The Turkish journal of pediatrics最新文献

{"title":"A pediatric-onset case of chronic kidney disease caused by a novel sporadic <i>ACTN4</i> variant and literature review.","authors":"Wei Li, Hui Guo, Meiying Shao","doi":"10.24953/turkjpediatr.2025.5780","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5780","url":null,"abstract":"<p><strong>Background: </strong>The α-actinin-4 (ACTN4) gene encodes an actin-binding protein, which plays a crucial role in maintaining the structure and function of podocytes. Previous studies have confirmed that ACTN4 mutations can lead to focal segmental glomerulosclerosis-1 (FSGS1), a rare disease primarily manifesting in adolescence or adulthood, characterized by mild to moderate proteinuria, with some cases progressing slowly to end-stage renal disease.</p><p><strong>Case presentation: </strong>We report a 12.5-year-old boy who presented with non-nephrotic range proteinuria, hyperuricemia, markedly reduced bilateral kidney volume, and stage 3 chronic kidney disease (CKD). An ophthalmic examination revealed optic disc dysplasia in the right eye. The results of whole-exome sequencing revealed a de novo variant in the ACTN4, a previously unreported variant.</p><p><strong>Conclusions: </strong>We reported a novel sporadic ACTN4 variant and reviewed previously reported cases. Through analysis of the genotypes and clinical phenotypes of reported cases, we found that ACTN4 variants may not always present as FSGS1, and there was significant phenotypic heterogeneity among individuals. Notably, mutations affecting residues 260-265 are associated with collapsing glomerulopathy and rapid progression to end-stage kidney disease in prior studies, whereas the p.Ala278del variant in our case, located outside this region, exhibited stable CKD3. This suggests domain-specific genotype-phenotype correlations. However, this association requires further validation through additional cases and experiments. Our findings may have significant implications for clinical diagnosis, prognosis assessment, and scientific research on kidney diseases related to ACTN4 variants.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"581-589"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031597","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":"Clinical and laboratory characteristics of children with leukemia: a 34-year single-center experience.","authors":"Hüseyin Bahadır Şenol, Özlem Tüfekçi Gürocak, Şebnem Yılmaz, Hale Ören","doi":"10.24953/turkjpediatr.2025.6171","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.6171","url":null,"abstract":"<p><strong>Backround: </strong>Leukemia is the most common childhood malignancy and often presents with nonspecific symptoms, which may lead to delays in diagnosis. Early recognition of clinical signs and laboratory abnormalities is essential to ensure timely referral and improve outcomes. This study assesses the clinical and laboratory characteristics of pediatric patients with acute and relapsed leukemia, points out key considerations during diagnosis, and investigates potential factors contributing to delayed diagnosis.</p><p><strong>Methods: </strong>A retrospective analysis was performed on pediatric patients diagnosed with leukemia at a tertiary care hospital between the years 1986 and 2020. Early diagnosis was defined as a diagnosis made within 20 days of symptom onset.</p><p><strong>Results: </strong>Among the 378 patients, fatigue was the most frequently reported symptom, followed by fever and bone or joint pain. Common laboratory abnormalities included anemia (83%), thrombocytopenia (80%), and leukocytosis (46%). Bone or joint pain (p< 0.001), mucosal bleeding (p=0.013), and pallor (p=0.005) were significantly associated with late diagnosis. In contrast, lymphadenopathy (p=0.014) and bone tenderness (p=0.024) were linked to earlier recognition. Among laboratory findings, low hemoglobin levels were associated with early diagnosis (p=0.023) and elevated platelet count was also significantly related to delayed diagnosis (p=0.028). In relapsed leukemia cases, abnormal blood count findings were common, and neurological symptoms were observed more frequently compared to acute leukemia patients.</p><p><strong>Conclusions: </strong>Fatigue, fever, and bone or joint pain were identified as the most common presenting symptoms in acute leukemia cases, while hepatomegaly, splenomegaly, and lymphadenopathy were the predominant physical findings. Bone or joint pain, mucosal bleeding, and pallor were associated with late diagnosis, whereas lymphadenopathy and bone tenderness appeared to facilitate earlier recognition.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"559-568"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031673","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":"Authors' reply to the letter: \"Evaluation of serum procalcitonin as a diagnostic tool to differentiate bacterial sepsis from rheumatic flare-ups in children with rheumatic disorders\".","authors":"Srinanda Majumder, Madhumita Nandi, Sandipan Sen","doi":"10.24953/turkjpediatr.2025.6430","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.6430","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"609-610"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031523","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":"Spastic cerebral palsy and quality of life in children aged 6-12 years: exploring key associated factors.","authors":"Lütfiye Koru, Serhat Güler, Sema Saltık","doi":"10.24953/turkjpediatr.2025.5793","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5793","url":null,"abstract":"<p><strong>Background: </strong>Children with cerebral palsy (CP) may experience epilepsy and challenges with movement, posture, cognition, and musculoskeletal development, which can impact their quality of life (QOL). In this study, we investigated the relationship between demographic and clinical variables as well as QOL in children with spastic CP.</p><p><strong>Methods: </strong>Children aged 6 to 12 years with CP who were followed-up at our tertiary center were included in this cross-sectional study, regardless of the cause. They were categorized into groups based on their gestational age, motor function levels, accompanying conditions such as epilepsy and intellectual disability, and demographic variables, including mothers' education and income levels. Subsequently, the QOL scores of these groups were compared. Among the 9-12 age group, those with sufficient intellectual capacity completed the QOL questionnaire by both the mothers and patients themselves. The Children's Sleep Habits Questionnaire (CSHQ) was evaluated and compared with the QOL scores of the patients.</p><p><strong>Results: </strong>A total of 71 patients were included in the study (42 males, 59%). Children whose mothers were more educated and had higher in income level, who were ambulatory with hemiplegia, and did not have epilepsy had significantly better QOL scores. Those with better CSHQ scores were found to have significantly better QOL scores. Additionally, the responses of mothers and patients within the 9-12 age group were highly compatible.</p><p><strong>Conclusion: </strong>Children with CP face challenges impacting their daily lives and overall QOL. Our study identified factors linked to the QOL of children with spastic CP and showed that their integration into CP management could enhance their well-being.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"522-532"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031558","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":"Clinical spectrum of pediatric neutropenia: mostly benign, but not to be overlooked.","authors":"Şefika Akyol, Özlem Tüfekçi, Şebnem Yılmaz, Hale Ören","doi":"10.24953/turkjpediatr.2025.6175","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.6175","url":null,"abstract":"<p><strong>Background: </strong>Neutropenia is a common laboratory finding in children, therefore it is a common referral reason to pediatric hematology units. This study hypothesizes that most neutropenic children do not require pediatric hematology consultation, and that key clinical indicators can guide the need for referral.</p><p><strong>Methods: </strong>Medical records of 180 patients who were admitted to a tertiary reference center, were evaluated in terms of demographical data, physical examination findings, laboratory findings, and outcome measures. The patients enrolled in the study had newly diagnosed or incidental neutropenia and did not meet the criteria for chronic neutropenia. Neutropenia was classified based on absolute neutrophil count (ANC) as follows: mild (1000–1499/mm³), moderate (500–999/mm³), severe (200–499/mm³), and very severe (<200/mm³).</p><p><strong>Results: </strong>Of the 180 patients enrolled, 51.7% were male, with a mean age of 4.8 years (min-max: 1 week- 17 years). 12 patients (6.7%) were diagnosed with congenital neutropenia. The median age for patients diagnosed with congenital neutropenia was 12 months, whereas it was 47 months for those with post-infectious neutropenia (p=0.037). 64.4% of patients had no known prior disease, and 45% were incidentally found to have neutropenia. The average ANC was 732/mm³, with 26.1% having mild, 47.2% moderate, 19.4% severe, and 7.2% very severe neutropenia. Etiological causes included post-infectious (53.9%), idiopathic/immune (25.6%), congenital (6.7%), and drug-related (6.7%) neutropenia. The median ANC for congenital neutropenia patients was 200/mm³, and their infection rates were significantly higher than the other groups (p=0.001). The mean follow-up period was 10 months, with 69.4% of patients having normal ANC at the last follow-up.</p><p><strong>Conclusions: </strong>Despite the increased frequency of neutropenia in childhood, a vast majority of the cases have a benign and transient clinical course.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"465-472"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031606","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":"Excess mortality and disease burden due to conflict in Gaza: focus on the 0-14 age group.","authors":"Mehmet Enes Gökler","doi":"10.24953/turkjpediatr.2025.6109","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.6109","url":null,"abstract":"<p><strong>Background: </strong>The ongoing conflict in Gaza continues to take an unbearable toll, with particularly severe impacts on children. Measuring the burden of conflict-related disease in Gaza in terms of disability-adjusted life years (DALYs) is important in terms of showing this effect. The aim of this study was to calculate the conflict-related DALY in Gaza among children aged 0-14 years, following the October 7 events and compare these values with global and expected values.</p><p><strong>Methods: </strong>We estimated the age and gender distribution of individuals killed or injured in Gaza, and calculated the DALYs, including Years of Life Lost (YLL) and Years Lived with Disability (YLD), attributable to the conflict. These estimates were then compared to the Institute for Health Metrics and Evaluation data for Palestine and global averages. The study also evaluated the DALY/YLD ratio and excess mortality rate.</p><p><strong>Results: </strong>The DALY per 100,000 population was 160,745.01 (156,986.01-164,503.99) for males, 175,784.51 (170,812.52-180,756.50) for females, and 168,111.39 (164,009.17-172,213.62) overall. The daily DALY burden experienced by Gaza due to conflict indicates an increase of 181.05% compared to Palestinian estimates. The increase was calculated as 115.39% for YLL and 4,268.25% for YLD. Compared to global data for conflict and terrorism, the increases in daily DALY, YLL, and YLD values in Gaza were 1,918.08%, 1,316.32%, and 8,537.50%, respectively. The data calculated in our study indicate that the daily DALY/YLD ratio for the 0-14 age group in Gaza was 333.21 with a p-score of 6,952.0%.</p><p><strong>Conclusion: </strong>To reduce the devastating effects of violence, such as conflict and terrorism, on children's health, more effective measures should be taken at the international level and preventive strategies should be developed.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"455-464"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031654","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":"The reliability and validity study of the Turkish version of Brief Measure of Eating Compulsivity (MEC) among adolescents.","authors":"Zeynep Tüzün Gün, Melis Pehlivantürk Kızılkan, Nuray Kanbur","doi":"10.24953/turkjpediatr.2025.6271","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.6271","url":null,"abstract":"<p><strong>Background: </strong>Food addiction has been increasingly recognized as a contributing factor to obesity and eating disorders. Compulsive eating, characterized by an uncontrollable urge to consume food despite adverse consequences, shares behavioral similarities with substance addiction. This study aims to adapt the Brief Measure of Eating Compulsivity (MEC) into Turkish and evaluate its validity and reliability in the adolescent population.</p><p><strong>Methods: </strong>The study included a sample of 89 adolescents aged 12-18 years. Participants without chronic medical or psychiatric conditions affecting eating behaviors were included. The adaptation process involved translation, back-translation, and expert evaluations to ensure cultural and linguistic appropriateness. The psychometric properties of the Turkish MEC were assessed through internal consistency, exploratory factor analysis, and criterion validity using the Yale Food Addiction Scale (YFAS).</p><p><strong>Results: </strong>The internal consistency of the Turkish MEC was 0.89, with item-total correlations ranging from 0.56 to 0.72. Factor analysis supported a single-factor structure explaining 52.6% of the variance. Convergent validity was established through a significant positive correlation with YFAS scores (r = 0.57, p < 0.001). Criterion validity analysis demonstrated significantly higher MEC scores in individuals classified as food addicts by YFAS (p = 0.025). Additionally, significant differences in MEC scores were observed across body mass index categories (p = 0.010), with higher scores in adolescents with obesity compared to the normal-weight group.</p><p><strong>Conclusions: </strong>The Turkish version of the MEC demonstrated strong reliability and validity among adolescents, supporting its use in assessing compulsive eating behaviors. Given the increasing prevalence of obesity and eating disorders in Turkish youth, this tool provides a valuable resource for early detection and intervention in research and clinical settings.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"493-500"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031526","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":"Recognizing the overlooked: rethinking autism spectrum disorder symptom presentation in girls.","authors":"Ayşe Mete Yeşil, H Ceren İskender, Ebru Cihan Çam, Emel Ömercioğlu, Şeyma Kılınç, Elif Nursel Özmert","doi":"10.24953/turkjpediatr.2025.5636","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5636","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorder (ASD) is more frequently diagnosed in boys than in girls, possibly due to gender-based differences in symptom presentation or referral patterns. This study investigates gender-related variations in symptom severity and clinical presentation among preschool children referred for suspected ASD.</p><p><strong>Methods: </strong>This study included 125 children (boys: n=103; girls: n=22) aged 2-5 years suspected of having ASD. The Childhood Autism Rating Scale (CARS) was used to evaluate autism-related symptoms, focusing on presenting complaints and gender-specific differences in nonverbal communication and social interaction.</p><p><strong>Results: </strong>Girls had a significantly younger median age at assessment (28 months) compared to boys (33 months, p=0.03). In the minimal to no symptoms group, girls had significantly higher total CARS scores (median 26 vs. 22.5, p < 0.001) and elevated ratings in domains such as nonverbal communication (p=0.03), relationship to people (p=0.01), imitation (p < 0.001), and visual response (p < 0.001). In the severe group, girls also showed significantly higher scores in adaptation to change, taste, smel, and touch response and use, and fear or nervousness. Effect sizes ranged from small to strong. A negative correlation was found between assessment age and total CARS score (r= -0.45, p < 0.01), particularly among girls.</p><p><strong>Conclusion: </strong>This study highlights that girls may exhibit more prominent symptoms by the time they are referred for clinical evaluation, raising concerns about missed or delayed recognition of milder symptom profiles.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"514-521"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031482","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":"An alternative approach to diagnosis and treatment of intractable paroxysmal sneezing in a child.","authors":"Ceylin Köksal, Gökçen İlçioğlu Ekici","doi":"10.24953/turkjpediatr.2025.6112","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.6112","url":null,"abstract":"<p><strong>Background: </strong>Intractable paroxysmal sneezing is a rare and diagnostically challenging condition in children, often mimicking organic diseases. While it is often addressed as psychogenic in the literature, our case presented findings suggestive of a tic disorder, highlighting the need for a broader diagnostic perspective.</p><p><strong>Case presentation: </strong>An 11-year-old girl was referred to the child and adolescent psychiatry clinic with a one-year history of persistent and fluctuating sneezing episodes. Despite comprehensive evaluations by pediatric neurology, allergy, and otolaryngology services, no significant pathology was identified. While the symptoms initially appeared psychogenic due to their onset following a school change and exacerbation during periods of heightened stress, a detailed assessment revealed findings suggestive of a tic disorder, including the fluctuating nature of the symptoms, their absence during sleep, and transient suppressibility. Partial symptomatic relief observed with metoclopramide, a dopamine antagonist, led to the initiation of risperidone therapy (0.25-0.5 mg/day), which resulted in significant clinical improvement.</p><p><strong>Conclusions: </strong>This case illustrates the complex interplay between psychogenic stressors and tic-like manifestations in pediatric intractable paroxysmal sneezing. The positive response to risperidone underscores the potential role of dopamine antagonist treatments in managing such cases. A multidisciplinary approach is crucial for accurate diagnosis and effective management, ultimately enhancing patient quality of life.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"602-606"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031548","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":"Expression and clinical correlation of cathepsin S, programmed cell death-1 ligand 1, and BRAFV600E mutation in children with Langerhans cell histiocytosis.","authors":"Yongan Ni, Shihong Shao, Yilin Wang, Lingzhen Wang, Lirong Sun","doi":"10.24953/turkjpediatr.2025.5882","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5882","url":null,"abstract":"<p><strong>Background: </strong>The expression and clinical correlation of BRAFV600E mutation and programmed cell death-1 ligand 1 (PD-L1) in children with Langerhans cell histiocytosis (LCH) have been reported, but the conclusions of previous studies are inconsistent. In addition, it has been reported that elevated cathepsin S (CTSS) expression is associated with various cancers. However, there is currently no research on the correlation between CTSS and LCH. The aim of this study was to reassess the clinical correlation of BRAFV600E mutation and PD-L1 in pediatric LCH and to investigate the expression and clinical correlation of CTSS in children with LCH.</p><p><strong>Methods: </strong>A total of 35 tissue samples were analyzed for the BRAFV600E gene mutation using droplet digital polymerase chain reaction, and 31 tissue samples were examined for CTSS and PD-L1 by immunohistochemistry. In addition, the clinical characteristics and prognosis of these 35 pediatric patients were analyzed and summarized.</p><p><strong>Results: </strong>The incidence of BRAFV600E gene mutation was 34.3% (12/35). The occurrence of BRAFV600E gene mutation was significantly associated with age ≤ 2 years and involvement of central nervous system risk sites (66.7% and 72.7%, respectively). The expression rate of PD-L1 was 35.5% (11/31), and it was significantly correlated with cutaneous involvement (100%, 3/3). PD-L1 expression was unrelated to BRAFV600E gene mutation. Neither BRAFV600E gene mutation nor PD-L1 expression had a significant impact on disease progression/reactivation and initial 6-week treatment response. CTSS was expressed positively in the lesion tissues of all 31 children with LCH. The H-scores of CTSS were significantly associated with age ≤ 2 years. CTSS had no significant effect on the initial 6-week treatment response, disease progression/reactivation, BRAFV600E gene mutation, or PD-L1 expression.</p><p><strong>Conclusions: </strong>CTSS is positively expressed in LCH, and its expression level is associated with onset age ≤ 2 years. BRAFV600E gene mutation, PD-L1, and CTSS may not be associated with the prognosis of LCH.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 4","pages":"546-558"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031657","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}