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Background: Since January 2015, the Cystic Fibrosis National Newborn Bloodspot Screening (CF-NBS) program has been implemented in Türkiye with two samples of immune reactive trypsinogen (IRT-1/IRT-2) testing. Aims: To evaluate the Turkish national CF screening program, which included patients referred to a tertiary pediatric pulmonology center, to ascertain the optimal cut-off values for IRT-1/IRT-2 and to identify alternative strategies for mitigating the number of late-diagnosed false-negative patients (FNPs) who initially exhibited screen negative results but were diagnosed subsequently based on clinical suspicion. The study also compared NBS-positive patients to FNPs to determine the influence of delayed diagnosis. Study Design: A retrospective cohort study. Methods: Screening for CF was conducted in accordance with the national CF-NBS program within 48-72 hours of birth by collecting a few drops of heel blood on Guthrie paper. A cut-off value of 90 µg/l was accepted for the first IRT, while 70 µg/l was accepted for the second sample. Infants with elevated IRT values in both samples were referred to the CF centers for a sweat test (ST). Based on the diagnosis, the NBS-positive infants referred to our CF center for ST analysis were divided into three groups: CF; cystic fibrosis-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID); and false-positive NBS. In addition, the study included NBS-negative patients who initially received negative screen results but were subsequently diagnosed with CF based on clinical suspicion. Results: Of the 227 NBS-positive infants referred within the study period, 53 (23.34%) were diagnosed with CF (true-positive NBS), 11 were classified as CRMS/CFSPID (4.84%), and 163 were classified as false-positive NBS (71.8%). CF was diagnosed in 66 infants, 53 (80.3%) of whom were confirmed using the NBS test, while the 13 (19.7%) patients who were missed on the NBS test were diagnosed based on clinical suspicion (FNP). The study findings indicate that the IRT/IRT approach exhibited a sensitivity of 80.3% and a positive predictive value (PPV) of 23.3%. Conclusion: The current study is the first to analyze the NBS program for CF using data from the Western Anatolian Region of Türkiye. Due to the low sensitivity and PPV of the IRT/IRT protocol and the high proportion of false-positive infants and FNPs, the current national program is not practicable for Türkiye. False-negative results significantly delay the diagnosis and invalidate the screening objectives. It is essential to establish optimal cut-off values for IRT-1/IRT-2 or revise existing strategies to reduce the number of FNPs missed by the screening program.

Aim: Cystic fibrosis (CF) is an autosomal recessive disorder. Although it is considered as an epithelial disease due to impaired chloride transport, its pathogenesis remains unclear. CF is classified as a syndrome with congenital defects of phagocyte in recent human inborn errors of immunity phenotypic classifications. Neutrophils are the most effective cells in the eradication of bacterial infections such as Pseudomonas aeruginosa. The aim of the present study was to investigate the phagocyte functions in pseudomonas colonized CF patients. Materials and Methods: A total number of 26 pseudomonas colonized CF patients and 21 healthy controls (gender and age matched) were included in this study. Absolute neutrophil counts (ANC), immunoglobulin values (Ig), the Migratest to evaluate chemotaxis in neutrophils and monocytes, CD11A/CD18/CD15 S (b2 integrin) adhesion molecules, and the Phagoburst test for intracellular bacterial killing were analyzed by flow cytometer. Results: ANC, CD15S expression on neutrophils and IgG, IgA and IgM levels were higher in the CF patients than the control group (pG had significantly lower chemotaxis indexes than the others (p=0.01, p=0.01 respectively). Conclusion: Our results from a small group of patients does not support impaired functions such as migration and phagocytosis of neutrophils in patients with CF. Further studies involving more CF patients are needed to make a definitive interpretation.

Objective: Pseudo-Bartter syndrome (PBS) is a complication of cystic fibrosis (CF) accompanied by electrolyte disorders. We aimed to compare the clinical features of patients diagnosed with CF with or without PBS in our clinic. Method: One hundred twenty-eight patients with the diagnosis CF data was recorded. Clinical features, diagnostic test results, colonization status, complications and genetic test results were compared in patients with and without PBS. Results: Totally 128 patients who were regularly followed diagnosis CF January 2017 and May 2022 and 18 of them (14%) developed PBS. Median age of CF diagnosis was significantly lower in patients with PBS (p

Aim:Bronchial asthma and allergic rhinitis are mediated by similar allergic inflammatory mechanisms. Platelets play a role in allergic reactions which are inflammatory processes. The mean platelet volume (MPV) is a marker of platelet activation. This study aimed to investigate MPV value differences between children with allergic rhinitis during symptomatic or asymptomatic periods to determine whether MPV is a useful indicator of inflammation in allergic rhinitis.Materials and Methods:The records of those patients with allergic rhinitis were analyzed retrospectively. Patients over two years of age who had complete blood count results from both their asymptomatic and the symptomatic periods were included in this study. Clinical characteristics (age, age at diagnosis, symptoms, and comorbid allergic diseases) and laboratory data (thrombocyte count, MPV, white blood cell count, eosinophil count, and percentage, immunoglobulin E level, and skin prick test results) were recorded from the patient files and the hospital registry system.Results:MPV values during the symptomatic periods were statistically significantly higher than those from the asymptomatic period (p

Introduction: Anaphylaxis is a severe hypersensitivity reaction that can be life-threatening. The frequency of anaphylaxis varies among the societies. In this study, the demographic characteristics, clinical course, triggering agents and treatment approaches of the patients who were diagnosed with anaphylaxis in our pediatric allergy clinic were evaluated. Materials and Methods: The medical records of children who received a diagnosis of anaphylaxis between 2010 and 2012 were retrospectively evaluated. Results: Between 2010 and 2012, 39.371 patients were admitted to our outpatient clinic. Sixty-six patients (49 male, 17 female) with a mean age of 8.9±5.3 years were evaluated as anaphylaxis. In 37 of the cases, anaphylactic attack occurred at home. Dermatological symptoms were the most frequent complaints. A probable cause of anaphylaxis was identified in all the patients except for five of them (92.4%). Food was the cause of anaphylaxis in 25 of the cases, followed by hymenoptera sting in 22 patients and drugs in 14 patients. The most common causes of anaphylaxis according to age groups were food, hymenoptera sting and drugs (0-3 years, 4-14 years and over the age of 14, respectively). Antihistamines were applied to all patients. The other medications that were applied were corticosteroid, oxygen, intravenous fluids, adrenaline (21/66), and salbutamol. Conclusions: The common cause of anaphylaxis in children is food allergens. However, the frequency decreases by age and other causes are more common than food. In our country, usage of adrenaline for the treatment of anaphylaxis is low.