The Turkish journal of pediatrics最新文献

{"title":"A rare association of osteogenesis imperfecta and juvenile idiopathic arthritis: case reports and literature review.","authors":"Hatice Kubra Zora, Tuncay Aydin, Aslıhan Uzun Bektas, Sezgin Sahin, Ozgur Kasapcopur, Sara Sebnem Kilic","doi":"10.24953/turkjpediatr.2025.5382","DOIUrl":"10.24953/turkjpediatr.2025.5382","url":null,"abstract":"<p><strong>Background: </strong>Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. The combination of OI and inflammatory arthritis is rare. Our literature review identified 5 cases of OI-related inflammatory arthritis, but only 2 of these cases have been reported in children.</p><p><strong>Case report: </strong>We present 3 cases diagnosed with OI and juvenile idiopathic arthritis (JIA). Two were diagnosed with enthesitis-associated arthritis, and one was diagnosed with oligoarticular JIA with laboratory findings and a magnetic resonance imaging examination. Only one of the patients had a previously diagnosed OI. For the others, whole gene sequence analysis was performed, and a mutation in the collagen type I alpha 1 (COL1A1) gene was detected. Identifying and treating inflammatory arthritis in our patients with OI improved their joint pain.</p><p><strong>Conclusion: </strong>Musculoskeletal pain is a common issue in individuals with OI and JIA. Considering children with OI may also develop arthritis, early diagnosis, and accurate treatment may be crucial. Recognizing the rare association between JIA and OI is important, as investigating this relationship could help alleviate the disease burden. Thorough evaluation and prompt diagnosis of JIA in patients with OI can significantly reduce the impact of the disease.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"273-281"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228239","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":"Evaluation of clinical findings in cases of child sexual abuse.","authors":"Abdülkadir İzci, Ayşe Kurtuluş Dereli, Kemalettin Acar","doi":"10.24953/turkjpediatr.2025.5331","DOIUrl":"10.24953/turkjpediatr.2025.5331","url":null,"abstract":"<p><strong>Background: </strong>Child sexual abuse (CSA) is a severe problem with physical, emotional, social, moral, cultural, and legal dimensions, which is estimated to be quite common worldwide.</p><p><strong>Methods: </strong>In this retrospective study including 262 CSA cases admitted to our outpatient clinic between 2013 and 2022, we examine the characteristics of the victim and the abuse and examination findings in cases of CSA.</p><p><strong>Results: </strong>In our study, most of the victims were females over the age of 12, and most of the suspects were known to the child. Approximately half of the incidents (50.1%) occurred in a home. These data are essential in determining the risk factors of CSA cases and in terms of early detection and timely prevention. Vaginal penetration (40.8%) and anal penetration (32.4%) are frequently present in the history of CSA victims. A history of vaginal penetration was associated with acute and healed laceration findings in the hymen (p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"11-21"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627272","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":"Should we give priority to plasma exchange and hyperbaric oxygen treatment before deciding on amputation for severe crush injuries?","authors":"Murat Tanyıldız, Ömer Özden, Karya Şenköylü, İlker Eren, Aysu Çakar, Laşin Özbek, Aslıcan Çakkalkurt, Ilmay Bilge","doi":"10.24953/turkjpediatr.2025.4577","DOIUrl":"10.24953/turkjpediatr.2025.4577","url":null,"abstract":"<p><strong>Background: </strong>The most common medical sequelae after earthquakes are crush injuries and syndromes that require urgent and well-organized care, which further complicates the approach in the face of overstretched resources. The 2023 Kahramanmaraş earthquake, with a magnitude of 7.7, was one of the largest disasters in Türkiye, affecting 11 cities with a population of about 13.5 million people and claiming more than 50,000 deaths. Approximately 4.6 million pediatric patients were affected, with over 500 children undergoing amputations. The overwhelming number of cases rendered further treatment efforts nearly unfeasible.</p><p><strong>Cases: </strong>Here we present three cases of severe crush injuries in which amputation was initially considered in both primary and our tertiary centers but was prevented by a protocol that included therapeutic plasma exchange (TPE) and intensive hyperbaric oxygen treatments (HBOT). Based on our review of the literature, this appears to be the first case series documenting the use of therapeutic plasma exchange (TPE) in the management of crush injury.</p><p><strong>Conclusion: </strong>In extremities at risk for amputation, TPE therapy is crucial to preventing disseminated intravascular coagulation, systemic inflammatory response syndrome, and the accompanying multiorgan failure. It has been shown that extremities at risk for amputation due to poor perfusion can be managed confidently during the safe recovery period of daily TPE therapy with frequent HBOT, anticoagulant and vasodilator treatments, frequent wound care to prevent the development of infection, prophylactic antibiotics, vacuum-assisted closure therapy, and debridement when necessary.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"90-100"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627276","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":"Value of ultrasound in predicting the outcome of conservative treatment of testicular appendage torsion in children.","authors":"Dongling Wu, Chanjuan Wang, Xiuzhen Yang, Jingjing Ye, Jianhua Mao","doi":"10.24953/turkjpediatr.2025.5459","DOIUrl":"10.24953/turkjpediatr.2025.5459","url":null,"abstract":"<p><strong>Background: </strong>The treatment modalities for testicular appendage torsion in children are classified as conservative or surgical, and the choice is controversial.</p><p><strong>Objectives: </strong>This study aimed to identify ultrasound-based indicators influencing the outcome of conservative treatment in children with testicular appendage torsion to divide the boundaries between conservative and surgical management.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on testicular appendage torsion data of children from November 2022 and November 2023 in the Children's Hospital of Zhejiang University School of Medicine to compare the conservatively successful and conservatively unsuccessful groups' clinical and ultrasound characteristics. Furthermore, we constructed a logistic regression model and evaluated its predictive ability.</p><p><strong>Results: </strong>We observed 405 (88.62%) and 52 (11.38%) cases of conservative success and failure, respectively. Univariate analysis indicated significant differences between these groups in testicular appendage torsion nodule size, terminology for hydrocele, scrotal wall edema, and increased epididymal blood flow (p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"69-77"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627311","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":"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":"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":"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":"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":"Diabetes care: role of the adolescent medicine specialists.","authors":"Eylem Şerife Kalkan, Melis Pehlivantürk Kızılkan, Sinem Akgül","doi":"10.24953/turkjpediatr.2025.5578","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5578","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"288-289"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228245","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":"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}