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  1. Home
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Browsing by Author "Çokugras, H"

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    Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war
    Yilmaz, AI; Pekcan, S; Eyüboglu, TS; Hangül, M; Arslan, H; Kilinç, AA; Çokugras, H; Arik, E; Keskin, Ö; Özdemir, A; Ersoy, M; Ersoy, A; Köse, M; Özsezen, B; Ünal, G; Ercan, Ö; Girit, S; Oksay, SC; Gökdemir, Y; Karadag, B; Sen, V; Çakir, E; Yüksel, H; Tekin, MN; Aslan, AT
    Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021. The study examined demographic information, age at diagnosis, age of diagnosis of patients through CF newborn screening (NBS), presenting symptoms, CF transmembrane conductance regulator (CFTR) mutation test results, sputum culture results, weight, height, and body mass index (BMI) z score. Their results were compared with the NCFRT results. The study included 14 pediatric pulmonology centers and 87 patients, consisting of 46 (52.9%) boys and 41 (47.1%) girls. All of the patients were Arab refugees, with 80 (92%) being Syrian. All the patients were diagnosed in Turkey. The median age at diagnosis of patients was 22.33 (interquartile range, 1-258) months. The median age of diagnosis of patients through NBS was 4.2 (interquartile range, 1-12) months. The median age of older patients, who were unable to be included in the NBS program, was 32.3 (interquartile range, 3-258) months. Parental consanguinity was observed in 52 (59.7%) patients. The mutation that was most frequently found was F508del, which accounted for 22.2% of the cases. It was present in 20 patients, constituting 32 out of the total 144 alleles. There was a large number of genetic variations. CFTR genotyping could not be conducted for 12 patients. These patients had high sweat tests, and their genetic mutations could not be determined due to a lack of data. Compared to NCFRT, refugee patients were diagnosed later, and long-term follow-up of refugee CF patients had significantly worse nutritional status and pseudomonas colonization. Conclusion: Although refugee CF patients have equal access to NBS programs and CF medications as well as Turkish patients, the median age at diagnosis of patients, the median age of diagnosis of patients through NBS, their nutritional status, and Pseudomonas colonization were significantly worse than Turkish patients, which may be related to the difficulties of living in another country and poor living conditions. The high genetic heterogeneity and rare mutations detected in the refugee patient group compared to Turkish patients. Well-programmed NBS programs, thorough genetic studies, and the enhancement of living conditions for refugee patients in the countries they relocate to can have several advantages such as early detection and improved prognosis.What is Known:center dot Children who have chronic diseases are the group that is most affected by wars.center dot The outcome gets better with early diagnosis and treatment in patients with Cystic Fibrosis (CF).What is New:center dot Through the implementation of a newborn screening program, which has never been done in Syria previously, refugee patients, the majority of whom are Syrians were diagnosed with cystic fibrosis within a duration of 4 months. center dot Despite equal access to the newborn screening program and CF medications for both Turkish patients and refugee patients, the challenges of living in a foreign country have an impact on refugees.
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    A multi-center survey of childhood asthma in Turkey - I: The cost and its determinants
    Beyhun, NE; Soyer, ÖU; Kuyucu, S; Sapan, N; Altintas, DU; Yüksel, H; Anlar, FY; Orhan, F; Cevit, Ö; Çokugras, H; Boz, AB; Yazicioglu, M; Tanaç, R; Sekerel, BE
    Successful management of childhood asthma requires a thorough idea of the economic impact of asthma and its determinants, as policy makers and physicians inevitably influence the outcome. The aim of this study was to define the cost of childhood asthma in Turkey and its determinants. In April 2006, a multi-center, national study was performed where data regarding cost and control levels were collected. Asthmatic children (6-18 yr) with at least a 1-yr follow-up seen during a 1-month period with scheduled or unscheduled visits were included. The survey included a questionnaire-guided interview and retrospective evaluation of files. Cost and its determinants during the last year were analyzed. A total of 618 children from 12 asthma centers were surveyed. The total annual cost of childhood asthma was US$1597.4 +/- 236.2 and there was a significant variation in costs between study centers (p < 0.05). Frequent physician visits [odds ratio (95% confidence intervals)] [2.3 (1.6-3.4)], hospitalization [1.9 (1.1-3.3)], asthma severity [1.6 (1.1-2.8)], and school absenteeism due to asthma [1.5 (1.1-2.1)] were major predictors of total annual costs (p < 0.05 for each). The comparable cost of asthma among Turkish children with that reported in developed countries suggests that interventions to decrease the economic burden of pediatric asthma should focus on the cost-effectiveness of anti-allergic household measures and on improving the control levels of asthma.
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    Evaluation of factors affecting bone mineral density in CF patients through CF registry of Turkey
    Soydas, SSA; Tugcu, GD; Gençoglu, MY; Cinel, G; Emiralioglu, N; Yalçin, E; Kiper, N; Sen,; Altintas, DU; Çokugras, H; Kilinç, AA; Yazan, H; Ünal, G; Yilmaz, A; Çaglar, HT; Damadoglu, E; Irmak, I; Demir, E; Öztürk, GK; Bingöl, A; Basaran, E; Sapan, N; Aslan, AT; Asfuroglu, P; Harmanci, K; Köse, M; Hangül, M; Özdemir, A; Özcan, G; Gayretli, ZG; Keskin, Ö; Yüksel, H; Özdogan, S; Topal, E; Çaltepe, G; Can, D; Ekren, PK; Kiliç, M; Eyüboglu, TS; Pekcan, S; Çobanoglu, N; Çakir, E; Özçelik, U; Dogru, D
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    Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?
    Uytun, S; Cinel, G; Polat, SE; Tabakçi, SO; Kiper, N; Yalçin, E; Tural, DA; Özsezen, B; Sen, V; Sen, HS; Altintas, DU; Çokugras, H; Kilinç, AA; Baskan, AK; Yazan, H; Çollak, A; Uzuner, S; Ünal, G; Yilmaz, AI; Çaglar, HT; Damadoglu, E; Irmak, I; Demir, E; Öztürk, GK; Bingöl, A; Basaran, E; Sapan, N; Canitez, Y; Aslan, AT; Asfuroglu, P; Harmanci, K; Köse, M; Hangül, M; Özdemir, A; Çobanoglu, N; Özcan, G; Keskin, Ö; Yüksel, H; Özdogan, S; Topal, E; Çaltepe, G; Can, D; Ekren, PK; Kiliç, M; Emiralioglu, N; Eyüboglu, TS; Pekcan, S; Çakir, E; Özçelik, U; Dogru, D
    BackgroundCystic 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. MethodsThis 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. ResultsIn 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. ConclusionsPatients 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.
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    Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey
    Çobanoglu, N; Özçelik, U; Çakir, E; Eyüboglu, TS; Pekcan, S; Cinel, G; Yalçin, E; Kiper, N; Emiralioglu, N; Sen, V; Sen, HS; Ercan, Ö; Çokugras, H; Kilinç, AA; Al Shadfan, LM; Yazan, H; Altintas, DU; Karagöz, D; Demir, E; Öztürk, GK; Bingöl, A; Basaran, AE; Sapan, N; Çekiç, S; Celebioglu, E; Aslan, AT; Gürsoy, TR; Tugcu, G; Özdemir, A; Harmanci, K; Yildirim, GK; Köse, M; Hangül, M; Tamay, Z; Süleyman, A; Yüksel, H; Yilmaz, O; Özcan, G; Topal, E; Can, D; Ekren, PK; Çaltepe, G; Kiliç, M; Özdogan, S; Dogru, D
    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.
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    Evaluation of respiratory function at 6 years of age in patients with cystic fibrosis with frequent pulmonary exacerbations in the first 2 years of life
    Tabakci, SO; Cinel, G; Uytun, S; Polat, SE; Yalçin, E; Kiper, N; Erdal, MA; Sen, V; Savas, S; Çelebi, Ö; Altintas, DU; Serbes, M; Kilinç, AA; Çokugras, H; Arslan, H; Yazan, H; Kafi, HM; Çollak, A; Ünal, G; Yilmaz, AI; Çaglar, HT; Irmak, I; Damadoglu, E; Öztürk, GK; Demir, E; Basaran, E; Bingöl, A; Canitez, Y; Çekiç, S; Asfuroglu, P; Aslan, AT; Harmanci, K; Kiliç, G; Köse, M; Ersoy, A; Hangül, M; Özdemir, A; Özcan, G; Çobanoglu, N; Aydin, ZGG; Keskin, Ö; Yüksel, H; Özdogan, S; Topal, E; Çaltepe, G; Can, D; Ekren, PK; Kiliç, M; Eyüboglu, TS; Pecan, S; Çakir, E; Emiralioglu, N; Özçelik, U; Ersöz, DD
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    Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data
    Onay, ZR; Eyüboglu, TS; Aslan, AT; Gürsoy, TR; Yalçin, E; Kiper, N; Emiralioglu, N; Sen, HS; Sen, V; Ünal, G; Yilmaz, AI; Kilinç, AA; Çokugras, H; Baskan, AK; Yazan, H; Çollak, A; Uzuner, S; Sasihüseyinoglu, AS; Özcan, D; Altintas, DU; Öztürk, GK; Demir, E; Bingöl, A; Basaran, E; Çekiç, S; Sapan, N; Irmak, I; Damadoglu, E; Tugcu, GD; Polat, SE; Özdemir, A; Harmanci, K; Kiliç, G; Hangül, M; Köse, M; Tamay, Z; Yüksel, H; Özcan, G; Topal, E; Can, D; Korkmaz, P; Çaltepe, G; Kiliç, M; Özdogan, S; Çakir, E; Çobanoglu, N; Pekcan, S; Cinel, G; Özçelik, U; Dogru, D
    Background. We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Turkiye (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.
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    The efficacy of inhaled hypertonic saline in children with cystic fibrosis who receive daily DNase.
    Gencoglu, MY; Tugcu, GD; Soydas, SSA; Cinel, G; Emiralioglu, N; Yalçin, E; Kiper, N; Sen,; Altintas, DU; Çokugras, H; Kilinç, AA; Yazan, H; Ünal, G; Yilmaz, A; Çaglar, HT; Damadoglu, E; Irmak, I; Demir, E; Öztürk, G; Bingöl, A; Basaran, E; Sapan, N; Aslan, AT; Asfuroglu, P; Harmanci, K; Köse, M; Hangül, M; Özdemir, A; Özcan, G; Gayretli, ZG; Keskin, Ö; Yüksel, H; Özdogan, S; Topal, E; Çaltepe, G; Can, D; Ekren, PK; Kiliç, M; Eyüboglu, TS; Pekcan, S; Çobanoglu, N; Çakir, E; Özçelik, U; Dogru, D
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    Cystic Fibrosis Patients Eligible for Modulator Drugs: Data from Cystic Fibrosis Registry of Turkey
    Çobanoglu, FN; Ersöz, DD; Çakir, E; Eyüboglu, TS; Pekcan, S; Cinel, G; Yalçin, E; Kiper, N; Sen, V; Sen, HS; Ercan, Ö; Keskin, Ö; Eltan, SB; Al Shadfan, LM; Yazan, H; Altintas, DU; Sasihüseyinoglu, S; Sapan, N; Çekiç, S; Çokugras, H; Atabek, AA; Gürsoy, TR; Aslan, AT; Bingöl, A; Basaran, AE; Özdemir, A; Köse, M; Hangül, M; Emiralioglu, N; Tugcu, G; Yuksel, H; Yilmaz, Ö; Orhan, F; Aydin, ZGG; Topal, E; Tamay, Z; Süleyman, A; Can, D; Bal, CM; Çaltepe, G; Özçelik, U
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    Early Pseudomonas aeruginosa colonization in cystic fibrosis patients
    Ocak, E; Tugcu, GD; Polat, SE; Cinel, G; Emiralioglu, N; Yalçin, E; Kiper, N; Sen,; Altintas, DU; Çokugras, H; Kilinç, AA; Yazan, H; Ünal, G; Yilmaz, AI; Damadoglu, E; Irmak, I; Demir, E; Öztürk, G; Basaran, AE; Bingöl, A; Sapan, N; Aslan, AT; Asfuroglu, P; Harmanci, K; Köse, M; Hangül, M; Özdemir, A; Özcan, G; Aydin, ZGG; Keskin, AÖ; Yüksel, H; Özdogan, S; Topal, E; Çaltepe, G; Can, D; Ekren, PK; Kiliç, M; Eyüboglu, TS; Pekcan, S; Çobanoglu, N; Çakir, E; Özçelik, U; Ersöz, DD
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    Cystic fibrosis in Turkey: First data from the national registry
    Dogru, D; Çakir, E; Sismanlar, T; Çobanoglu, N; Pekcan, S; Cinel, G; Yalçin, E; Kiper, N; Sen, V; Sen, HS; Ercan, Ö; Keskin, Ö; Eltan, SB; Al Shadfan, LM; Yazan, H; Altintas, DU; Sasihüseyinoglu, S; Sapan, N; Çekiç, S; Çokugras, H; Kilinç, AA; Gürsoy, TR; Aslan, AT; Bingöl, A; Basaran, AE; Özdemir, A; Köse, M; Hangül, M; Emiralioglu, N; Tugcu, G; Yüksel, H; Yilmaz, Ö; Orhan, F; Gayretli Aydin, ZG; Topal, E; Tamay, Z; Süleyman, A; Can, D; Bal, CM; Çaltepe, G; Özçelik, U
    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.
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    One-Year Follow-Up of Cystic Fibrosis Patients Who Cannot Reach the Modulator Therapies Although Having Indications: What are Their Losses?
    Uytun, S; Polat, SE; Tabakçi, SÖ; Cinel, G; Emiralioglu, N; Yalçin, E; Kiper, N; Sen,; Altintas, DU; Çokugras, H; Kilinç, AA; Yazan, H; Çollak, A; Uzuner, S; Ünal, G; Yilmaz, A; Çelik, S; Damadoglu, E; Irmak, I; Demir, E; Öztürk, G; Basaran, E; Bingöl, A; Sapan, N; Aslan, AT; Asfuroglu, P; Harmanci, K; Köse, M; Hangül, M; Özdemir, A; Özcan, G; Gayretli, ZG; Keskin, Ö; Yüksel, H; Özdogan, S; Topal, E; Çaltepe, G; Can, D; Ekren, PK; Kiliç, M; Süleyman, A; Eyüboglu, TS; Pekcan, S; Çobanoglu, N; Çakir, E; Özçelik, U; Dogru, D
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    CFTR mutations unidentified in CFTR2 database and their phenotypic characteristics: Data from cystic fibrosis registry of Turkey
    Cinel, G; Dogru, D; Çakir, E; Eyüboglu, TS; Çobanoglu, N; Pekcan, S; Yalçin, E; Kiper, N; Sen, V; Sen, HS; Ercan, Ö; Keskin, Ö; Eltan, SB; Al Shadfan, LM; Yazan, H; Altintas, DU; Sasihüseyinoglu, S; Sapan, N; Çekiç, S; Çokugras, H; Atabek, AA; Gürsoy, TR; Aslan, AT; Bingöl, A; Basaran, AE; Özdemir, A; Köse, M; Hangül, M; Emiralioglu, N; Tugcu, G; Yüksel, H; Yilmaz, Ö; Orhan, F; Aydin, ZGG; Topal, E; Tamay, Z; Can, D; Bal, CM; Çaltepe, G; Özçelik, U
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    Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study
    Emiralioglu, N; Çakir, B; Sertçelik, A; Yalçin, E; Kiper, N; Sen, V; Altintas, DU; Serbes, M; Çokugras, H; Kilinç, AA; Baskan, AK; Hepkaya, E; Yazan, H; Türel, O; Kafi, HM; Yilmaz, AI; Ünal, G; Çaglar, T; Damadoglu, E; Irmak, I; Demir, E; Öztürk, G; Bingöl, A; Basaran, E; Sapan, N; Aslan, AT; Asfuroglu, P; Harmanci, K; Köse, M; Hangül, M; Özdemir, A; Tugcu, G; Polat, SE; Özcan, G; Gayretli, ZG; Keskin, O; Bilgic, S; Yüksel, H; Özdogan, S; Topal, E; Caltepe, G; Can, D; Ekren, PK; Kiliç, M; Süleyman, A; Eyüboglu, TS; Cinel, G; Pekcan, S; Çobanoglu, N; Çakir, E; Özcelik, U; Dogru, D
    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.
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    Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
    Erdal, MA; Büyüksahin, HN; Sen, V; Kilinç, AA; Çokugras, H; Dogan, G; Yilmaz, AI; Ünal, G; Serbes, M; Altintas, DU; Arik, E; Keskin,Ö; Özaslan, MM; Karcioglu, O; Köse, M; Basaran, AE; Çakir, EP; Canitez, Y; Özdemir, A; Harmanci, K; Uytun, S; Polat, SE; Hangül, M; Yüksel, H; Özcan, G; Korkmaz, P; Kiliç, M; Aydin, ZGG; Çaltepe, G; Can, D; Dogru, S; Öztürk, GK; Süleyman, A; Topal, E; Özsezen, B; Hizal, M; Demirdögen, E; Ogun, H; Börekçi, S; Yazan, H; Sen, HS; Demir, AD; Çakir, E; Eyüboglu, TS; Emiralioglu, N; Pekcan, S; Özçelik, U; Dogru, D
    Background. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in T & uuml;rkiye is not known. In this study we aimed to determine the eligibility of CF patients in T & uuml;rkiye for the CFTRms. Methods. The Cystic Fibrosis Registry of T & uuml;rkiye (CFrT) data was used to determine the age of patients in the year 2021 and the genetic variants they were carrying. Age- and CFTR-variant appropriate modulator therapies were determined using the Vertex (R) algorithm. Results. Among a total of 1930 registered patients, CTFR gene analysis was performed on a total of 1841 (95.4%) patients. Mutations were detected in one allele in 10.7% (198 patients), and in both alleles in 79% (1455 patients) of patients. A total of 855 patients (51.7% for whom at least 1 mutation was detected) were eligible for the drugs. The most appropriate drug among genotyped patients was found to be elexacaftor/tezacaftor/ivacaftor for 486 patients (26.4%), followed by ivacaftor for 327 patients (17.7%) and lumacaftor/ivacaftor for 42 patients (2%). Conclusions. Only half of patients registered in CFrT were eligible for CFTRms, which is a significant difference from the CFTR variant profile seen in USA and Europe. However, access to treatment is hampered for some patients whose genes are not analysed. Further studies in CF populations, where rare mutations are relatively more common, will contribute to the field of CFTR modulator treatments for such rare mutations.

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