Background. Respiratory colonization with Pseudomonas aeruginosa is associated with increased morbidity and mortality in cystic fibrosis (CF) patients. This study aims to assess the clinical characteristics and associated factors of CF infants under two years of age with P. aeruginosa colonization in Türkiye. Method. Of the 1637 patients registered in the Cystic Fibrosis Registry of Türkiye in 2019, 284 patients under two years of age were included in this retrospective cross-sectional study. Patients were classified into two groups: those with P. aeruginosa colonization (Group 1) and those without (Group 2). Cystic fibrosis transmembrane conductance regulator (CFTR) gene functions were categorized according to CFTR mutation functional class. Results. Twenty-three patients (8.1%) were categorized as Group 1 and 262 participants (91.9%) were classified as Group 2. Infants with P. aeruginosa colonization (Group 1) were more likely to have minimal CFTR function compared with those without colonization (87% vs. 39.8%, p = 0.017). In addition, both Staphylococcus aureus colonization (47.8% vs. 7.3%, p < 0.001) and methicillin-resistant S. aureus positivity (17.4% vs. 6.1%, p = 0.042) were observed more commonly in Group 1. There were no statistical differences between the groups in terms of age at diagnosis, gender, mean z-scores of weight and height, newborn screening test positivity, sweat chloride test results, and pancreatic insufficiency (p > 0.05). Univariate logistic regression analysis did not identify significant associated factors for P. aeruginosa colonization. Conclusions. Our findings suggest that minimal CFTR function and S. aureus colonization are associated with P. aeruginosa colonization in CF patients under two years of age. Further studies are needed to investigate associated factors for early P. aeruginosa colonization, eradication treatment effectiveness, and longitudinal outcomes of in CF patients under two years of age.

BackgroundAllergic bronchopulmonary aspergillosis (ABPA), is a hypersensitivity reaction in the lung against the antigens of Aspergillus fumigatus. The aim of this study is to determine the incidence of ABPA, and to determine the risk factors leading to the development of ABPA.MethodsThe study was designed as a retrospective cohort study. Using the CF Registry System of Turkey data, the incidence of ABPA was determined and the clinical and demographic characteristics of 44 patients newly diagnosed with ABPA in 2022 and 132 patients with similar mutation weight and age range without ABPA diagnosis in that year were examined and compared. Also risk factors affecting the development of ABPA were determined.ResultsLow pulmonary function test values, having had at least one pulmonary exacerbation in that year, receiving intravenous antibiotic treatment, using inhaled antibiotics, having high number of pulmonary exacerbations, having Pseudomonas aeruginosa colonization, having low body mass index (BMI), having cystic fibrosis related diabetes mellitus were found to be among the risk factors for the development of ABPA.ConclusionsEarly recognition and treatment of ABPA is essential to prevent further damage to the lungs. Patients with frequent pulmonary exacerbations, low BMI and low pulmonary function test values, chronic colonization should definitely be considered for ABPA.

Background: We aimed to assess unmet needs of pwCF in the earthquake zone by income level. Methods: Following the February 6, 2023 Earthquake in Turkiye, the shorter version of the 'Your Current Life Situation' (YCLS) survey was adapted for post-earthquake conditions. The adapted YCLS was administered through face-to-face interviews at participants in seven earthquake-affected provinces to determine the insecurity areas and unmet needs in pwCF. Parents completed the survey for those pwCF under 18 years old; those over 18 completed it themselves. Results: Among 255 participants, 91.7% (n=234) had incomes below the poverty threshold and 71.8% (n=183) below the hunger threshold. Post-earthquake, 69% (n=176) lived in overcrowded conditions and 37.6% (n=96) relocated to temporary housing. Under these challenging circumstances, 34.5% (n=88) of pwCF experienced disruptions in routine visits, and 20.8% (n=53) reported disruption in daily CF care routine. Financial and food insecurities were prevalent, with 77.3% (n=197) and 53.3% (n=136) of participants affected, respectively. The potential impact of earthquake-induced relocation on the participants' insecurity status was analyzed. Among those who relocated, financial, transportation, and housing insecurity appeared to be more prevalent (p<0.001). Conclusion: This is the first study to analyze association between income level and unmet needs among pwCF living in earthquake-affected zone. The study revealed significant financial and food insecurity among pwCF in these areas. The findings emphasize the need for disaster-specific emergency action plans to address these vulnerabilities, ensuring access to healthcare and basic needs during crises.

OBJECTIVE:The Cystic Fibrosis Registry of Türkiye (CFRT) was established by the Turkish Pediatric Respiratory Diseases and Cystic Fibrosis Society and has provided detailed information on demographic, clinical, genetic, and treatment-related aspects of cystic fibrosis (CF) patients since 2017. We aimed to describe the current status of CF in Türkiye using CFRT's 2023 annual data. MATERIAL AND METHODS:Demographic, clinical, and treatment data were taken from CFRT's 2023 record. RESULTS:In 2023, 2,258 patients from 34 centers were recorded. The median age of patients was 9.1 years, and 46.9% were female, with a median age at diagnosis of 0.3 years. Only 14.9% of the patients were older than 18 years. Genetic analyses were completed in 97.3% of patients. The most common variant, F508del, had a total variant frequency of 22.1%. The median percent predicted FEV1 and FVC were 88.0 and 94.0 in those aged 6-17 years 71.0 and 84.0 in those aged ≥18 years, respectively. The median values of body mass index z-scores were -0.5, and -0.5 for patients 2-18 and older than 18 years, respectively. Chronic colonization with Pseudomonas aeruginosa was present in 17.2% of the patients. Most patients used inhaled recombinant human DNase (87.1%) and oral pancreatic enzyme replacement treatment (83.0%). CF transmembrane conductance regulator (CFTR) modulators were used by 15.9% of patients. Over the year, 24 patients died, with a median age at death of 13.3 years. CONCLUSION:The CFRT report provides a valuable resource showing the clinical and laboratory data of patients with CF in the country.

BACKGROUND:Due to the amazing developments in modulatory treatments, genetic analysis of cystic fibrosis (CF) patients has become even more important. More than 2000 disease-causing variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been found, and their ethnic and geographical distributions vary. We aimed to present the first genetic data from the Southeastern Anatolia region of Turkey and evaluate patients' clinical and genetic characteristics and identify modulatory drugs covering a wider range of mutations by detecting and reporting new mutations. METHODS:Our study included 337 CF patients from three CF reference centers in the Southeastern Anatolia region. RESULTS:Ninety-one distinct mutations and four significant deletions were identified by analyzing CFTR mutations. The most prevalent mutation in our research was F508del (8.92%); the second most prevalent mutation was 2183AA->G, and the third most prevalent mutation was R347P. Additionally, a novel mutation (V1160X) was identified in two siblings. Only 33.5% of our patients qualified for CFTR modulator medication therapy. CONCLUSION:This study elucidates the diverse nature of CFTR mutations in the Turkish population. The heterogenous genetic pool of the Southeastern Anatolia region is more similar to Mesopotamia than to other regions of our country, and receives immigration from the East. Detection and reporting of novel mutations and CFTR mutations that occur at very low frequencies from different populations living in various geographical areas are essential for identifying modulatory medicines that cover a broader range of mutations and also help genetic diagnosis of CF in newborn screening.

Infection with nontuberculous mycobacterium (NTM) has been on the rise worldwide. Although the incidence rate of NTM infection has increased, little is known about its species diversity and clinical significance. Investigating the variety and load of NTM species in pulmonary and extrapulmonary clinical isolates from a community in southeast Turkey is the goal of this study. The prevalence of NTM and the clinical significance of pulmonary NTM (PNTM) are evaluated in this cross-sectional study. Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) and multiplex PCR were used to identify NTM species. Between 2014 and 2023, a total of 30,539 clinical samples from 14,586 tuberculosis (TB)-suspected patients were analyzed. Among the 1159 mycobacterial isolates, 85.25% were identified as Mycobacterium tuberculosis complex (MTBC), while 14.75% were identified as NTM. Of the NTM isolates, 88.88% were pulmonary, while 11.11% were extrapulmonary. The majority of NTM isolates consisted of slow-growing species (67.84%). MTBC rate has decreased while the NTM rate has increased over the years. Of the 171 NTM isolates, identification was performed for 66 isolates. Overall, 16 different NTM species were identified. The most frequently isolated species were Mycobacterium simiae 28.78% (19/66), Mycobacterium avium complex 21.21% (14/66), and Mycobacterium abscessus complex 13.63% (9/66). Among the 66 patients with NTM isolation, the mean age was 39 (±23.10). On applying the American Thoracic Society/Infectious Disease Society of America (ATS/IDSA) criteria to determine the clinical relevance of the 61 patients with PNTM isolation, only 36.06% had nontuberculous mycobacterial pulmonary disease (NTMPD), and the majority were caused by M. simiae (40.9%). Chronic obstructive pulmonary disease was significantly more common in the American Thoracic Society criteria -positive group (22.7%, P = .004). Nodular bronchiectatic patterns occurred significantly more often in the American Thoracic Society criteria-positive group (77.3%, P <.001). A statistically significant correlation was determined between NTMPD and fatigue, although fatigue was not specific for a diagnosis of NTMPD. Cough was the predominant symptom. In conclusion, our findings indicate that the species diversity of NTM isolates in our region differs from that observed in other cities across Turkey. M. simiae emerged as the species with the highest isolation frequency and clinical significance.

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 Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms. Methods. The Cystic Fibrosis Registry of Türkiye (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® 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.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs. Methods: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the 'Vertex treatment-Finder' on the Vertex (R) website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators. Results: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p = .010), lower median height z-scores (-0.87 vs. -0.55, p < .001), lower median body mass index z-scores (-0.65 vs. -0.50, p < .001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0-2] vs. 0 [IQR: 0-7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1. Conclusion: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes.

OBJECTIVE:Mean apnea-hypopnea duration (AHD) is the mean duration of apnea-hypopneas experienced during sleep and was found as an indicator of blood oxygenation. The aim of this study was to compare and define the differences in clinical, demographic and polysomnographic characteristics of obstructive sleep apnea (OSA) patients in long and short AHD groups and investigate the relationship between apnea-hypopnea index (AHI), oxygen desaturation index (ODI), and sleepiness. METHODS:The cross-sectional analysis included 511 OSA patients who were >18 years and followed up between June 2019 and December 2019 in the Sleep Center of university hospital. The consecutive polysomnography reports and patient data were recorded retrospectively. RESULTS:Polysomnographic evaluation of different AHD groups showed obvious differences. Although there were no statistically significant differences in the overall AHI values. The Epworth measurements, ODI, time that saturation is below 90%, and N1 and N2 sleep were higher in the long AHD group. On the contrary, sleep efficiency, total sleep time, N3 and REM sleep, average oxygen saturation (AOS), and lowest oxygen saturation (LOS) were lower in the long AHD group. CONCLUSIONS:The findings of this study showed that the AHD is a useful indicator of blood oxygenation and, therefore, tissue oxygenation, independent of the AHI. OSA patients with longer AHD have more vascular complications such as diabetes and hypertension. We suggest that the severity of OSA should be monitored with AHD for preventing potential complications of OSA.

Congenital pulmonary airway malformations are rare developmental lung anomalies, five types of which have been classified by Stocker.The condition is generally diagnosed prenatally during routine prenatal ultrasonography, however, some cases are asymptomatic and so may not be diagnosed until later in life.Clinically, the condition can present in newborns with shortness of breath, cyanosis and respiratory distress, and may lead to recurrent infections in later ages, and malignant transformations have been defined in literature.Here, we present a case that may be of interest to literature not only due to the diagnosis later in life, but also due to the development of a mesenchymal tumor in the background.

Behçet's disease is an autoinflammatory disease characterized by recurrent painful oral ulcers with small, medium and large diameter vessel involvement.Although the pathogenesis is not clearly understood, the hypersensitivity of T-cells to antigens is known to play an important role.The hyperactivation of T-cells leads to an increase in such proinflammatory cytokines as IFN-gamma and TNF-alpha, which are responsible for the symptoms of Behçet's disease.The primary clinical concerns are mucosa, skin and ocular lesions, while minor concerns are joint, neurological, gastrointestinal, vascular and pulmonary anomalies.Vascular involvement and pulmonary involvement, while rare, are the prominent clinical presentations.We present this case to literature as a rare example of bilateral pulmonary artery aneurysms.

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.

Pulmonary embolism refers to obstructions of the pulmonary arterial bed due to various etiologies.In most cases, pulmonary embolisms are caused by blood clots that travel to the lungs from the deep veins in the legs or, more rarely, from veins in other parts of the body.Today, the new generation oral anticoagulants are preferred for the treatment of pulmonary embolism due to their ease of use and greater reliability.The new oral anticoagulants are novel direct-acting medications that are selective for a specific coagulation factor, either thrombin or activated factor Xa, among which Rivaroxaban has been used in many countries.Lupus anticoagulant autoantibodies are considered a common culprit in the etiology of pulmonary embolisms with no underlying risk factor, which may lead to false positives in patients using Rivaroxaban.A case with lupus anticoagulant autoantibody positivity due to rivaroxaban usage is presented here to draw attention to this issue.

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.

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.