The Turkish journal of pediatrics最新文献

{"title":"DNA damage in children with β-thalassemia minor: genotoxicity assessment by comet assay.","authors":"Deniz Menderes, Esra Emerce, Tayfun Göktaş, Gonca Çakmak, Deniz Aslan","doi":"10.24953/turkjpediatr.2025.4567","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.4567","url":null,"abstract":"<p><strong>Background: </strong>In transfusion-dependent forms of β-thalassemia, chronic anemia and iron overload lead to the development of oxidative stress-related DNA damage. In β-thalassemia minor (β-Tm), oxidative stress resulting from an unbalanced globin chain ratio has been documented, even in the absence of anemia and its complications. However, the status of oxidative stress-related DNA damage has not yet been elucidated. The aim of this study was to assess DNA damage in β-Tm in a pediatric population.</p><p><strong>Material and methods: </strong>We compared 142 children with β-Tm to 113 healthy controls, including siblings of the β-Tm individuals. The comet assay was used to assess DNA damage in peripheral blood lymphocytes. Additionally, oxidative stress markers and biochemical parameters were measured.</p><p><strong>Results: </strong>No significant differences were observed between the β-Tm group and controls in terms of demographics, biochemical parameters, or baseline oxidative stress levels (p>0.05). In the comet assay, there was no difference in tail intensity (TI) between subjects and controls, nor between siblings with and without β-Tm (p=0.551 and p=0.655, respectively). However, when the β-Tm group was divided by age, a gradual increase in DNA damage, as measured by TI, was observed. This increase was more pronounced in the β-Tm group compared to controls.</p><p><strong>Conclusion: </strong>We observed no significant differences in DNA damage between β-Tm individuals and controls. However, TI increased at a faster rate with age in carriers compared to non-carriers, suggesting that environmental factors might exert a more pronounced influence on the genetic integrity of individuals with a β-Tm background. Although β-Tm itself does not seem to pose a substantial genotoxic risk in childhood, our findings underscore the importance of further research into the interplay between β-Tm and other risk factors throughout life. We advocate for long-term monitoring of β-Tm children to assess the health and potential genetic consequences.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"39-50"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627147","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":"Three locally invasive infantile fibrosarcoma cases treated with larotrectinib.","authors":"Hikmet Gülşah Tanyıldız, Yasin Yılmaz, Doğa Dalay, Şifa Şahin, Serap Karaman, Ayşegül Ünüvar, Zeynep Karakaş, Deniz Tuğcu","doi":"10.24953/turkjpediatr.2025.4557","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.4557","url":null,"abstract":"<p><strong>Background: </strong>Infantile fibrosarcoma is a rapidly growing soft tissue tumor, often managed by surgical resection, with chemotherapy and radiotherapy as additional options. Due to the high local aggressiveness and surgical morbidity, targeted therapies like larotrectinib can enhance quality of life and preserve organs, particularly in limb-threatening cases. Here, we present three cases where larotrectinib prevented mutilating surgeries.</p><p><strong>Cases: </strong>The first patient presented antenatally with a 75 x 48 mm oral floor mass, severely narrowing the airway. Surgery was unfeasible due to invasion of vital organs, and complications arose with conventional chemotherapy. Following detection of an ETV6-NTRK3 fusion, larotrectinib was initiated, resulting in complete regression after two years. The second patient had a 42 x 37 mm right-hand tumor confirmed as infantile fibrosarcoma, for which initial treatment suggested amputation. After identifying an ETV6-NTRK3 fusion and failing to respond to chemotherapy, larotrectinib led to significant regression by year two, preserving hand function. The third patient presented with a 56 x 55 mm right foot mass at birth. Chemotherapy proved ineffective, and larotrectinib was initiated due to an ETV6-NTRK fusion signal, ultimately achieving near total regression within one year and avoiding amputation. All three cases demonstrated successful outcomes with targeted therapy.</p><p><strong>Conclusions: </strong>These cases emphasize the importance of advanced molecular studies, like next-generation sequencing, for childhood tumors and integrating research with clinical trials. tropomyosin receptor kinase inhibitor larotrectinib may offer a safe and effective alternative to chemotherapy for NTRK fusion-positive, metastatic, or unresectable tumors.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"109-116"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627293","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":"Acute promyelocytic leukemia presenting as isolated femoral granulocytic sarcoma.","authors":"Ayşe Şimşek, Hüseyin Tokgöz, Ümran Çalışkan","doi":"10.24953/turkjpediatr.2025.4583","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.4583","url":null,"abstract":"<p><strong>Background: </strong>Granulocytic sarcoma (GS), or myeloid sarcoma or chloroma, is a tumoral mass containing myeloblasts and immature granulocytes in an anatomic site other than the bone marrow. GS is very rare in children with acute promyelocytic leukemia (APL). This case report presents a rare case of GS manifesting as a solitary bone mass.</p><p><strong>Case: </strong>A 15-year-old female presented with left knee pain. Complete blood count and biochemistry were normal. No blasts or early granulocytic elements were observed in the peripheral blood smear. Magnetic resonance imaging (MRI) revealed a 4x4-cm solid lesion extending to the physis line in the distal metaphyseal section of the left femur. A Tru-cut biopsy of the mass confirmed GS with immature promyelocytic cell infiltration containing Auer rods and immature myeloid cells. The t(15;17) mutation was highly positive in the tissue suspension. Bone marrow aspiration performed afterward showed no abnormalities, and acute myeloid leukemia and acute lymphoblastic leukemia mutation panels were negative. The patient was diagnosed as having APL presenting as GS of isolated femoral origin. Treatment with standard-risk chemotherapy, including all-trans retinoic acid (ATRA) according to the BFM 2013 protocol, was initiated. After 2 months, a repeat biopsy showed no pathologic promyelocytic infiltration and a negative t(15;17) mutation. However, the patient died of severe neutropenia, sepsis, and typhoid fever.</p><p><strong>Conclusion: </strong>This case contributes to the literature as a rare presentation of APL as isolated femoral GS. It is the first reported case of an isolated femoral mass in this context to the best of our knowledge.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"117-122"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626984","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":"Adolescent medicine in the first 100 years of the Republic of Türkiye.","authors":"Eylem Şerife Kalkan, Melis Pehlivantürk Kızılkan, Sinem Akgül","doi":"10.24953/turkjpediatr.2025.5574","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5574","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"129-132"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627074","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":"Drug-induced enterocolitis syndrome in children: report of two cases and a literature review.","authors":"Murat Özer, Erhan Bahadır, Bahri Can Duran, Caner Aytekin, Serap Özmen","doi":"10.24953/turkjpediatr.2025.5461","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5461","url":null,"abstract":"<p><strong>Background: </strong>Drug-induced enterocolitis syndrome (DIES) is a recently defined clinical entity, first described in 2014. DIES is a hypersensitivity reaction with non-IgE mechanisms involving the gastrointestinal tract, occurring 1 to 4 hours after drug ingestion. Antibiotics are most commonly responsible, particularly amoxicillin or amoxicillin / clavulanic acid (AMX/CL). The main criterion is recurrent, often uncontrollable vomiting occurring 1-4 hours after drug ingestion, without classic IgE-mediated allergic symptoms such as cutaneous or respiratory reactions. To the best of our knowledge, 10 pediatric cases of DIES have been described in the literature.</p><p><strong>Case presentations: </strong>A 4-year-old male and a 14-year-old male presented to our pediatric allergy clinic with a suspected hypersensitivity reaction to AMX/CL, and their specific IgE tests for penicillin G and penicillin V were negative. The younger patient was also tested for specific IgE against amoxicillin and ampicillin, which were also negative. Skin prick tests and intradermal test with AMX/CL were negative in both patients, but oral provocation testing with AMX/CL resulted in abdominal pain, vomiting and lethargy, confirming the diagnosis of DIES.</p><p><strong>Conclusions: </strong>DIES should be considered in patients presenting with vomiting and lethargy following drug ingestion, particularly when IgE-mediated allergies have been ruled out. Early recognition and appropriate management, including drug provocation testing in a controlled setting, are crucial to ensure optimal patient outcomes. By presenting these two rare cases, we aim to raise awareness and deepen the understanding of DIES among healthcare professionals, which could contribute to earlier diagnosis and better patient outcomes.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"101-108"},"PeriodicalIF":0.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627221","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":"Author Correction to: \"Disseminated cryptococcosis in a child with liver transplantation: a case report.\" [Turk J Pediatr 2024; 66: 499-504.].","authors":"Doğan Barut, Bora Kunay, Sema Yıldırım Arslan, Ayça Aydın Uysal, Zümrüt Şahbudak Bal, Pınar Yazıcı, Miray Karakoyun, Sema Aydoğdu","doi":"10.24953/turkjpediatr.2025.5892","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5892","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"133"},"PeriodicalIF":0.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627089","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":"Polyarteritis nodosa with life-threatening intracranial aneurysms in a child, and treatment with infliximab.","authors":"Sıla Atamyıldız Uçar, Mustafa Demir, Betül Sözeri","doi":"10.24953/turkjpediatr.2024.4544","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4544","url":null,"abstract":"<p><strong>Background: </strong>Polyarteritis nodosa (PAN) is a rare and serious form of systemic necrotizing vasculitis that predominantly affects medium and small-sized arteries, with central nervous system involvement being particularly uncommon. Treatment strategies are tailored according to the extent and severity of the disease. While conventional therapy includes glucocorticoids and conventional disease-modifying-rheumatic drugs (cDMARDs), biologic agents may be critical for severe and refractory cases.</p><p><strong>Case: </strong>We report a case of systemic PAN in a 7-year-old girl with no prior medical history, who presented with fever, abdominal pain, and altered mental status. Initial investigations with cranial MRI and echocardiography suggested encephalitis and myocarditis, respectively. Positive SARS-CoV-2 antibodies in both cerebrospinal fluid and serum oriented the diagnosis towards multisystem inflammatory syndrome in children. Despite intensive conventional therapies with glucocorticoids, cDMARDs, and intravenous immunoglobulins, the patient's condition deteriorated. Elevated von Willebrand factor levels, hypertension, and proteinuria emerged, along with stable intracranial hemorrhage and abdominal organ infarctions on imaging, leading to the diagnosis of PAN. Cyclophosphamide was added to the treatment regimen. Three cranial aneurysms were identified on selective conventional cranial angiography. Following angiography, severe intraparenchymal bleeding was detected, leading to emergency cranial surgery. Unresponsiveness to conventional therapeutics led to treatment escalation with a tumor necrosis factor inhibitor, infliximab, resulting in clinical stabilization and allowing for successful endovascular coil embolization.</p><p><strong>Conclusion: </strong>This case highlights the importance of considering a tumor necrosis factor inhibitor, infliximab, in severe PAN with involvement of intracranial aneurysm.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"801-808"},"PeriodicalIF":0.0,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981046","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 outcome of functional constipation in Saudi children.","authors":"Mohammad El Mouzan, Hayfa Alabdulkarim, Mohammed Kambal, Nawaf Alshammary, Rehab Alanazi, Shaffi Ahamed, Nouf Alhamid, Ahmed Al Sarkhy, Alhanouf Alzahrani, Asaad Assiri","doi":"10.24953/turkjpediatr.2024.5286","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5286","url":null,"abstract":"<p><strong>Background: </strong>Understanding the outcome of functional constipation (FC) for both patients and physicians is essential, yet it has been infrequently reported worldwide. The objective of this report was to update the outcomes of FC in Saudi children.</p><p><strong>Methods: </strong>Clinical data including age, sex, response to management, duration of follow up, and type of management were collected from the notes of each clinic visits and phone call follow-ups.</p><p><strong>Results: </strong>The study included 268 children followed up for a 7 year duration. The median age of onset was 4 (0.1 to 13) years, and 123/268 (46%) were male. There was an increasing recovery rate with increasing duration of follow up with an overall recovery rate of 79%. There was no significant association between recovery and age at onset (p=0.0860) or duration of constipation (P=0.124). Management by pediatric gastroenterologists did not increase rate of recovery (81% vs. 77%, p=0.432) or being cured (47% vs. 36%, p=0.108) significantly. According to the parents of children who recovered, diet in association with polyethylene glycol (PEG) and toilet training were most helpful. Poor diet and nonadherence to medications were the most common causes of lack of recovery.</p><p><strong>Conclusions: </strong>The higher rates of recovery in this Middle Eastern childhood population than other populations are possibly related to cultural characteristics. The parents' views support the importance of diet associated with other modalities as important parts of management.  Further research is needed to identify correctable causes of nonadherence to treatment to improve recovery.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"713-718"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980988","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":"Elevated visfatin levels illuminate the inflammatory path in bronchopulmonary dysplasia.","authors":"Berna Hoti, Gizem Özcan, Nazan Çobanoğlu, Seda Topçu, Filiz Bakar Ateş","doi":"10.24953/turkjpediatr.2024.5150","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5150","url":null,"abstract":"<p><strong>Background: </strong>Bronchopulmonary dysplasia (BPD) is a chronic lung disease in premature infants caused by an imbalance between lung injury and lung repair in the developing immature lungs of the newborn. Pulmonary inflammation is an important feature in the pathogenesis of BPD. The aim of this study was to evaluate the relationship between the inflammatory microenvironment and the levels of visfatin and nesfatin-1, which are among the new adipocytokines, in BPD patients.</p><p><strong>Methods: </strong>The groups consisted of 30 patients with BPD and 30 healthy children. Plasma levels of visfatin and nesfatin-1 and inflammation-related markers including interleukin-4 (IL-4), interleukin-10 (IL-10), nuclear factor kappa B (Nf-κB) and matrix metalloproteinase-9 (MMP-9) were determined by enzyme-linked immunosorbent assay (ELISA). RT-PCR was performed to evaluate the change in mRNA expression of visfatin and nesfatin-1 in the groups.</p><p><strong>Results: </strong>Visfatin levels were significantly higher in the BPD group compared to the healthy control (7.05±4.07 ng/ml vs. 2.13±1.66 ng/ml, p<0.0001). There was a 1.36±0.12 fold increase in visfatin mRNA expression (p<0.05) in the BPD group. There was no significant difference in plasma levels of nesfatin-1, IL-4, and IL-10 between the groups. Although MMP-9 and Nf-κB levels were significantly higher in the BPD group (p<0.0001), there was no correlation between visfatin levels and MMP-9 and Nf-κB levels in BPD patients.</p><p><strong>Conclusions: </strong>This study showed that significant changes in visfatin levels in BPD patients might be associated with the risk of developing inflammation in BPD.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"673-680"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980967","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":"Role of serum procalcitonin in differentiating disease flare and systemic bacterial infection among febrile children with known chronic rheumatic diseases: a cross-sectional study.","authors":"Srinanda Majumder, Madhumita Nandi, Sayantan Mondal, Sandipan Sen","doi":"10.24953/turkjpediatr.2024.4889","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4889","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the role of serum procalcitonin (PCT) as a diagnostic tool to differentiate bacterial sepsis from flare-ups during febrile episodes in children with known rheumatic disorders compared to other inflammatory markers like C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR).</p><p><strong>Methods: </strong>Previously diagnosed patients with known rheumatic disorders presenting in emergency or outpatient departments with febrile episodes were included in the study. Blood samples were collected upon admission to test for signs of infection, including serum PCT levels with routine laboratory and radiological tests. Patients with juvenile idiopathic arthritis (JIA) and systemic lupus erythematosus (SLE) were stratified using the Juvenile Arthritis Disease Activity Score (JADAS-27) and SLE Disease Activity Index (SLEDAI) respectively. Patients without bacterial focus with high disease activity were included in the flare-up group and the rest in the sepsis cohort. The diagnostic value of PCT was calculated using receiver operating characteristic (ROC) curve analysis.</p><p><strong>Results: </strong>In the study (N=73), 41 (56.2%) patients were previously diagnosed with JIA and 28 (38.3%) had SLE. 38 patients had definite evidence of sepsis and 35 had disease flare-ups as per respective disease activity scores. There was a significant difference in PCT and CRP among the flare-up and sepsis groups. For detecting sepsis, the area under curve (0.959), sensitivity (94.7%), and specificity (74.3%) of PCT at a cut-off of 0.275 ng/mL were significantly better than those of CRP.</p><p><strong>Conclusion: </strong>PCT is a better diagnostic test than CRP or ESR during febrile episodes in differentiating flare-ups from infection and PCT >0.275 ng/mL indicates bacterial infection with good specificity and sensitivity in children with low disease activity.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"681-689"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981052","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}