The Turkish journal of pediatrics最新文献

{"title":"Authors' reply to the letter \"Beyond contamination rates: a broader lens on diagnosing neonatal sepsis\".","authors":"Şebnem Çalkavur, Oğuz Han Kalkanlı, Tuna Ketenci, Nazan Kavas, Miray Yılmaz Çelebi, Arzu Bayram, İlker Devrim","doi":"10.24953/turkjpediatr.2026.7245","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.7245","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 1","pages":"166-167"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to modulator therapy in a cystic fibrosis patient with a single identified <i>CFTR</i> variant not eligible for modulator treatment.","authors":"Mukaddes Ağırtıcı, Merve Nur Tekin, Secahattin Bayav, Esin Gizem Olgun, Emine Semra Küçük Öztürk, Nazan Çobanoğlu","doi":"10.24953/turkjpediatr.2025.6369","DOIUrl":"10.24953/turkjpediatr.2025.6369","url":null,"abstract":"<p><strong>Background: </strong>Cystic fibrosis (CF) is a multisystem disease caused by variants in the CF transmembrane conductance regulator (CFTR) gene affecting ion transport. CFTR modulator therapy has become a significant treatment option for many CF patients. However, access to modulator therapy remains a challenge for cases with rare variants.</p><p><strong>Case presentation: </strong>Our 9-year-old female patient, diagnosed with CF by elevated sweat chloride and history of steatorrhea from birth, carried the rare W1282X variant with no clear eligibility for modulator therapy. The family self-financed one month of elexacaftor / tezacaftor / ivacaftor (ETI) treatment. After one-month, clinical evaluation showed improvements in body mass index (BMI; 14.98 to 15.05 kg/m2), an increase in forced expiratory volume in 1 second (FEV1%) by 12% (72% to 84%), decreased sweat chloride levels (from 83 mEq/L to 9 mEq/L), and enhanced exercise capacity. No pulmonary exacerbations occurred during therapy. Based on these findings, modulator therapy approval was obtained for continued treatment. Our patient is currently 10 years old and has been on modulator therapy for approximately 12 months.</p><p><strong>Conclusions: </strong>Facilitating access to modulator therapies for patients with rare mutations is crucial, considering the potential long-term complications of CF. While organoid studies may not always predict clinical response, real-world cases demonstrate clinically meaningful benefit despite lack of organoid responsiveness. Short-term assessment of modulator response may not adequately reflect improvement in pulmonary function or exacerbation frequency, but decreases in sweat chloride, improvements in nutritional and functional parameters such as weight, BMI, and exercise capacity may be indicative of improvement in pulmonary function and exacerbation rates.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 1","pages":"138-142"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.","authors":"Ayfer Arduç Akçay, Banu Oflaz Sözmen, Mehmet Fatih Erbey, Serap Uysal, Rejin Kebudi","doi":"10.24953/turkjpediatr.2026.6821","DOIUrl":"10.24953/turkjpediatr.2026.6821","url":null,"abstract":"<p><strong>Background: </strong>Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare, immune-mediated neurological disorder, often associated with neuroblastoma (NB) in children. This study aimed to describe the clinical features, diagnostic challenges, treatment, and outcomes of pediatric patients with NB-associated OMAS.</p><p><strong>Methods: </strong>We retrospectively reviewed medical records of seven children diagnosed with NB-associated OMAS between November 1, 2015 and January 31, 2025. Data on demographics, clinical presentation, tumor characteristics, treatment protocols, relapses, and outcomes were collected. The Mitchell-Pike OMS Rating Scale was used to assess severity.</p><p><strong>Results: </strong>The cohort included four girls and three boys, aged 18–36 months (median 31). All had a history of infection and/or vaccination preceding symptom onset. Ataxia was the most common initial symptom (6/7, 85.7%), followed by behavioral disturbances and sleep disorders (5/7, 71.4% each). At presentation, opsoclonus was present in two patients, which was initially misdiagnosed as nystagmus. All but one patient had opsoclonus during the disease course. Neuroblastomas were located in abdominal (n=4), thoracic (n=1), and sacral (n=2) regions; all tumors measured <50 mm and were stage L1. First-line treatment included tumor resection, intravenous immunoglobulin, and corticosteroids. Three patients required second-line therapy (rituximab, cyclophosphamide, mycophenolate mofetil, or azathioprine). After a median follow-up of 40 months (range 26-64), four patients had no neurological sequelae; three had mild cognitive impairment.</p><p><strong>Conclusion: </strong>NB-associated OMAS may present with non-specific symptoms, leading to diagnostic delays. Early recognition, thorough tumor screening, and prompt immunotherapy may improve neurological outcomes. Clinicians should suspect NB in children presenting with ataxia and behavioral/sleep disturbances, even in the absence of opsoclonus or abnormal findings on initial imaging.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 1","pages":"120-129"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perspectives on \"Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia\".","authors":"Rabia Raheem, Munazza Raheem","doi":"10.24953/turkjpediatr.2026.7402","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.7402","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 1","pages":"168-169"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decoding joint complaints in children: a diagnostic approach to rheumatic and non-rheumatic disorders.","authors":"Hatice İvedi, Sibel Balcı, Yunus Emre Bayrak, Ali Öksel, Nihal Şahin, Hafize Emine Sönmez","doi":"10.24953/turkjpediatr.2026.6305","DOIUrl":"10.24953/turkjpediatr.2026.6305","url":null,"abstract":"<p><strong>Introduction: </strong>Musculoskeletal (MSK) complaints are common in children, with many cases ranging from benign to serious conditions. While these patients are often referred to pediatric rheumatologists, only about half are diagnosed with rheumatic diseases. The objective of this study is to identify key clues that assist in the differential diagnosis of patients presenting with joint complaints at pediatric rheumatology outpatient clinic.</p><p><strong>Material methods: </strong>In this one-year study, patients with joint pain were assessed using a standardized form. Demographic, clinical, and examination data were collected and anonymized. Initial assessments were done by pediatric rheumatology fellows or residents, with final diagnoses confirmed by a pediatric rheumatologist.</p><p><strong>Results: </strong>This study included 414 patients aged 0-18 years with joint pain, of whom 273 were diagnosed with rheumatologic conditions and 141 with non-rheumatologic conditions. Patients with rheumatologic conditions had significantly higher laboratory values, including leukocyte counts, neutrophils, platelets, C-reactive protein, and erythrocyte sedimentation rate, all with p < 0.001. Multivariable analysis revealed that arthritis (adjusted odds ratio [aOR] 2.63, 95% confidence interval [CI] 1.09-6.33) and rash (aOR 4.37, 95% CI 1.38-13.86) predicted rheumatic disease in acute presentations, while in chronic complaints arthritis (aOR 2.61, 95% CI 1.30-5.21), morning stiffness (aOR 3.47, 95% CI 1.69-7.11), migratory pain (aOR 3.45, 95% CI 1.01-11.80), and fever (aOR 12.89, 95% CI 4.41-37.68) were independent predictors, whereas myalgia was associated with non-rheumatic conditions (aOR 0.35, 95% CI 0.15-0.83).</p><p><strong>Conclusion: </strong>In conclusion, this study emphasized the importance of clinical clues in diagnosing rheumatic diseases in children with joint pain. An accurate diagnosis depends on a thorough history and physical examination. Improving the differential diagnosis of joint pain is essential to reduce unnecessary referrals and enhance the efficiency of healthcare services.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 1","pages":"94-106"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive value of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 expression levels on the severity of retinopathy of prematurity.","authors":"Chenglv Liu, Lijie Dong, Qiaoling Yang, Lang Bai","doi":"10.24953/turkjpediatr.2025.6725","DOIUrl":"10.24953/turkjpediatr.2025.6725","url":null,"abstract":"<p><strong>Background: </strong>To investigate the diagnostic and pathological staging value of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 levels in retinopathy of prematurity (ROP).</p><p><strong>Methods: </strong>A total of 70 infants with ROP (140 eyes) treated at our hospital from October 2018 to October 2023 were enrolled as the ROP group, while 70 healthy preterm infants (140 eyes) of the same gestational age without ROP were selected as the control group. The relative expression levels of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 were detected by quantitative real-time PCR. Logistic regression analysis was used to identify factors influencing ROP occurrence. The diagnostic efficacy of the three circular RNAs (circRNAs) was evaluated using receiver operating characteristic (ROC) curve analysis.</p><p><strong>Results: </strong>The relative expression levels of hsa_circ_0061346 in serum were significantly higher in the ROP group than in the control group (6.27 ± 3.60 vs. 0.72 ± 0.31, P < 0.05), whereas the levels of hsa_circ_0000095 (1.98 ± 1.38 vs. 3.90 ± 1.75) and hsa_circ_0068606 (1.18 ± 0.51 vs. 7.71 ± 4.45) were significantly lower (all p < 0.05). Multivariate logistic regression showed that abnormal expression of these circRNAs was an independent risk factor for ROP. Notably, the combined diagnostic performance of the three circRNAs yielded an area under the ROC curve of 0.983, with a sensitivity of 100% and a specificity of 97.14%.</p><p><strong>Conclusion: </strong>The combined detection of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 may provide a novel approach for the early diagnosis and severity assessment of ROP.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 6","pages":"798-807"},"PeriodicalIF":0.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146121623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to the letter to the editor: \"Expanding the health-related behavior perspective on problematic internet use in adolescents\".","authors":"Esra Çelik, Ayşe Oflu, Ayşegül Bükülmez","doi":"10.24953/turkjpediatr.2025.7607","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.7607","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 6","pages":"929-930"},"PeriodicalIF":0.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146121677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and predictors of e-cigarette use among adolescents in a tertiary pediatric clinic: insights from the new ECABA Scale.","authors":"Sinem Can Oksay, Gülay Bilgin, Eda Gürler, Yadigar Öztürk, Deniz Mavi Tortop, Zeynep Reyhan Onay, Saniye Girit","doi":"10.24953/turkjpediatr.2025.7284","DOIUrl":"10.24953/turkjpediatr.2025.7284","url":null,"abstract":"<p><strong>Background: </strong>Electronic cigarettes (e-cigarettes) are rapidly infiltrating youth culture under the guise of safety and social acceptance. Despite their prohibition in Türkiye, anecdotal reports suggest widespread access and experimentation among adolescents. This study aimed to determine the prevalence and predictors of e-cigarette use among adolescents attending a tertiary pediatric clinic, using the validated E-Cigarette Attitudes and Beliefs in Adolescents (ECABA) Scale to explore how beliefs shape behavior.</p><p><strong>Methods: </strong>A cross-sectional design with consecutive sampling was employed. A total of 547 adolescents aged 14-18 years without psychological or organic illness participated. Data were collected using the 18-item ECABA Scale, along with demographic, cigarette, and e-cigarette use information. Logistic regression models were used to identify independent predictors of ever and current e-cigarette use.</p><p><strong>Results: </strong>E-cigarette use was alarmingly common: 18.5% had ever tried, and 9.2% were current users. Males and those with peers who smoked or vaped were significantly more likely to use e-cigarettes (p<0.001). Higher ECABA total scores, reflecting more favorable attitudes, independently predicted both ever and current use (odds ratios 1.054 and 1.048 per unit increase, respectively). Subscales related to perceived physical harmlessness and social acceptance also emerged as significant predictors.</p><p><strong>Conclusions: </strong>Adolescents who view e-cigarettes as harmless or socially acceptable are substantially more likely to use them, despite national restrictions. These findings expose a critical gap in prevention efforts and call for urgent school-based interventions to challenge the illusion of “safe vaping.” The ECABA Scale may serve as an effective early warning tool to identify at-risk youth before nicotine dependence takes hold.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 6","pages":"776-788"},"PeriodicalIF":0.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146121604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma cotinine levels and sleep disturbances in children exposed to environmental tobacco smoke.","authors":"Gizem Özcan, Fazılcan Zirek, Nisa Eda Çullas İlarslan, Fatih Günay, Filiz Bakar Ateş, Özge Yılmaz, Nazan Çobanoğlu","doi":"10.24953/turkjpediatr.2025.6453","DOIUrl":"10.24953/turkjpediatr.2025.6453","url":null,"abstract":"<p><strong>Background: </strong>The relationship between sleep disturbances and exposure to environmental tobacco smoke (ETS) in children is a growing health concern. This study aimed to evaluate the association between ETS exposure and sleep disorders in healthy children, and to determine whether there is a difference in this relationship between secondhand smoke (SHS) and thirdhand smoke (THS) exposure.</p><p><strong>Methods: </strong>Healthy children aged 4-12 years who presented to the pediatric outpatient department were consecutively enrolled in this cross-sectional study. Plasma cotinine levels were measured to validate the exposure. The Children's Sleep Habits Questionnaire was used to assess sleep disorders in all children.</p><p><strong>Results: </strong>Of the 203 children we evaluated, with a median (Q1-Q3) age of 8.3 (6-10) years, 99 (49.8%) were female. Children exposed to ETS had significantly more sleep disturbances than children who were not exposed to ETS (p = 0.042). However, there was no significant difference in the plasma cotinine levels (p = 0.239) or the prevalence of sleep disorders (p = 0.648) between children exposed to SHS and those exposed to THS.</p><p><strong>Conclusions: </strong>Exposure to both SHS and THS is associated with an increase in plasma cotinine and a higher prevalence of sleep disorders in children. These findings highlight the importance of reducing children's exposure to all forms of ETS to promote healthy sleep and overall well-being.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 6","pages":"789-797"},"PeriodicalIF":0.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146121577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the health-related behavior perspective on problematic internet use in adolescents.","authors":"Eylem Şerife Kalkan","doi":"10.24953/turkjpediatr.2025.7318","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.7318","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 6","pages":"927-928"},"PeriodicalIF":0.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146121628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}