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Background and Objectives: Data on characteristics of asthma in children with sickle cell disease (SCD) is conflicting. Recently, the L-arginine pathway has gained attention in the pathogenesis of asthma and SCD. This study aimed to determine the distinctive clinical and laboratory features and the role of arginine metabolism in asthmatic children with SCD. Materials and Methods: A total of 52 children and adolescents with SCD, including 24 with asthma (SCD-A) and 28 without asthma (SCD-NA), and 40 healthy controls were included. A questionnaire, atopy tests, fractional exhaled nitric oxide (FeNO), and lung function tests were employed. Serum metabolites of the arginine pathway were measured. The results of the three groups were compared. Results: The demographic characteristics and atopy markers of the three groups were similar. FEV1%, FEV1/FVC, MMEF%, and total lung capacity (TLC%) values of SCD-A patients were not significantly different from the SCD-NA group, but they were significantly lower than the values measured in the controls. FeNO values greater than 35 ppb were present only in the SCD-A group. In impulse oscillometry, median resistance values at 5 Hz (R5)% were higher in both SCD subgroups than in healthy controls (p = 0.001). The (R5-20/R5)% values were higher in the SCD-A group (p = 0.028). Serum arginine levels and arginine bioavailability indices were significantly lower in the SCD-A group than in the SCD-NA group and healthy controls (p = 0.003 and p < 0.001). Conclusions: Asthma in children with SCD was not associated with atopy or low FEV1/FVC levels. However, lower arginine bioavailability and higher FeNO levels differentiated asthma in patients with SCD. High R5% and (R5-20/R5)% values indicated increased airway resistance in SCD, with a predominance of small airway disease in asthmatics.

Objective: To determine the cumulative effects of Mediterranean fever gene polymorphisms and mutations in patients with ?nflammatory bowel diseases. Methods: The case-control study was conducted from January, 2012, to January, 2016,at Cukurova University, Turkey, and comprised patients diagnosed with inflammatory bowel diseases and followed up at the Children Gastroenterology Department. By using molecular methods, 12 Mediterranean fevergene variants most frequently observed in the country were examined in all the diagnosed cases. The results were compared with age-matched healthy population data from the Genetic Diseases Diagnosis and Treatment Centre. Data was analysed using Graph Pad Prism. Results: Of the 151 subjects, 46(30.4%) were cases and 105(69.5%) were controls. Among the cases, there were 23(50%) subjects with a mean age of 14.8±3 years who had ulcerative colitis, and 23(50%) with mean age 14.5±3.2 years who had Crohn’s disease. The mean age of the controls was 16.4±3.2 years (p=0.716). Patients with ulcerative colitishad high frequencies of C allele in D102D T>C variant, G allele in G138G A>G variant, A allele in A165A C>A variant and A allele in R202Q G>A variant. Those with Crohn’s disease frequently had wild type of R202Q G>A variant. Also, D102D T>C / R314R C>T haplotype was common at a certain level in the UC group. Conclusions: Mediterranean fever gene variant was more frequently found in cases with ulcerative colitis compared to the controls. Key Words: MEFV, IBD, FMF, Polymorphism, Children. Continuous....

Pediatric data on the clinical and etiologic features, treatment response, and use of omalizumab for chronic urticaria (CU) are quite limited. The aim of this study was to evaluate the clinical and demographic characteristics, laboratory findings, and response to treatment of CU in children. Children with a diagnosis of CU between 2019 and 2023 were included in the study. Information on demographic characteristics, clinical features, laboratory tests, provocation tests for inducible urticaria, urticaria activity scores (UAS7), and treatment responses were obtained from patients’ medical records. A total of 150 children (50.7% male) with CU were enrolled in the study. A total of 14 (9.3%) patients had autoimmune diseases of which 11 (7.3%) had autoimmune thyroiditis. Overall, 97 (64.7%) patients had chronic spontaneous urticaria (CSU) and 53 (35.3%) had chronic inducible urticaria. A total of 16 patients who remained symptomatic despite high-dose antihistamines were treated with omalizumab, with a good response in 13 (81.3%) and a partial response in 3 (18.7%) patients. CSU accounts for the majority of pediatric CU, with the etiology being in part related to an autoimmune background. This study provides an overview of CU in children and demonstrates the safety and efficacy of treatment with omalizumab.

Konjenital lober amfizem, alt solunum yollarında hiperinflasyon ile karakterize nadir rastlanan akciğerin doğumsal bir anomalisidir. Konjenital lober amfizemli hastalarda klinik seyir, hastalığın ortaya çıktığı yaşa, etkilenen loba veya normal lobların baskılanmasına bağlı olarak değişebilir. Tanısı klinik ve görüntüleme yöntemleri ile birlikte konulur. Semptomları hafif olan olgular konservatif tedavi ile izlenirken, ağır solunum semptomu olan olguların lobektomi ile tedavisi iyi sonuçlar vermektedir. Konjenital lober amfizem, nadir görülen bir akciğer anomalisi olmasına rağmen, nedeni bilinmeyen solunum sıkıntısı olan hastalarda ayırıcı tanıda göz önünde bulundurulması gereken bir hastalıktır. Bu yazıda erken dönemde konjenial lober amfizem tanısı konulan, hafif semptomları olması nedeniyle de konservatif tedavi yöntemleri ile izlenilen 4 aylık kız hasta sunulmaktadır.

Purpose: Regular transfusions cause progressive iron deposition in critical organs such as heart, liver and lungs in transfusion-dependent thalassemia (TDT). We aimed to evaluate respiratory dysfunction and factors affecting respiratory dysfunction in patients with TDT.Materials and Methods: Patients with TDT treated at department of Pediatric Hematology/Oncology of Sağlık Bilimleri University, Adana Education and Research Center were evaluated retrospectively. Results: Respiratory function tests were performed in 40 patients (19 female; 21 male) with TDT. The mean age at diagnosis was 6.63±5.74 months, mean body mass index was 18.57±2.27 kg/m², mean transfusion program duration was 151.67±50.48 months. Splenectomy rate was 48%. All of the patients were using iron chelation therapy. Respiratory function tests reveled normal findings in 57.5%, restrictive lung dysfunction with small airway obstruction findings in 27.5% and isolated restrictive dysfunction in 15% of patients. There was no statistically significant difference in respiratory dysfunction according to age, gender, transfusion program duration, ferritin and hemoglobin levels, presence of splenectomy, or type of chelation therapy. Patients with ferritin levels above 2500 ng/dl had significantly lower values for forced expiratory volüme (FEV1) and forced vital capacity (FVC) Conclusion: In our study, restrictive respiratory dysfunction was detected in nearly half of the patients with TDT who had no respiratory symptoms. Higher ferritin levels may indicate the need for close follow-up for respiratory symptoms.