacute kidney injury using both KDIGO criteria and urinary biomarkers in children with mild/moderate COVID-19.This cross-sectional study included 71 children who were hospitalized with a diagnosis of COVID-19 from 3 centers in Istanbul and 75 healthy children. We used a combination of functional (serum creatinine) and damage (NGAL, KIM-1, and IL-18) markers for the definition of AKI and subclinical AKI. Clinical and laboratory features were evaluated as predictors of AKI and subclinical AKI.Patients had significantly higher levels of urinary biomarkers and urine albumin-creatinine ratio than healthy controls (p 0.001). Twelve patients (16.9%) developed AKI based on KDIGO criteria, and 22 patients (31%) had subclinical AKI. AKI group had significantly higher values of neutrophil count on admission than both subclinical AKI and non-AKI groups (p 0.05 for all). Neutrophil count was independently associated with the presence of AKI (p = 0.014).This study reveals that even children with a mild or moderate disease course are at risk for AKI. Association between neutrophil count and AKI may point out the role of inflammation in the development of AKI.The key message of our article is that not only children with severe disease but also children with mild or moderate disease have an increased risk for kidney injury due to COVID-19. Urinary biomarkers enable the diagnosis of a significant number of patients with subclinical AKI in patients without elevation in serum creatinine. Our findings reveal that patients with high neutrophil count may be more prone to develop AKI and should be followed up carefully. We conclude that even children with mild or moderate COVID-19 disease courses should be evaluated for AKI and subclinical AKI, which may improve patient outcomes.

Background Tracheostomy-related morbidity and mortality mainly occur due to decannulation, misplacement, or obstruction of the tube. A standardized training can improve the skills and confidence of the caregivers in tracheostomy care (TC). Objective Our primary aim was to evaluate the efficiency of standardized training program on the knowledge and skills (changing-suctioning the tracheostomy tube) of the participants regarding TC. Materials and Methods Sixty-five caregivers of children with tracheostomy were included. First, participants were evaluated with written test about TC and participated in the practical tests. Then, they were asked to participate in a standardized training session, including theoretical and practical parts. Baseline and postintervention assessments were compared through written and practical tests conducted on the same day. Results A significant improvement was observed in the written test score after the training. The median number of correct answers of the written test including 23 questions increased 26%, from 12 to 18 (p < .001). The median number of correct steps in tracheostomy tube change (from 9 to 16 correct steps out of 16 steps, 44% increase) and suctioning the tracheostomy tube (from 9 to 17 correct steps out of 18 steps, 44% increase) also improved significantly after the training (p < .001, for both). Conclusion Theoretical courses and practical hands-on-training (HOT) courses are highly effective in improving the practices in TC. A standardized training program including HOT should be implemented before discharge from the hospital. Still there is a need to assess the impact of the program on tracheostomy-related complications, morbidity, and mortality in the long term.

Krebs von den Lungen-6 (KL-6) has been described as a promising biomarker in the diagnosis and determining the severity of interstitial lung disease in adults with connective tissue disease. This study was performed to determine whether the serum KL-6 level is useful as a biomarker for detecting the interstitial lung disease (ILD) in pediatric cases of connective tissue disease (CTD). In total, 88 patients [36 patients with systemic juvenile idiopathic arthritis (sJIA), 27 patients with juvenile systemic lupus erythematosus (JSLE), 14 patients with juvenile dermatomyositis (JDM), and 11 patients with juvenile systemic sclerosis (JSSc)] and 68 healthy controls were included in this study. Age, sex, and duration of CTD and ILD (if any) were recorded. Blood samples from all the patients and controls were examined by ELISA. Eleven of the 88 patients with CTD (12.5%) had ILD and all of them were symptomatic. Subgroup analysis indicated that eight patients had JSSc, two had JSLE, and one had systemic JIA. The median serum KL-6 level was 1450.5 U/mL (interquartile range (IQR) 742.9–2603.2) in the CTD with ILD group, 415.9 U/mL (IQR 233.4–748.4) in the CTD without ILD group, and 465.9 U/mL (IQR 273.6–1036) in the control group. KL-6 levels were significantly higher in the CTD with ILD group than the CTD without ILD group and the control group (p = 0.003). At a cut-off of 712.5 U/ml identified by ROC curve, serum KL-6 yielded a sensitivity of 81% and specificity of 72% for CTD with ILD group. There was no significant difference in serum KL-6 level among the disease subgroups (sJIA, JSLE, JSSc, JDM), in either the CTD with ILD group or the CTD without ILD group (p > 0.05). In conclusion, KL-6 is a useful biomarker of CTD with ILD in pediatric patients.

Kilinc, Ayse Ayzit/0000-0002-2879-8910; Kepil, Nuray/0000-0001-5494-6422 WOS:000462160300007 Objective: The aim of the present study was to investigate the frequency of celiac disease (CD) in children with cystic fibrosis (CF). Methods: This prospective study was conducted from October 2015 to March 2017. A total of 71 patients with CF and 73 age- and sex-matched healthy children were included in the study. All groups were evaluated for CD with regard to clinical and laboratory findings. First, total IgA and tissue transglutaminase IgA (tTG IgA) levels were measured. Anti-endomysium IgA antibodies (EMAs) were analyzed for those patients with positive tTG IgA. Gastroduodenoscopy was performed to patients with both positive tTG and EMA IgA. Results: Only 8 (11.2%) patients had tTG IgA positivity, whereas 4 (5.6%) patients had positive EMA. The pathological results were consistent with the Marsh 2 classification score in two patients. In addition to that, HLA-DQ2 is present in those two patients. Those patients were accepted as potential CD. Two patients who were thought to have potential CD were reassessed after 1 year, and celiac screening tests were detected as positive again. Conclusion: Only 2 (2.8%) of 71 patients with CF were diagnosed with potential CD. Our study results showed that there might be an association between CD and CF. Turkish Pediatrics Association This work was supported by the Turkish Pediatrics Association.

Background: Published data on the correlations of bronchoscopy findings with microbiological, radiological, and pulmonary function test results in children with noncystic fibrosis (CF) bronchiectasis (BE) are unavailable. The aims of this study were to evaluate relationships between Bronchoscopic appearance and secretion scoring, microbiological growth, radiological severity level, and pulmonary function tests in patients with non-CF BE. Methods: Children with non-CF BE were identified and collected over a 6-year period. Their medical charts and radiologic and bronchoscopic notes were retrospectively reviewed. Results: The study population consisted of 54 female and 49 male patients with a mean age of 11.7 ± 3.4 years. In the classification according to the bronchoscopic secretion score, Grade I was found in 2, Grade II in 4, Grade III in 9, Grade IV in 17, Grade V in 25, and Grade VI in 46 patients. When evaluated according to the Bhalla scoring system, 45 patients had mild BE, 37 had moderate BE, and 21 had severe BE. Microbial growth was detected in bronchoalveolar lavage fluid from 50 of the patients. Forced expiratory volume in 1 s (FEV(1)) and functional vital capacity decreased with increasing bronchoscopic secretion grade (P = 0.048 and P = 0.04), respectively. The degree of radiological severity increased in parallel with the bronchoscopic secretion score (P = 0.007). However, no relationship was detected between microbiological growth rate and radiological findings (P = 0.403). Conclusions: This study showed that bronchoscopic evaluation and especially scoring of secretions correlate with severe clinical condition, decrease in pulmonary function test, worsening in radiology scores, and increase in microbiological bacterial load in patients. Flexible endoscopic bronchoscopy should be kept in mind in the initial evaluation of non-CF BE patients.

Background The severe acute respiratory syndrome coronavirus‐2 (SARS‐CoV‐2) has been causing a serious epidemic in our country and all over the world since December 2019 and has become a global health problem. The disease caused by the SARS‐CoV‐2 virus has been named as coronavirus disease 19 (COVID‐19). Methods We report on the epidemiological and clinical features of 37 children diagnosed with COVID‐19. Results The median age was 10 years, and 57.1% of the children were male. In addition, 78.3% of the children had histories of contact with adult patients who had been diagnosed with COVID‐19, and 27.0% of our patients had coexisting medical conditions. We found that 40.5% of our patients had mild infection, while 32.4% had moderate infection, and 27.1% had developed severe or critical illness. The most common abnormal laboratory findings in our patients were decreased lymphocytes (45.9%) and increased D‐dimer values (43.2%), while abnormal radiological findings were detected in 56.7% of the children. In addition, 64.8% of the patients had received azithromycin, 59.4% of the patients had received oseltamivir, and hydroxychloroquine was used in combination with azithromycin in 35.1% of the children. Non‐invasive mechanical ventilation was required in 27.0% of the children. Conclusions Although COVID‐ 19 infection is usually mild in childhood, severe clinic can be seen in children with comorbidities or even in children who were previously healthy.

BACKGROUND Prolongation of life expectancy in cystic fibrosis (CF) to the fourth decade makes health-related quality of life (HRQOL) an important issue in this population. This study aims to evaluate the effects of clinical and socio-demographic characteristics of patients on different aspects of HRQOL in a pediatric CF population. We also intend to assess some measures of reliability and validity of the Turkish CF Questionnaire-Revised (CFQ-R) forms. METHODS Fifty-four CF patients and 46 parents / caregivers filled the appropriate CFQ-R forms. Disease severity was evaluated via modified Shwachman-Kulczycki (SK) scores, and additional clinical information was obtained from patient records. RESULTS Forty-three percent (n = 23) of patients were female, the mean age of patients being 13.3 ± 3.96 years. Self- and proxy-reported points showed a strong correlation (Spearman's rho > 0.6) on more observable domains of HRQOL (e.g. physical functioning). No significant difference was found between sexes on any HRQOL domain. When compared between age groups, treatment burden appeared to worsen with age, while social functioning improved. All three forms of the CFQ-R Turkish version showed acceptable internal consistency reliability and convergence with disease severity measures. CONCLUSIONS The CFQ-R showed a fair correlation with the Shwachman-Kulczycki score and the FEV1% value, which makes its longitudinal use possible in clinical practice. It is important to use self-reported evaluations as well as parent / caregiver-reported HRQOL evaluations, especially in young children. More studies are needed to assess the psychometric properties of Turkish CFQ-R forms.

Background: Cough is an important mechanism for secretion clearance in patients with cystic fibrosis. Aim: The primary aim of this study was to investigate the effect of expiratory muscle training (EMT) on cough capacity and secondly on respiratory muscle functions and functional exercise capacity in children and adolescents with cystic fibrosis (CF). Methods: Twenty eight patients with CF were randomized as training and sham groups. Both two groups were trained with EMT protocol that involved twice/day, for at least 5 days/week during 6 weeks. In the training group, the training intensity was 30% of the maximum expiratory pressure (MEP) and according to MEP in every two weeks. In the sham group it remained at the lowest pressure (5 cmH₂O). In the assessment, “peak flow meter” for peak cough flow (PCF), “MEP and maximum inspiratory pressure (MIP) measurements” for respiratory muscle strength, “spirometry” for pulmonary functions, and “six-minute walking test” for functional exercise capacity. Results: PCF and MEP showed greater improvement in the training group compared with sham group (p=0.04, p 0.05). Conclusion: The results of the study show that EMT can use to improve peak cough flow in patients with CF.

ÖzetAmaç: Kistik fibroz dışıbronsektazi (KFDBE) çocuklarda önemli morbiditeye yol açan kronik inflamatuarakciğer hastalığıdır. KFDBE'de alevlenme akciğer fonksiyonlarının kötüyegitmesi ile ilişkilidir. Nötrofil- lenfosit oranı (NLO), trombosit- lenfositoranı (TLO) ve ortalama trombosit hacmi (OTH) gibi bazı laboratuarparametrelerinin çesitli kronik inflamatuar hastalıkları için bir göstergeolduğu öne sürülmüştür. Çalışmamızda, KFDBE’li çocuklardaki akut alevlenmedeNLO, TLO ve OTH ölçümlerinin bir gösterge olarak değerlendirilmesini amaçladık.Gereç ve yöntem: Çalışmada,akut alevlenme ve stabil dönemdeki 55 KFDBE' li hastanın ve 79 sağlıklı kontrolgrubunun NLO, TLO ve OTH değerleri analiz edildi. Bulgular: Çalışma ve kontrolgrubundaki hastaların ortalama yaşları sırasıyla 13,62±3,5 ve 12,72±2,68 yıldı.Çalışma grubunun %64'ü ve kontrol grubunun %54'ü erkekti. Alevlenme dönemindekigrupta beyaz küre sayısı, nötrofil oranı ve NLO değerleri sağlıklı kontrolgrubundan anlamlı olarak yüksekti (p, Purpose: Non- cyctic fibrosis bronchiectasis (non-CFBE) is a chronic inflammatory lung disease which causes significant morbidity in children. Exacerbations in non-CFBE are associated with worsening lung function. Several laboratory parameters such as neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and mean platelet volume (MPV) have been suggested to be as an indicator in various chronic inflammatory diseases. We aimed to asses the value of the NLR, PLR and MPV as markers of acute exacerbation in pediatric patients with non-CFBE.Methods: The NLR, PLR, and MPV values of 55 non-CFBE patients (during exacerbation and stable state periods) and 79 healthy control subjects were analyzed.Results: The mean ages for the patient and control group were 13.62±3.5 and 12.72±2.68 years, respectively. 64% of patients and 54% of control subjects were male. The white blood cell count, absolute neutrophil count, and NLR values were significantly higher in the exacerbation group than in the healthy control group (p

Sismanlar Eyuboglu, Tugba/0000-0001-7284-4999; Dogru, Deniz/0000-0001-9931-9473; Aslan, Ayse Tana/0000-0002-5360-8517; COBANOGLU, NAZAN/0000-0002-3686-2927; ORHAN, FAZIL/0000-0002-4850-932X WOS: 000530442700001 PubMed: 32364312 Background Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population. Methods The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS. Results Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P < .001). There were no differences between the groups in terms of colonization status, mean z-scores of weight, height, BMI, and mean FEV1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS. Conclusion PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF.

BACKGROUND Cystic fibrosis (CF) causes malabsorption of nutrients that exacerbate pulmonary problems. Nutritional interventions can improve pulmonary functions. We aimed to evaluate the effects of nutritional intervention in CF patients with malnutrition, and to determine if there is a correlation between nutritional status and pulmonary functions. METHODS The study included 143 CF patients (67 females) with a mean 2 year follow-up time. Patients' sociodemographic data, presenting symptoms and history were recorded. Height-for-age, weight-for-age, weight-for-length/height (WFL/H), and body mass index (BMI) were calculated in all patients. Patients were grouped as well nourished, mild malnutrition, moderate malnutrition, and severe malnutrition. These four groups were compared in terms of pulmonary function test results, lung infections, and the hospitalization rate. RESULTS Among the patients with a WFL/H or BMI z-scores that decreased, the frequency of lung infection was 74.1% and the hospitalization rate was 40.7%, versus 34% and 12.3%, respectively among the patients with a WFL/H or BMI z-scores that increased. The difference was significant (P = 0.02 and P = 0.01, respectively). The difference in bacterial lung infections differed significantly between the four nutritional status groups (P = 0.002). Patients in the well-nourished group had significantly higher pulmonary function test scores than the other groups. The forced expiratory volume in the first second differed significantly between the patients with and without an increase in the WFL/H or BMI z-scores (P = 0.001). CONCLUSIONS The appropriate nutritional intervention to pediatric CF patients with malnutrition, decrease the frequency of lung infections, and improve respiratory function.

OBJECTIVE The use of tumor necrosis factor inhibitors (anti-TNF) has a risk of activating latent tuberculosis infection (LTBI). This study was performed to investigate LTBI according to tuberculin skin test (TST) size and to determine the frequency of tuberculosis (TB) in bacillus Calmette-Guerin (BCG)-vaccinated children receiving anti-TNF treatment for rheumatological disease. MATERIALS AND METHODS The study consisted of 559 children. Information on demographics, anti-TNF agents, TST size, and isoniazid (INH) prophylaxis was recorded. Patients (n = 254) with TST size ≥5 mm were divided into three groups according to TST size and INH prophylaxis: group 1, TST size 5 to 9 mm and no INH prophylaxis; group 2, TST size 5 to 9 mm with INH prophylaxis; and group 3, TST size ≥10 mm with INH prophylaxis. RESULTS The 559 patients comprised 314 (56.3%) females and 245 (43.6%) males; they had a mean age of 13.1 ± 4.1 years. The mean TST size in all patients was 4.2 ± 4.7 mm. Group 1 consisted of 76 (29.9%) patients, group 2 consisted of 88 (34.6%) patients, and group 3 consisted of 90 (35.4%) patients. The mean TST sizes for the three groups were 6.8 ± 3.1 mm, 7.2 ± 3.2 mm, and 13.9 ± 2.8 mm, respectively. New TB was diagnosed in only two (0.35%) patients. Both of them were in group 3. CONCLUSIONS A TST size of ≥10 mm in BCG-vaccinated children receiving anti-TNF treatment may distinguish children at high risk for reactivation of LTBI.

Harmanci, Koray/0000-0002-8494-648X; Sismanlar Eyuboglu, Tugba/0000-0001-7284-4999; Aslan, Ayse Tana/0000-0002-5360-8517 WOS: 000535323700001 PubMed: 32453906 Background A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs. Methods Data for age and genetic mutations from the Cystic Fibrosis Registry of Turkey collected in 2018 were used to find out the number of patients who are eligible for modulator therapy. Results Of registered 1488 CF patients, genetic analysis was done for 1351. The numbers and percentages of patients and names of the drugs, that the patients are eligible for, are as follows: 122 (9.03%) for ivacaftor, 156 (11.54%) for lumacaftor-ivacaftor, 163 (11.23%) for tezacaftor-ivacaftor, and 57 (4.21%) for elexacaftor-tezacaftor-ivacaftor. Among 1351 genotyped patients total of 313 (23.16%) patients are eligible for currently licensed modulator therapies (55 patients were shared by ivacaftor and tezacaftor-ivacaftor, 108 patients were shared by lumacaftor-ivacaftor and tezacaftor-ivacaftor, and 22 patients were shared by tezacaftor-ivacaftor and elexacaftor-tezacaftor-ivacaftor groups). Conclusions The present study shows that approximately one-fourth of the registered CF patients in Turkey are eligible for modulator drugs. As, frequent mutations that CF patients have in Turkey are different from North American and European CF patients, developing modulator drugs effective for those mutations is necessary. Furthermore, as modulator drugs are very expensive currently, financial support of the government in developing countries like Turkey is noteworthy.

Background and objectives In recent years, long-term azithromycin (AZT) use has been increased in pediatric patients with chronic respiratory tract problems. In this study, we aimed to assess auditory functions in children on long-term AZT therapy. Method The study included 43 patients who received long-term AZT treatment and 27 age-matched, healthy controls. In the study and control groups, ear-nose-throat examination, pure tone audiometry, speech recognition threshold (SRT), speech discrimination score (SDS), uncomfortable loudness level (UCL), acoustic reflex tests, and otoacoustic emission tests were performed. The test results were statistically compared between groups. Results Mean age was 11.3 ± 0.56 years in the study group and 9.3 ± 3.07 years in the control group. The medain hearing examination was 8 months after end of AZT treatment (Ranged: 1–12 months). No significant difference was found in normal- and high-frequency audiogram tests at any frequency between study and control groups. Also, no significant difference was found in distortion product otoacoustic emissions (DPOAE) and transient evoked otoacoustic emissions (TEOAE) tests between groups. Also, there was no significant difference in acoustic reflex, SRT, SDS, and UCL test results between study and control groups. Conclusion This is the first study assessing auditory functions comprehensively in pediatric patients who received long-term AZT therapy. In this study, it was shown that long-term AZT use had no deleterious effect on auditory function tests.

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.

Varicella is a common, highly contagious viral infection of childhood. Varicella is a usually benign and self-limited disease, but it can be complicated by severe bacterial infections, especially in immunocompromised hosts. In this study, we describe a previously healthy 3-months-old infant who was admitted with high fever, cough, and respiratory distress, who had a history of varicella infection three weeks before, with exposure from her adolescent, unvaccinated sister. A lung abscess caused by Staphylococcus aureus complicating the varicella infection was discovered. The patient was aggressively treated with drainage of the abscess and intravenous antibiotics and had a good recovery. Keywords: Varicella, Lung abscess, Infant

Plasminogen deficiency is characterized by fibrin-rich pseudomembrane formation on all mucosal surfaces, particularly the conjunctiva. Respiratory system involvement is common; fibrin often obstructs the upper or lower respiratory tract, causing death. Although many treatments have been applied, no definitive treatment (especially of the respiratory involvement) yet exists. Although excision of tracheobronchial tree membranes affords temporary improvement, this should be performed only for patients in severe respiratory distress; the procedure triggers fibrin redeposition. Here, we share our experience with an 8-year-old plasminogen-deficient female with severe lung involvement; we successfully delivered local tissue plasminogen activator followed by nebulized fresh frozen plasma.

Can, Demet (Balikesir Author), Background Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Methods The data were collected using a data-entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively. Results There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo-Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients. Conclusions Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.

Aim: One of the methods used for the diagnosis of childhood respiratory diseases is flexible fiber optic bronchoscopy (FFB). This diagnostic method allows examination of the nose, pharynx, larynx, and tracheobronchial tree. In this study, we present 2 years of FFB experience and highlight its diagnostic advantages in pediatric medicine. Material and Methods: We retrospectively evaluated 213 FFB procedures that were performed between March 2017 and April 2019. Age, sex, FFB indication, bacterial growth in bronchoalveolar lavage (BAL) analysis, the presence of pathological bronchoscopy findings and complications after bronchoscopy were assessed.Results: Of the 213 patients included in the study, 116 (54%) were female and 97 (46%) were male. The mean age was 4.7 ± 6.32 months. The most common indications for bronchoscopy were abnormal radiological findings (30.5%), stridor (13.6%), and chronic cough (11.3%). In 152 patients (71%), diagnostic and therapeutic findings were obtained after bronchoscopy. Transbronchial biopsy was performed in eight patients for whom the etiology could not be determined; a diagnosis was obtained in five of these patients. Bacterial growth in BAL was detected in 68 patients (32%). Temporary complications developed in 17 patients (7.9%) with the most common complication being coughing during the procedure in 8 patients (3.8%).Conclusion: FFB is an important method that allows visualization of the upper and lower airways. The widespread use of pediatric FFB will enable early and non-invasive diagnosis of many respiratory diseases.

Aim: We evaluated the prevalence of Respiratory syncytial virus (RSV), the rates of hospitalization and intensive care unit (ICU) admission due to RSV infection, the need for mechanical ventilation, and the efficacy of palivizumab prophylaxis in children with congenital heart disease (CHD).Material and Methods: A total of 419 patients under 2 years old who were hospitalized with lower respiratory tract infection (LRTI) were included in this study. Patients were divided into two groups according to the presence of CHD. 241 patients had unstable CHD and 178 patients had no underlying conditions. Palivizumab prophylaxis was administered to 29 of the patients with CHD and RSV infection; 22 of these patients were followed for 1 year.Results: RSV infection was detected in 19.5% of the patients with CHD and in 20% of those without CHD. Among the 241 patients with CHD and LRTIs, the rate and duration of hospitalization for RSV were 14% and 9.9 days, respectively. The rate of admittance to the ICU was 32% and that of mechanical ventilation was 19% in the CHD patients with RSV infection. Of the patients without CHD, 12% were admitted to the ICU and 8% received mechanical ventilation. These rates were significantly higher among the RSV-infected patients with CHD. The rates of hospitalization for RSV before and after palivizumab prophylaxis were 59% and 14%, respectively; the difference was significant. Conclusion: RSV infection is a common cause of mortality and morbidity in patients with CHD; palivizumab prophylaxis is effective in these patients.

Tracheal rupture is rare in childhood, and optimal treatment is not clear. A 14-year-old boy was admitted to a local hospital after sudden loss of consciousness. He underwent endotracheal intubation and was referred to our hospital. The patient's history revealed that he had voluntarily inhaled butane gas. The physical examination was consistent with coma and cardiogenic shock, and the chest radiograph showed pulmonary edema. The patient was admitted to the intensive care unit, and diuretic and inotropic therapy was started. In the third hour of monitoring of the patient under mechanical ventilation, subcutaneous emphysema and pneumothorax at the right hemithorax were observed without deterioration of the vital functions. Thoracic computed tomography scan findings were consistent with tracheal rupture. The patient was monitored conservatively without surgery. On the fifth day of hospitalization, his tube was removed, and he was discharged on the 12th day with a positive prognosis. In this study, a tracheal rupture case after endotracheal intubation is presented in which the patient recovered completely with conservative therapy.

Hipokondroplazi, klinik ve radyolojik olarak akondroplaziye benzer ancak daha hafif bulgularla seyreden bir iskelet displazisi tipidir. İlk olarak 1969 yılında Beals tarafından tanımlanmıştır. Yedi aylık erkek hasta bize solunum sıkıntısı ve kas güçsüzlüğü şikayetiyle başvurdu, solunum yetmezli- ği tespit edilen hasta entübe edilip mekanik ventilatörde izlendi. İskelet displazisi bulguları taşıyan olgumuz klinik ve radyolojik olarak hipokondroplazi tanısı aldı. Hipotonisitesi nedeniyle çekilen beyin MR’ında spinal kord basısı yapan ileri derecede foramen magnum darlığı tespit edildi ve cerrahi olarak dekomprese edildi. Operasyon sonrası ikinci gün ekstübe edildi. Hastamızın mevcut solunum sıkıntısı ve hipotonisitesi spinal kanal darlığına bağlandı. Yayınlarda klinik olarak bulgu veren foramen magnum darlığı akondroplazi ile birlikte sık bildirilirken, hipokondroplazi ile birlikte bildirilen vakaya rastlamadık. Bu olgu ile solunum sıkıntısı ve/veya hipotonisite ile gelen, iskelet displazisi bulguları olan hastalarda spinal kanal ve foramen magnumun görültülenmesi gerektiğini vurgulamak istedik., Hypochondroplasia was first reported in the English literature by Beals(1969). The features are similar to those of achondroplasia but are less severeand are usually reported not to involve the skull. The foramen magnumand whole spinal canal are reduced in diameter in achondroplasia,but less so in hypochondroplasia. In this study, we present an uniquecase of a seven month old child with hypochondroplasia with symptomaticforamen magnum stenosis which required surgical decompression. This7-month-old child with hypochondroplasia presented with hypotonia andsevere respiratory disabilities, including apneic episodes requiring continuouspositive airway pressure. Magnetic resonance imaging revealedmarked foramen magnum stenosis. Foramen magnum decompressionwas performed. Postoperatively, steady motor improvement has been observedand the patient no longer requires ventilatory support. To the ourknowledge, this is the first report of hypochondroplasia and symptomaticforamen magnum stenosis. In this case we wish to emphasize the necessityof the radiological imaging of foramen magnum and spinal cord for thepatient who has respiratory distress and hypotonia with skeletal dysplasia.

PubMedID: 21859378 Background: In April 2009 a novel strain of human influenza A, identified as H1N1 virus, rapidly spread worldwide, and in early June 2009 the World Health Organization raised the pandemic alert level to phase 6. Herein we present the largest series of children who were hospitalized due to pandemic H1N1 infection in Turkey. Methods: We conducted a retrospective multicentre analysis of case records involving children hospitalized with influenza-like illness, in whom 2009 H1N1 influenza was diagnosed by reverse-transcriptase polymerase chain reaction assay, at 17 different tertiary hospitals. Results: A total of 821 children with 2009 pandemic H1N1 were hospitalized. The majority of admitted children (56.9%) were younger than 5 y of age. Three hundred and seventy-six children (45.8%) had 1 or more pre-existing conditions. Respiratory complications including wheezing, pneumonia, pneumothorax, pneumomediastinum, and hypoxemia were seen in 272 (33.2%) children. Ninety of the patients (11.0%) were admitted or transferred to the paediatric intensive care units (PICU) and 52 (6.3%) received mechanical ventilation. Thirty-five children (4.3%) died. The mortality rate did not differ between age groups. Of the patients who died, 25.7% were healthy before the H1N1 virus infection. However, the death rate was significantly higher in patients with malignancy, chronic neurological disease, immunosuppressive therapy, at least 1 pre-existing condition, and respiratory complications. The most common causes of mortality were pneumonia and sepsis. Conclusions: In Turkey, 2009 H1N1 infection caused high mortality and PICU admission due to severe respiratory illness and complications, especially in children with an underlying condition. © 2011 Informa Healthcare. Ankara Universitesi Medical School, University of Michigan 7Pediatric 5Pediatric Faculty of Medicine, Assiut University From the 1Department of Pediatrics,Ankara University Medical School,Ankara,Turkey,2Department of Pediatric Infection Diseases,Dr.Sami Ulus Maternity and Children Training and Research Hospital,Ankara,Turkey, 3Department of Pediatrics, Republic of Turkey Ministry of Health Ankara Dıs¸kapı Children’s and Research Hospital, Ankara,Turkey, 4Department of Pediatrics, Ondokuz Mayıs University Medical School, Samsun,Turkey, 5Pediatric Infectious Diseases Unit,Dr.Behçet Uz Children’s Hospital,Izmir,Turkey,6Division of Pediatric Infectious Diseases,S¸is¸li Etfal Training and Research Hospital, Istanbul,Turkey, 7Pediatric Infectious Diseases Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine,Ankara,Turkey,8Division of Pediatrics,Adana Numune Research and Training Hospital,Adana, Turkey,9Department of Pediatrics,Gazi University Medical School,Ankara,Turkey,10Department of Pediatrics,Selçuk University Meram Medical Faculty, Konya,Turkey, 11Department of Pediatrics and Pediatric Infectious Diseases, Uludag^ University Medical School, Bursa,Turkey, 12Clinics of Pediatrics,Tepecik Training and Research Hospital, Izmir,Turkey, 13Division of Pediatric Infectious Diseases, Department of Children’s Health and Diseases, Çukurova University Faculty of Medicine,Adana,Turkey,14Department of Pediatrics,Eskis¸ehir Osmangazi University Faculty of Medicine,Eskis¸ehir, Turkey, 15Pediatric Infectious Diseases Unit, Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta,Turkey, 16Department of Pediatrics, Marmara University Medical School, Istanbul,Turkey, 17Department of Pediatrics,Mersin University Medical School,Mersin,Turkey,and 18Department of Biostatistics,Ankara University Medical School, Ankara, Turkey