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Background: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1., Methods: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017-2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors., Results: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p < .001) and mucoid P. aeruginosa colonization (p < .001) were significantly higher in this group (p < .001). Overall mean annual ppFEV1 decline was -0.97% (95% confidence interval [CI] = -0.02 to -1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40-69) two groups (p = .004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26-2.54; p = .01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p = .038) were associated with significant ppFEV1 decline in the whole cohort., Conclusions: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression., (© 2024 Wiley Periodicals LLC.)

Background: The lung clearance index (LCI) is a sensitive lung function index that is used to detect early lung disease changes in children with cystic fibrosis (CF). This study aimed to define the predictive role of baseline LCI, along with other potential factors on the change in forced expiratory volume in one second (FEV1) during one-year follow-up in CF patients who had a percent predicted (pp) FEV1≥80., Methods: LCI was concurrently performed on 57 CF patients who had ppFEV1 ≥80 at month zero. The ppFEV1 decline was evaluated prospectively during the one year follow up. The primary outcome of ppFEV1 decline in the study group in one year was dichotomized according to the median value for the decline in ppFEV1, which was 3.7. The LCI value predicting ppFEV1 decline at the end of one year was calculated with receiver operating characteristic curve analysis. Regression analysis was performed. Furthermore, a decision tree was constructed using classification and regression tree methods to better define the potential effect of confounders on the ppFEV1 decline., Results: The LCI value for predicting ppFEV1 decline >3.7% at the end of one year was 8.2 (area under the curve: 0.80) Multivariable regression analysis showed that the absence of the F508del mutation in at least one allele, LCI >8.2 and initial FEV1 z-score were predictors of a ppFEV1 decline >3.7 (p<0.001). Factors altering ppFEV1 decline>3.7% at the end of one-year evaluated by decision trees were as follows: initial FEV1 z-score, type of CFTR mutation, LCI value and initial weight-for-age z-score., Conclusions: LCI is sensitive for predicting ppFEV1 decline in patients with ppFEV1 ≥80 along with the initial FEV1-z-score and type of CFTR mutation., Competing Interests: The authors declare that there is no conflict of interest.

Purpose: The present study evaluates the effects of the application of Self-Care Deficit Nursing Theory (SCDNT) on the self-care knowledge and skills in adolescents with Cystic Fibrosis., Design and Methods: This randomized controlled study included 30 adolescents who were equally divided into the intervention and control groups. The data were collected by using the Sociodemographic Data Form and the Self-Care Knowledge and Skills Evaluation Forms for Adolescents with Cystic Fibrosis. A total of seven home visits were conducted with the adolescents in the intervention group, during which individualized care plans were applied based on the Self-Care Deficit Nursing Theory. The self-care needs of the adolescents in the control group were identified based on data collected during two home visits conducted at the onset of the study and after 4.5 months., Results: As a result of the application of nursing interventions based on the SCDNT, a statistically significant increase was noted in the self-care knowledge and skills of the adolescents in the intervention group (p < 0.05). Additionally, after the interventions based on SCDNT, the need of adolescents for nursing interventions decreased significantly over time in all adolescents in the intervention group (p < 0.05)., Conclusions: The application of nursing interventions based on the SCDNT was effective in enhancing the self-care knowledge and skills of adolescents with Cystic Fibrosis., Practice Implications: Nurses can benefit from Orem's Self-Care Deficit Nursing Theory in the design and application of the individualized care of adolescents with Cystic Fibrosis to improve their self-care practices., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment., Methods: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment., Results: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased., Conclusions: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide., (© 2023 Wiley Periodicals LLC.)

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

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

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., (© 2020 Wiley Periodicals LLC.)

Purpose: The aim of this study is to examine the effects of self-efficacy, social support and quality of life on readiness for transition to adult care in adolescents with cystic fibrosis., Design and Methods: A descriptive and cross-sectional study design was used. Data were collected from 50 adolescent between 14 and 17 years old with cystic fibrosis, by using The Transition Readiness Assessment Questionnaire, Social Support Appraisals Scale for Children, Self-Efficacy Questionnaire for Children and health-related quality-of-life instrument, the KIDSCREEN-10., Results: A positive correlation was found between the readiness levels of adolescents for transition to adult care and self-efficacy levels. In path analysis, self-efficacy was found to have a significant effect on the level of readiness for transition to adult care. There was not statistically significant relationship between the level of readiness for transition to adult care and health-related quality of life and perceived social support. Path analysis revealed that health-related quality of life and perceived social support had significant effects on the self-efficacy levels of adolescents., Conclusions: Self-efficacy were associated with readiness for the transition to adult care. Although perceived social support and quality of life were not related with transition readiness these variables had significant effects on perceived self-efficacy, which was determined as a factor affecting the readiness for the transition to adult care., Practice Implications: In adolescents with cystic fibrosis, self-efficacy, social support and quality of life levels should be taken into account when planning preparation programs for transition to adult care., Competing Interests: Declaration of Competing Interest None., (Copyright © 2020 Elsevier Inc. All rights reserved.)

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., (Copyright © 2020 Elsevier B.V. All rights reserved.)

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., (© 2020 Wiley Periodicals LLC.)

Background/aim: The patients with cystic fibrosis (CF) are living longer compared to the past, but respiratory failure is still the most common cause of mortality. The aim of this study is to investigate factors associated with severe lung disease in a cohort of adult patients with CF., Materials and Methods: Demographic data, clinical and laboratory findings of the patients aged 18 years and more were collected and the patients were grouped according to forced expiratory volume in 1 s (FEV1) as severe group: <40% and nonsevere ≥40%. Associations were investigated between groups and clinical outcomes., Results: A total of 76 patients were enrolled in the study. The mean age was 24.5 ± 5.25 years and 36 (47.4%) patients were female. In the severe group; the mean age was higher (27.1 ± 6.0 vs 23.6 ± 4.7, P = 0.013), the median Chrispin-Norman score of severe lung disease group was higher (14 (6–22) vs 5.5 (0–20), P < 0.001), hospitalization at least once in a year for intravenous antibiotic was more common (12/18 (66%) vs 19/58 (32%), P = 0.014). There was a positive correlation between body mass index (BMI) and lung function, indicating that lower nutritional status was related to lower FEV1, r2 = 0.21, P < 0.001. The median FEV1% was lower in patients with CF-related diabetes (38 (14–95) vs 66 (13–121), P = 0.042). Dornase alpha use and physiotherapy rate were higher in severe lung disease group (P = 0.008 and P < 0.001, respectively)., Conclusion: Lower BMI, older age, presence of CF-related diabetes, higher radiologic scores, use of dornase alpha and physiotherapy and higher hospitalization rate for intravenous antibiotic therapy are significantly associated with severe lung disease., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

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.

Güney E, Emiralioğlu N, Cinel G, Yalçın E, Doğru D, Kiper N, Özçelik HU. Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children. Turk J Pediatr 2019; 61: 20-25. Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by recurrent respiratory tract infections. The measurement of nasal nitric oxide (nNO) is an important test for the diagnosis of PCD. In this study, we aim to evaluate NIOX-MINOÒ, which is an easily applicable method for measuring nNO, in the diagnosis of patients with PCD and define diagnostic cut-off levels. Furthermore, determining the normal limits of nNO in healthy children and investigating nNO levels of children with cystic fibrosis (CF) are the other aims of this study. The children included in this study were 5 to 18.5 years old, 46 of them had PCD, 44 had CF and 200 were healthy children. To our knowledge, this work contains the widest population compared to previous studies. Subjects receiving steroids or antibiotics or those with any acute respiratory tract infection, asthma or allergic rhinitis were not included in the study. Mean nNO levels were found as 10.4, 22.8 and 21.0 ppb in PCD, CF and healthy children, respectively. The nNO levels for PCD patients were found significantly lower than children with CF and the control groups (p < 0.05). In this study, the diagnostic nNO cut-off level between PCD and the other two groups was determined to be < 11.5 ppb with %83.6 specificity and %67.4 sensitivity. The screening of nNO with NIOX-MINO method provides early diagnose before mucosal biopsy of patients who are suspected to have PCD and therefore, prevents co-morbidities and prolongs survival with early treatment.

Sweat test with Gibson Cooke (GC) method is the diagnostic gold standard for cystic fibrosis (CF). Recently, alternative methods have been introduced to simplify both the collection and analysis of sweat samples. Our aim was to compare sweat chloride values obtained by GC method with other sweat test methods in patients diagnosed with CF and whose CF diagnosis had been ruled out. We wanted to determine if the other sweat test methods could reliably identify patients with CF and differentiate them from healthy subjects. Chloride concentration was measured with GC method, chloride meter and sweat test analysis system; also conductivity was determined with sweat test analysis system. Forty eight patients with CF and 82 patients without CF underwent the sweat test, showing median sweat chloride values 98.9 mEq/L with GC method, 101 mmol/L with chloride meter, 87.8 mmol/L with sweat test analysis system. In non-CF group, median sweat chloride values were 16.8 mEq/L with GC method, 10.5 mmol/L with chloride meter, and 15.6 mmol/L with sweat test analysis system. Median conductivity value was 107.3 mmol/L in CF group and 32.1 mmol/L in non CF group. There was a strong positive correlation between GC method and the other sweat test methods with a statistical significance (r=0.85) in all subjects. Sweat chloride concentration and conductivity by other sweat test methods highly correlate with the GC method. We think that the other sweat test equipments can be used as reliably as the classic GC method to diagnose or exclude CF.

Inflammation is a central contributor to the pathogenesis of cystic fibrosis (CF) pulmonary disease; so limiting the excessive production of inflammatory mediators represents a major therapeutic strategy for slowing the decline in lung function and improving survival. The macrolide antibiotic azithromycin (AZM) has anti-inflammatory properties and immunomodulatory effects that may be beneficial in CF. The aim of this study was to document the long term use of AZM effect on pulmonary function, nutritional status and number of pulmonary exacerbations in patients with CF. Twenty four patients with CF aged 4-23 years followed at Hacettepe University Department of Pediatric Pulmonology between May 2007- December 2014 enrolled in the study from 630 CF patients. They received 10 mg/kg/day of AZM three times a week. Pulmonary function parameters, sputum cultures, body mass index (BMI) Z scores and number of pulmonary exacerbations were analyzed at different time intervals (at the visits at months 6, 9 and 12). Median age of the patients was 14.7 (range 4-23 years) years and median treatment duration was 14 months (range 6-60 months). Initially, median FEV1% was found 68% (range 30%-100%), BMI was found 17.05 (range 13.3-26.5) and oxygen saturation was found 95% (range 84%-99%). At the end of the 6th, 9th and 12th months of the AZM therapy; no significant differences in FEV1% and oxygen saturation parameters were found compared to the initial time, however BMI increased significantly (p=0.03), also the number of pulmonary exacerbations (p < 0.001) and severe exacerbations (p < 0.001) needing intravenous antibiotic treatment were significantly reduced at the 6th and 12th month. At the end of the 12th month of AZM; Methicillin sensitive S. aureus (MSSA) colonization was significantly increased (p=0.005) and increased macrolide resistance was detected (p=0.008). Although, this study could not be designed as a placebo controlled study, the results showed that at least 6 months of AZM treatment led to a significiant reduction in the number of pulmonary exacerbations requiring antibiotics and improvement on nutritional status. Despite increased P. aeruginosa antibiotic resistance and MSSA colonization rates, the lower incidence of acute exacerbations in patients receiving AZM is an important and clinically relevant measure of beneficial effect. Therefore, long term use of AZM may be considered to slow pulmonary deterioration in CF patients with P. aeruginosa colonization.

In cystic fibrosis (CF), if Pseudomonas aeruginosa (Pa) infection is not diagnosed and treated early, chronic colonization occurs, which causes rapid decline in pulmonary functions. The aim of this study was to evaluate Pa antibodies, compare them with Pa cultures and determine their role in early diagnosis and follow-up. Ninety CF patients were included; they were divided into chronic, intermittent, negative, and mucoid groups. They were evaluated every 3-6 months. In each visit, pulmonary function tests and sputum cultures were obtained, and Pa antibodies exotoxin A (ExoA), elastase (ELA) and alkaline protease (AP) were determined in the serum by enzyme-linked immunosorbent assay (ELISA). The most specific test that discriminated chronic colonized patients from noncolonized patients was Pa culture, and the presence of at least one antibody had the highest sensitivity. AP had the highest specificity, and ELA had the highest sensitivity. All antibodies were highest in the mucoid group. ELA was highest in chronic and lowest in the negative group. The presence of antibodies was much higher than positive Pa cultures in patients younger than five years of age. A negative correlation between forced expiratory volume in 1 second (FEV1) and AP was determined only in the mucoid group. In the two-year follow-up, antibody presence did not show a regular pattern. In CF, Pa antibodies can be early markers for diagnosis, especially in young children who cannot expectorate, but they should only be used together with sputum cultures for long-term follow-up and treatment.

Although sweat conductivity values are well matched with chloride concentrations for cystic fibrosis (CF) diagnosis, sweat conductivity is not accepted as a definitive diagnostic tool but only a screening method. The aim of this study was to compare the sweat chloride measurements and sweat conductivity values of our patients, and to determine cut-off values of conductivity for making or excluding a CF diagnosis. Fifty-nine CF patients, 10 patients with elevated sweat tests and 69 non-CF patients were included in the study. The mean conductivity values were 123 (64-157) mmol/L, 75.1 (60-93) mmol/L and 39 (18-83) mmol/L in the CF, elevated sweat test and control groups, respectively. The mean chloride concentration values were 107.5 (35-166) mEq/L, 48 (42-76) mEq/L and 25 (11-39) mEq/L in the CF, elevated sweat test and control groups, respectively. Spearman correlation test determined a strong correlation between conductivity and chloride concentration values (r=88%, p<0.001) in all subjects. According to the receiver operating characteristic (ROC) curve graph, the best conductivity cut-off value to make the CF diagnosis was found to be 90 mmol/L and to exclude the CF diagnosis was 70 mmol/L. We suggest that the conductivity measurement is as reliable as quantitative sweat chloride analysis to diagnose or exclude CF, and it can be used as a diagnostic test in addition to screening.

We investigated the presence of anti-neutrophil cytoplasmic antibodies (ANCA) in the serum and bronchoalveolar lavage fluid (BALF) of 21 cystic fibrosis (CF), 7 idiopathic bronchiectasis (IBR), and 11 control children and the relation between ANCA and any bacteria grown in BALF. Six of the CFs, but none of the IBRs or controls had positive serum cytoplasmic or perinuclear-ANCA (c-ANCA, p-ANCA). Serum autoantibodies against bactericidal/permeability increasing protein (BPI-ANCA) were positive in 2 CFs, 1 IBR and 1 control. While none of the CFs, IBRs or controls had positive BALF (c- or p-ANCA), 1 CF, 1 IBR and none of the controls had positive BALF BPI-ANCA. Pseudomonas aeruginosa was not grown in the specimens of any of the subjects. As the number of the patients in our study was very limited, further longitudinal and well-designed studies are necessary to show whether or not the presence of ANCA in serum or BALF relates to the presence of P. aeruginosa infection in the airways of CF and IBR patients.

Background and Aims: Although apoptotic dysfunction has recently been suggested in cystic fibrosis (CF), there are few studies reported concerning apoptosis in CF with controversial results. The aim of this study was to investigate apoptosis in CF human lung tissues and compare with non-CF bronchiectatic and normal healthy lung tissues. We also investigated the relation between apoptosis and histopathological features of tissues and microbiological factors influencing apoptosis., Methods: Lung tissue samples from CF (n=30), non-CF bronchiectasis (n=28, BE group) and normal control cases (n=24, C group) were included in the study. Histological examination of H & E-stained archived slides was performed and TUNEL method was used to detect DNA fragmentation., Results: Apoptotic alveolar epithelial cells were significantly increased in the CF group compared to BE and C groups (p=0.046). Bronchopneumonia (BP) was present in 15 CF cases (50%), whereas none of the cases in C group had BP (p=0.0001). Apoptosis was significantly increased in cases with BP (n=17) compared to cases without BP (n=65) (p=0.04)., Conclusions: Apoptotic epithelial cells and BP were significantly increased in the CF group and excess level of apoptosis may be the result of enhanced occurrence of BP. Apoptotic cells were alveolar epithelial cells in the great majority of the patients and were not detected in other locations where CFTR expression is much more prominent than alveolar cells. We may postulate that increased apoptotic findings in the alveolar epithelium were related with the presence of chronic infections rather than CFTR dysfunction., (2009 IMSS. Published by Elsevier Inc.)

Macrolides have antiinflammatory effects that are potentially useful in cystic fibrosis (CF). In this placebo-controlled, randomized, double-blind crossover study, 18 CF patients were randomized to receive either clarithromycin (CM) (Group 1) or placebo (Group 2) for three months. After 15 days, the treatments were crossed over. Bronchoalveolar lavage (BAL) was obtained in the beginning and at the end of each treatment period. There was no significant difference in median cell counts and median cytokine levels at baseline, after CM use and after placebo use between the two groups. In Group 2, the median neutrophil elastase (NE) level decreased with CM. Patients had less acute pulmonary exacerbations and median clinical score decreased with CM in both groups. Median z-scores for weight increased with CM in Group 2. We could not demonstrate a fall in proinflammatory cytokines in BAL; however, some improvement in clinical status could be shown with three-month CM.

Hematologic malignancies including acute leukemias rarely associate with cystic fibrosis (CF). In this paper, we describe a case who was diagnosed with CF when she was three months old and presented with acute myelogenous leukemia (AML) at the age of 17 years. Although she received reduced doses of chemotherapy because of her clinical status she responded well. She is the first CF patient who developed AML in our department among 296 CF patients over a 22-year period.

We report a 16-year-old boy with cystic fibrosis presenting with meconium ileus in the neonatal period who showed mild clinical phenotype later. He had sufficient pancreatic function, mild lung involvement and borderline sweat chloride levels. Analysis of the cystic fibrosis transmembrane regulator protein gene revealed the rare mutation: 2183AA-G/D1152H. To our knowledge, this is the first report concerning such a mutation combination in cystic fibrosis.

Infants with cystic fibrosis can develop episodes of hyponatremic, hypochloremic dehydration with metabolic alkalosis, and management is difficult. In this paper, we present a nine-month-old case with cystic fibrosis with pseudo-Bartter syndrome, who was rehydrated with two types of modified oral rehydration solution. Intravenous rehydration was impossible due to inaccessibility of route. With this oral rehydration treatment, her purging rate decreased, and serum sodium levels improved and remained stable. In cases with impossible intravenous route, one of these modified rehydration solutions could be given.

In this study, sputum samples collected from cystic fibrosis patients with preliminary diagnosis of pulmonary infection were evaluated for the presence of bacteria belonging to Burkholderia cepacia complex by commercial phenotypic systems and recA polymerase chain reaction (PCR). A total of 85 patients ages between 5-30 years (mean age: 12.8 years) were included to the study with female/male ratio of 44/41. The mostly isolated bacteria from 85 sputum samples were found as Staphylococcus aureus (55.3%), Pseudomonas aeruginosa (48.2%) and Haemophilus influenzae (15.3%), whereas B. cepacia complex was phenotypically identified from two (2.3%) out of the samples. However only one was confirmed by PCR and typed as Burkholderia multivorans by restriction fragment lenght polymorphism method. This study emphasizes the importance of molecular methods as confirmatory tests for accurate identification of B. cepacia complex.

Introduction: Infants with cystic fibrosis (CF) are prone to develop episodes of hyponatraemic, hypochloraemic dehydration with metabolic alkalosis, which are biochemical hallmarks of the pseudo-Bartter syndrome (PB)., Method: We reviewed the clinical and laboratory features and treatment approaches of 29 children with CF and PB who were under follow-up in our institution from May 1992 to November 2003., Results: Of 241 patients with CF, PB was detected in 29 (12%) with a median age of 4 months at the time of the first attack. Most patients experienced vomiting, loss of appetite and dehydration during episodes of PB. All patients were managed with intravenous fluids and sodium chloride solutions. During follow-up, 12/29 cases required hospital admission for recurrent PB attacks. The oldest age at the time of the last attack was 48 months., Conclusions: CF should be considered in the differential diagnosis of metabolic alkalosis in young children. Vomiting and loss of appetite are important warning signs of possible PB in CF patients, particularly before 4 years of age. To prevent serious complications, it is crucial that parents and physicians recognise PB as early as possible.

Background: A unique substance reflecting the degree of inflammation localized to the lower respiratory tract in patients with cystic fibrosis (CF) has been the concern of several investigators and nitric oxide has gained interest for this purpose in the last decades., Objectives: The aim of this study was to evaluate the cytokine and nitrite levels by showing the relationship between them in serum and bronchoalveolar lavage fluid (BALF) of patients with CF and patients in which flexible fiberoptic bronchoscopy (FFB) was applied because of indications other than infection., Methods: 20 children with CF with mean age 8.2 years and 10 children as control group with mean age 4.2 years were included in the study. Cultures for aerobes, anaerobes, fungi and mycobacteria, cell differentials, cytokine and nitrite measurements were made from BALF specimens. White blood cell (WBC) count, erythrocyte sedimentation rate (ESR), quantitative C-reactive protein (QCRP), cytokine and nitrite levels were measured from serum samples., Results: BALF neutrophil, TNF-alpha, IL-8 and nitrite levels were significantly higher in patients with CF than control patients. There was no correlation between serum and BALF cytokine and nitrite levels. However, there was a significantly positive correlation between BALF IL-8 and nitrite levels in patients with CF (r = 0.5) and also in control patients (r = 0.6)., Conclusions: The results suggest that BALF nitrite levels reflect the degree of inflammation localized to lower respiratory tract and may be a useful indicator of airway inflammation for patients with CF.

Nasal potential difference (PD) measurement has been used as a diagnostic test for cystic fibrosis (CF). It has been shown that large differences in reproducibility of nasal PD measurement can exist between different study sites. These differences reduce the validity of studies. In our study we tried to measure nasal PD values for a group of Turkish CF patients by using a computer based data acquisition system, which could eliminate the bias due to using different voltmeters. The CF group (n=40, mean age 9.3 years) value was -39.21+/-1.74 mV, and the control group (n=36, mean age 17.08 years) value was -18.24+/-1.48 mV (mean+/-SEM). Using the electronic data acquisition and analysis systems gave reliable results with high specificity (92%), sensitivity (79%), positive predictive value (95%) and negative predictive value (72%). Computer based data acquisition and analysis system provides suitable monitoring and continuous recording during measurements and facilitates repeat readings at the same distances along the nasal floor. Using electronic data acquisition may help to minimize the subjectivity in voltmeter measurements and hand analysis.

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

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

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We report a 16-year-old boy with cystic fibrosis presenting with meconium ileus in the neonatal period who showed mild clinical phenotype later. He had sufficient pancreatic function, mild lung involvement and borderline sweat chloride levels. Analysis of the cystic fibrosis transmembrane regulator protein gene revealed the rare mutation: 2183AA-G/D1152H. To our knowledge, this is the first report concerning such a mutation combination in cystic fibrosis. [ABSTRACT FROM AUTHOR]