The Turkish journal of pediatrics最新文献

{"title":"Rippling muscle disease due to a <i>CAV3</i> mutation with myocarditis-like presentation in an adolescent.","authors":"Damla Gökçeer Akbulut, Helen Bornaun, Hatice Dörtler, Gülseren Erkoca Göktolga, Sinan Akbaş, Mustafa Doğan","doi":"10.24953/turkjpediatr.2026.7755","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.7755","url":null,"abstract":"<p><strong>Background: </strong>This case report describes a rare presentation of rippling muscle disease (RMD) due to a pathogenic CAV3 variant, manifesting with myocarditis-like cardiac involvement in an adolescent patient. To the best of our knowledge, this represents an exceedingly rare pediatric case of RMD associated with clinically significant cardiac findings.</p><p><strong>Case presentation: </strong>A previously healthy 15-year-old male adolescent presented with vomiting and markedly elevated creatine kinase and troponin levels, raising suspicion of acute myocarditis. Cardiac magnetic resonance imaging (MRI) demonstrated non-ischemic myocardial fibrosis, and genetic testing identified a pathogenic de novo variant in the CAV3 gene consistent with rippling muscle disease.</p><p><strong>Conclusions: </strong>This case highlights the potential for myocarditis-like cardiac involvement in caveolin-3-related rippling muscle disease and underscores the importance of considering underlying genetic myopathies in adolescents presenting with unexplained elevations of serum creatine kinase (hyperCKemia) and cardiac biomarkers.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"495-500"},"PeriodicalIF":0.0,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586450","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":"Clarifying the statistical reporting in the multivariate analysis of retinopathy of prematurity biomarkers.","authors":"Kazım Okan Dolu","doi":"10.24953/turkjpediatr.2026.7960","DOIUrl":"10.24953/turkjpediatr.2026.7960","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"547-548"},"PeriodicalIF":0.0,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586494","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 impact of intraoperative peritoneal fluid cultures on empirical antibiotic therapy and postoperative complications in pediatric perforated appendicitis.","authors":"Mehmet Gazi Öztürk, Musa Abeş, Mehmet Saraç, Mehmet Selim Albayrak, Hasan Öğünç Apaydın, Mehmet Göksu, Muhammed İkbal Yetiş, Sadık Akgün","doi":"10.24953/turkjpediatr.2026.6520","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.6520","url":null,"abstract":"<p><strong>Background: </strong>This study retrospectively evaluates the microbiological profile, antibiotic susceptibility patterns, and the effectiveness of empirically initiated antibiotic therapies in children with perforated appendicitis, based on intraoperative peritoneal fluid culture and antibiogram results.</p><p><strong>Methods: </strong>A total of 154 pediatric patients (97 boys, 57 girls; mean age 9.15 ± 4.08 years) underwent surgery for perforated appendicitis between 2014 and 2020. Before surgery, patients received one of three empirical antibiotic combinations: (1) Ampicillin/sulbactam, metronidazole, and amikacin; (2) ceftriaxone and metronidazole; (3) cefotaxime and metronidazole. Peritoneal fluid samples collected intraoperatively were cultured, and microbial growth and susceptibility profiles were analyzed.</p><p><strong>Results: </strong>A total of 167 strains were isolated. The most common microorganisms were Escherichia coli (79.0%), Pseudomonas aeruginosa (13.8%), Klebsiella pneumoniae (2.4%), Enterobacter cloacae (1.8%), Enterococcus raffinosus (2.4%), and Staphylococcus hominis (0.6%). Before surgery, Combination 1 was administered to 97 patients (63.0%), Combination 2 to 38 patients (24.7%), and Combination 3 to 19 patients (12.3%). Antibiotic susceptibility of the isolated microorganisms was as follows. E. coli: ampicillin/sulbactam 23%, ceftriaxone 60%, cefotaxime 92%, amikacin 99%. P. aeruginosa: ampicillin/sulbactam 8%, ceftriaxone 16%, cefotaxime 0%, amikacin 99%. K. pneumoniae: ceftriaxone 75%, cefotaxime 75%, amikacin 100%. E. raffinosus: ceftriaxone 33%, cefotaxime 100%, amikacin 100%. Postoperative modification of empirical therapy was required in 102 cases (66.2%) Conclusions. High resistance rates to commonly used empirical antibiotics were observed among isolated microorganisms, highlighting the need for regular revision of empirical treatment protocols and greater reliance on intraoperative culture results in pediatric perforated appendicitis.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"485-494"},"PeriodicalIF":0.0,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586457","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":"Bridging the gap: knowledge deficits and adherence challenges in adolescents with congenital heart disease.","authors":"Elif Yağmur Kaymaz, Sinem Akgül, Melis Pehlivantürk Kızılkan, İlker Ertuğrul, Hakan Hayrettin Aykan, Erdem Karabulut, Tevfik Karagöz, Orhan Derman","doi":"10.24953/turkjpediatr.2026.6723","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.6723","url":null,"abstract":"<p><strong>Background: </strong>Although approximately 90% of children with congenital heart disease (CHD) survive into adulthood, many lack sufficient knowledge about their condition and the need for life-long care. This leads to gaps in follow-up, especially during transition to adulthood, nonadherence to treatment, and increased risk of complications. This study aimed to assess CHD-related knowledge and adherence among adolescents.</p><p><strong>Method: </strong>The Leuven Knowledge Questionnaire for Congenital Heart Disease (LKQCHD) was translated and validated into Turkish to evaluate CHD-related knowledge, including treatments, endocarditis, pregnancy risks, appropriate contraceptive methods, and the risk of recurrence. Adequate disease knowledge was defined as answering ≥80% of questions correctly. The Medication Adherence Reporting Scale (MARS) was used to assess medication adherence.</p><p><strong>Results: </strong>Among 118 adolescents, only two had adequate knowledge (≥80% correct), with a mean LKQCHD score of 51.09/100. Older adolescents and those with higher adherence had significantly better knowledge. The poorest knowledge areas were endocarditis and reproductive health.</p><p><strong>Conclusion: </strong>The insufficient disease knowledge among CHD patients may lead to poor adherence and increased comorbidities, and higher mortality in adulthood. We recommend implementing a structured education and transition program focused on improving health literacy, adherence, and continuity of care, developed collaboratively by cardiologists and adolescent medicine specialists.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"401-415"},"PeriodicalIF":0.0,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586444","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":"From osteolytic lesions to hungry bone syndrome: a rare case of primary hyperparathyroidism in childhood.","authors":"Ahmet Fatih Yılmaz, Muammer Büyükinan, Fatma Özgüç Çömlek, Nurdan Çiftçi, İlhan Çiftçi, Mehmet Öztürk","doi":"10.24953/turkjpediatr.2026.7198","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.7198","url":null,"abstract":"<p><strong>Background: </strong>Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in childhood, most commonly associated with a single parathyroid adenoma. Compared to adults, pediatric cases often present with more pronounced clinical manifestations and may lead to severe skeletal complications. This report presents a symptomatic case of PHPT complicated by extensive skeletal involvement, brown tumors, and postoperative hungry bone syndrome (HBS).</p><p><strong>Case presentation: </strong>A 16-year-old female was admitted with progressive leg pain and weight loss. Laboratory evaluation revealed marked hypercalcemia, severely elevated parathyroid hormone, hypophosphatemia, and vitamin D deficiency. Imaging findings were consistent with a parathyroid adenoma; however, the initial surgical attempt failed to localize the adenoma. Subsequent advanced imaging with four-dimensional computed tomography (4D-CT) and interventional radiology-guided localization enabled successful resection. Postoperatively, the patient developed profound and prolonged hypocalcemia with concomitant hypophosphatemia and hypomagnesemia, consistent with HBS, requiring intensive intravenous and oral calcium, calcitriol, phosphate, and magnesium replacement. Radiological and histopathological evaluations demonstrated diffuse skeletal involvement with multiple brown tumors.</p><p><strong>Conclusions: </strong>This case highlights that although rare, PHPT should be considered in the differential diagnosis of children presenting with refractory bone pain and hypercalcemia. Accurate preoperative localization of parathyroid adenomas requires advanced imaging techniques and a multidisciplinary approach. Furthermore, in patients with markedly elevated parathyroid hormone and alkaline phosphatase levels, vitamin D deficiency, and long-standing skeletal involvement, the risk of developing HBS should be anticipated and management strategies tailored accordingly.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"522-529"},"PeriodicalIF":0.0,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586487","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":"A rare case of bilateral axillary accessory breast tissue coexisting with prolactinoma in an adolescent girl.","authors":"Tuğba Kontbay Çetin, Serap Samut Bülbül","doi":"10.24953/turkjpediatr.2026.7378","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.7378","url":null,"abstract":"<p><strong>Background: </strong>Unlike polythelia, which is typically identified at birth by the presence of an areola or nipple, accessory axillary breast tissue is rarely observed in children and adolescents. Nevertheless, it can affect this age group and should be considered in the differential diagnosis of an axillary mass.</p><p><strong>Case presentation: </strong>A 15-year-old girl with a diagnosed prolactinoma, receiving cabergoline treatment, presented with a week's history of tender, bilateral axillary masses. Ultrasonographic evaluation and subsequent surgical excision confirmed the diagnosis of bilateral accessory axillary breast tissue. To the best of our knowledge, this is the first reported case of co-existing bilateral accessory axillary breast tissue and prolactinoma in an adolescent girl.</p><p><strong>Conclusion: </strong>This case highlights the importance of thorough physical examination in adolescents with prolactinomas. Accessory breast tissue may become more prominent during puberty or in hyperprolactinemic states, and it may be misdiagnosed. Recognizing this rare occurrence is key to avoiding unnecessary investigations or interventions.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"515-521"},"PeriodicalIF":0.0,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586516","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":"Rethinking gender differences in social media-related eating behaviors.","authors":"Demet Aygün Arı","doi":"10.24953/turkjpediatr.2026.8504","DOIUrl":"10.24953/turkjpediatr.2026.8504","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"551-552"},"PeriodicalIF":0.0,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586543","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":"Factors affecting distal femoral cartilage in healthy adolescents: a cross-sectional ultrasonographic study.","authors":"Pınar Özge Avar Aydın, Esra Gizem Koyuncu, Nuray Arda, Levent Özçakar","doi":"10.24953/turkjpediatr.2026.5631","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.5631","url":null,"abstract":"<p><strong>Background: </strong>Distal femoral cartilage is the most commonly deteriorated articular cartilage during metabolic and inflammatory processes. Musculoskeletal ultrasound (MSUS) is a widely accessible imaging modality to assess distal femoral cartilage thickness (DFCT). This study aims to explore DFCT and associated factors in healthy adolescents.</p><p><strong>Methods: </strong>Healthy adolescents aged between 12-18 years were eligible for the study. The central points of the medial and lateral femoral condyles and the intercondylar area were measured on bilateral knees by using B-mode MSUS according to a predefined scanning protocol. The average of DFCT measurements was evaluated according to age, sex, anthropometric measurements, exercise habits, and vitamin D levels.</p><p><strong>Results: </strong>A total of 150 adolescents participated in the study, with a mean age of 15 year; 67% were female. Age and sex were two factors showing significant effects on mean DFCT (p≤0.001). A negative mild correlation was observed between age and mean DFCT (r=-0.252, p=0.002). Weight, height, body mass index, and exercise frequency were not related to DFCT. Participants with severe vitamin D deficiency had similar DFCT when compared with others, and no correlation was observed between their levels (r=0.109, p=0.191).</p><p><strong>Conclusion: </strong>DFCT varies during adolescence, with age and sex identified as the primary associated factors. Anthropometric measurements, exercise frequency, and vitamin D levels did not show any effect on DFCT in healthy adolescents.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"393-400"},"PeriodicalIF":0.0,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586530","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":"A rare cause of congenital diarrhea: a homozygous <i>AGR2</i> frameshift variant in an infant.","authors":"Melike Arslan, Hayriye Nermin Keçeci, Anna Carina Ergani, Ethem Ömeroğlu, Hanife Tuğçe Çağlar","doi":"10.24953/turkjpediatr.2026.7693","DOIUrl":"10.24953/turkjpediatr.2026.7693","url":null,"abstract":"<p><strong>Background: </strong>Congenital diarrheal disorders and enteropathies (CODE) are rare genetic conditions presenting with severe diarrhea and growth failure beginning in infancy. Biallelic variants in the anterior gradient 2 (AGR2) gene have recently been associated with a cystic fibrosis-like disorder characterized by multisystem involvement, including gastrointestinal and respiratory manifestations.</p><p><strong>Case presentation: </strong>We report a male infant born to consanguineous parents, who presented with severe congenital secretory diarrhea starting in the neonatal period, failure to thrive, dehydration, and metabolic acidosis. The diarrhea was refractory to bowel rest, suggesting a secretory mechanism. Stool studies, fecal elastase, sweat chloride testing, and CFTR gene analysis were normal. Endoscopic evaluation revealed antral gastritis, bulbitis, and duodenitis, with duodenal biopsies showing villous flattening. The patient developed recurrent hyponatremia requiring prolonged oral sodium supplementation and experienced a single episode of bronchiolitis, which may represent either a possible early respiratory manifestation or a coincidental common infantile infection. Whole exome sequencing identified a homozygous frameshift variant in the AGR2 gene (c.247_250del; p.His83ValfsTer4), and parental testing confirmed autosomal recessive inheritance.</p><p><strong>Conclusion: </strong>This case expands the clinical spectrum of AGR2-related disease by highlighting a predominantly gastrointestinal presentation with severe congenital secretory diarrhea, failure to thrive, electrolyte imbalance, and a possible early respiratory manifestation. Given the rarity of this condition, AGR2 deficiency may be considered in selected infants presenting with severe congenital diarrhea and failure to thrive, particularly in the setting of consanguinity, even in the absence of definite pulmonary involvement.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"530-538"},"PeriodicalIF":0.0,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586491","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: \"Predictive value of serum hsa_circ_0061346, hsa_circ_0000095, and hsa_circ_0068606 expression levels on the severity of retinopathy of prematurity.\" [Turk J Pediatr 2025; 67: 798-807.].","authors":"Chenglv Liu, Lijie Dong, Qiaoling Yang, Lang Bai","doi":"10.24953/turkjpediatr.2026.8926","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2026.8926","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"68 3","pages":"553"},"PeriodicalIF":0.0,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586473","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}