The Turkish journal of pediatrics最新文献

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Tension gastrothorax in late-presenting congenital diaphragmatic hernia: a diagnostic dilemma. 晚期先天性膈疝的紧张性胃胸:一个诊断难题。
The Turkish journal of pediatrics Pub Date : 2025-05-02 DOI: 10.24953/turkjpediatr.2025.5329
Sofija Cvejic, Ivana Dasic, Nenad Zdujic, Sanja Sindjic Antunovic, Dejan Nikolic, Polina Pavicevic
{"title":"Tension gastrothorax in late-presenting congenital diaphragmatic hernia: a diagnostic dilemma.","authors":"Sofija Cvejic, Ivana Dasic, Nenad Zdujic, Sanja Sindjic Antunovic, Dejan Nikolic, Polina Pavicevic","doi":"10.24953/turkjpediatr.2025.5329","DOIUrl":"10.24953/turkjpediatr.2025.5329","url":null,"abstract":"<p><strong>Background: </strong>Tension gastrothorax is a rare life-threatening condition that occurs when the stomach is herniated into the thoracic cavity, most often through the congenital left posterolateral diaphragmatic defect, causing a mediastinal shift when distended with gas and fluid.</p><p><strong>Case presentation: </strong>A previously healthy 2-year-old boy was admitted with acute abdominal pain, vomiting and dyspnea. Chest X-ray was initially interpreted as hydropneumothorax, but after careful observation the decision was made to insert a nasogastric tube and to perform a computerized tomography scan to confirm the suspicion of tension gastrothorax. Laparotomy was performed the following day, organs were repositioned into the abdomen and reconstruction of the left hemidiaphragm was conducted.</p><p><strong>Conclusion: </strong>When symptoms of respiratory distress occur in an otherwise healthy child, tension gastrothorax should be on the list of differential diagnosis. It is important to recognize distinct radiographic features of this life-threatening condition in order to promptly manage it. Initial placement of nasogastric tube for decompression should be followed by the reduction of the organs into the abdomen and diaphragmatic repair.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"254-258"},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228195","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}
引用次数: 0
Improving linear discriminant analysis effect size analysis to enhance its reliability in small sample sizes. 改进线性判别分析效应量分析,提高其在小样本量下的可靠性。
The Turkish journal of pediatrics Pub Date : 2025-04-30 DOI: 10.24953/turkjpediatr.2025.5889
Shuang Pang
{"title":"Improving linear discriminant analysis effect size analysis to enhance its reliability in small sample sizes.","authors":"Shuang Pang","doi":"10.24953/turkjpediatr.2025.5889","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2025.5889","url":null,"abstract":"","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"290-291"},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228192","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}
引用次数: 0
Inflammatory myofibroblastic tumors in children: clinical characteristics and treatment outcomes with a focus on targeted therapies. 儿童炎性肌纤维母细胞瘤:临床特征和治疗效果,重点关注靶向疗法。
The Turkish journal of pediatrics Pub Date : 2025-02-27 DOI: 10.24953/turkjpediatr.2025.5463
Ülkü Miray Yıldırım, Rejin Kebudi, Bülent Zülfikar, Bilge Bilgiç
{"title":"Inflammatory myofibroblastic tumors in children: clinical characteristics and treatment outcomes with a focus on targeted therapies.","authors":"Ülkü Miray Yıldırım, Rejin Kebudi, Bülent Zülfikar, Bilge Bilgiç","doi":"10.24953/turkjpediatr.2025.5463","DOIUrl":"10.24953/turkjpediatr.2025.5463","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myofibroblastic tumors (IMTs) are rare neoplasms in children. Traditionally, surgical resection has been the primary treatment modality with limited efficacy reported for conventional chemotherapy and radiation therapy. Recently, targeted therapies have emerged as potential options for selected cases. This study aimed to evaluate the demographic, clinical, laboratory, and radiological characteristics, as well as treatment outcomes, in children diagnosed with IMTs.</p><p><strong>Methods: </strong>This study involved a retrospective review of medical records for eight children diagnosed with IMTs between 1990 and 2022. We collected demographic, clinical, laboratory, and radiological data, as well as treatment outcomes. Data on tumor characteristics, surgical procedures, and chemotherapy or targeted therapy treatments were extracted.</p><p><strong>Results: </strong>The mean age at diagnosis was 9 years. None presented with metastatic disease at the time of diagnosis. Anaplastic lymphoma kinase (ALK) positivity was identified in tumor tissue from five patients. Among the six patients who underwent surgical resection, three achieved negative surgical margins. Of the three patients with positive surgical margins, one underwent re-resection, local and metastatic recurrences were noted in another, and one was started on crizotinib. A patient with an inoperable tumor at diagnosis was initiated on crizotinib and achieved complete remission. Ceritinib was administered to a patient with YWHAE-ROS fusion, resulting in more than 90% reduction in tumor volume. The median follow-up time was 67.5 months. The five-year overall survival and event-free survival rates for the cohort were 85.7% and 72.9%, respectively.</p><p><strong>Conclusions: </strong>While surgical resection remains the cornerstone of treatment for IMTs, favorable outcomes can be achieved with chemotherapy and targeted therapies in selected cases. Increasing the utilization of targeted therapies may be beneficial, particularly through molecular studies aimed at minimizing the side effects associated with conventional chemotherapy.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"51-60"},"PeriodicalIF":0.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627273","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}
引用次数: 0
Surface triggering receptor expressed on myeloid cells-1 (sTREM1) in critically ill children: a prospective observational controlled study. 危重儿童骨髓细胞表面触发受体表达-1 (sTREM1):一项前瞻性观察对照研究
The Turkish journal of pediatrics Pub Date : 2025-02-27 DOI: 10.24953/turkjpediatr.2025.5219
Elsaeed Rashad Fouda, Sara Hosny Abd Elghany, Thoria Ahmed Omar, Alyaa Ahdy Abdelaziz
{"title":"Surface triggering receptor expressed on myeloid cells-1 (sTREM1) in critically ill children: a prospective observational controlled study.","authors":"Elsaeed Rashad Fouda, Sara Hosny Abd Elghany, Thoria Ahmed Omar, Alyaa Ahdy Abdelaziz","doi":"10.24953/turkjpediatr.2025.5219","DOIUrl":"10.24953/turkjpediatr.2025.5219","url":null,"abstract":"<p><strong>Background: </strong>In children admitted to the pediatric intensive care unit (PICU), early detection of risk factors and alarming indicators improves the prognosis and may even save lives. Several prognostic markers and scores have been studied in children who are seriously ill. Recently, surface triggering receptor expressed on myeloid cells-1 (sTREM1) has been studied in many infectious and non-infectious settings; however, there is little information on critically ill children. Our aim is to evaluate the sTREM1 level in critically ill children and assess its prognostic role.</p><p><strong>Method: </strong>A prospective observational study was conducted in a tertiary care hospital. 70 critically ill children and 50 healthy controls were enrolled in the study. Demographic, clinical, and laboratory data were obtained. sTREM1 level was assessed on admission to the PICU. Patients with conditions affecting immunity were excluded. The primary outcome was to assess the level of sTREM1 in both patients and controls. Secondary outcomes were mortality, morbidities as sepsis, need for mechanical ventilation, and PICU stay.</p><p><strong>Results: </strong>The level of sTREM1 was significantly higher in patients than in controls (850 pg/mL, interquartile range [IQR] 510.0- 1375.0 vs. 67.5 pg/mL, IQR 40.0- 85.0; p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627277","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}
引用次数: 0
Treatment of systemic juvenile idiopathic arthritis: conventional treatment versus biologics. 系统性青少年特发性关节炎的治疗:常规治疗与生物制剂。
The Turkish journal of pediatrics Pub Date : 2025-02-27 DOI: 10.24953/turkjpediatr.2025.5482
Seher Şener, Ezgi Deniz Batu, Özge Başaran, Zeynep Balık, Emil Aliyev, Yağmur Bayındır, Veysel Çam, Yelda Bilginer, Seza Özen
{"title":"Treatment of systemic juvenile idiopathic arthritis: conventional treatment versus biologics.","authors":"Seher Şener, Ezgi Deniz Batu, Özge Başaran, Zeynep Balık, Emil Aliyev, Yağmur Bayındır, Veysel Çam, Yelda Bilginer, Seza Özen","doi":"10.24953/turkjpediatr.2025.5482","DOIUrl":"10.24953/turkjpediatr.2025.5482","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to identify and compare systemic juvenile idiopathic arthritis (sJIA) patients receiving treatment with either glucocorticoids and/or conventional synthetic disease-modifying anti-rheumatic drugs (csDMARDs) or biologic drugs.</p><p><strong>Methods: </strong>This was a retrospective cross-sectional study. sJIA patients (n=138) were categorized into two groups: Group A (n=51) consisted of individuals who received only glucocorticoids and/or csDMARDs, while Group B (n=87) included those who received at least one biologic drug.</p><p><strong>Results: </strong>Group B patients exhibited a higher prevalence of macrophage activation syndrome (MAS) (p=0.001) at presentation. C-reactive protein (CRP) levels and systemic Juvenile Arthritis Disease Activity Scores (sJADAS) at diagnosis were significantly higher in Group B (p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"61-68"},"PeriodicalIF":0.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627295","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}
引用次数: 0
A giant ovarian mucinous cystadenoma in a postmenarchal adolescent girl. 绝经后少女卵巢巨大粘液囊腺瘤。
The Turkish journal of pediatrics Pub Date : 2025-02-26 DOI: 10.24953/turkjpediatr.2025.5133
Baran Alkan, Saniye Ekinci, H Nursun Özcan, Meral Üner, Eylül Altunova, Özlem Tekşam, Bilgehan Yalçın
{"title":"A giant ovarian mucinous cystadenoma in a postmenarchal adolescent girl.","authors":"Baran Alkan, Saniye Ekinci, H Nursun Özcan, Meral Üner, Eylül Altunova, Özlem Tekşam, Bilgehan Yalçın","doi":"10.24953/turkjpediatr.2025.5133","DOIUrl":"10.24953/turkjpediatr.2025.5133","url":null,"abstract":"<p><strong>Background: </strong>Giant mucinous cystadenomas are rare in adolescents and young adults.</p><p><strong>Case presentation: </strong>We report a mucinous cystadenoma in a 16-year-old postmenarchal girl presented with abdominal distention and pain, and elevated serum CA-125 levels. Radiological evaluations showed a large cystic mass originating from the right ovary. The patient underwent successful surgery with complete resection of the tumor without rupture and the histopathological examination confirmed the diagnosis of a benign mucinous cystadenoma.</p><p><strong>Conclusion: </strong>The case emphasizes the importance of early diagnosis and the need for total surgical resection without rupture to ensure a favorable outcome in such cases and close follow-up is recommended.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"282-287"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228238","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}
引用次数: 0
The relationship between microRNA-155-5p and postoperative inflammatory markers in children with acute suppurative appendicitis and its role in predicting postoperative complications. 急性化脓性阑尾炎患儿microRNA-155-5p与术后炎症标志物的关系及其对术后并发症的预测作用
The Turkish journal of pediatrics Pub Date : 2025-02-26 DOI: 10.24953/turkjpediatr.2025.5455
Chunsheng Duan, Wei Lu, Jiansu Ma, Yanglin Song, Lixia Zhou
{"title":"The relationship between microRNA-155-5p and postoperative inflammatory markers in children with acute suppurative appendicitis and its role in predicting postoperative complications.","authors":"Chunsheng Duan, Wei Lu, Jiansu Ma, Yanglin Song, Lixia Zhou","doi":"10.24953/turkjpediatr.2025.5455","DOIUrl":"10.24953/turkjpediatr.2025.5455","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of acute suppurative appendicitis (ASA) is the highest among pediatric cases of acute abdominal conditions. This research examined the stress response linked to surgical techniques and identified potential biomarkers that could predict postoperative complications to enhance clinical treatment strategies.</p><p><strong>Methods: </strong>This study involved a selection of 166 ASA patients who underwent laparoscopic appendectomy (LA), and 150 patients who underwent open appendectomy (OA), based on data collected from 2020 to 2023. Comprehensive documentation of clinical and pathological characteristics, as well as postoperative complications, was conducted following patient enrollment. Quantitative polymerase chain reaction (qPCR), enzyme-linked immunosorbent assay (ELISA), and blood smear techniques were employed to assess the levels of microRNA (miR)-155-5p, C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), superoxide dismutase (SOD), and malondialdehyde (MDA), as well as changes in leukocytes, neutrophils, and lymphocytes at preoperative and postoperative 0 h, and 24 h. A logistic regression model was utilized to identify risk factors associated with the development of complications. Furthermore, receiver operating characteristic (ROC) curve analysis was performed to assess the predictive capacity of miR-155-5p for the occurrence of complications.</p><p><strong>Results: </strong>The study revealed that the levels of miR-155-5p postoperatively in patients undergoing OA was significantly greater than that observed in patients undergoing LA (P.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"78-89"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627278","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}
引用次数: 0
A case of neonatal gastric teratoma complicated with occult gastrointestinal hemorrhage misdiagnosed as lymphangioma. 新生儿胃畸胎瘤合并消化道隐性出血误诊为淋巴管瘤1例。
The Turkish journal of pediatrics Pub Date : 2025-02-26 DOI: 10.24953/turkjpediatr.2025.5148
Bin De Li, Kexiang Wei
{"title":"A case of neonatal gastric teratoma complicated with occult gastrointestinal hemorrhage misdiagnosed as lymphangioma.","authors":"Bin De Li, Kexiang Wei","doi":"10.24953/turkjpediatr.2025.5148","DOIUrl":"10.24953/turkjpediatr.2025.5148","url":null,"abstract":"<p><strong>Background: </strong>Gastric teratoma is a rare neoplasm, particularly in neonates, and usually presents as a palpable abdominal mass. However, severe occult gastrointestinal bleeding is uncommon and often misdiagnosed. Imaging studies are crucial for the preoperative diagnosis of neonatal teratoma, but definitive diagnosis relies on pathological examination.</p><p><strong>Case presentation: </strong>A 28-day-old boy presented with abdominal distension accompanied by vomiting for 2 days without hematemesis or melena. A complete blood count upon admission showed a hemoglobin level of 37 g/L. Ultrasound and computed tomography scans indicated a large cystic, solid mass in the abdominal cavity (approximately 9.8 × 8.8 × 11.2 cm), containing nodules, septa, calcification, and fat, and causing gastrointestinal compression. The mass was misdiagnosed as lymphangioma with hemorrhage before surgery. During surgery, the upper pole of the tumor was found to be fused with the gastric wall of the greater curvature of the fundus of the stomach, with most of the tumor growing exophytically and a small portion growing into the gastric lumen. The tumor, along with part of the gastric wall at the attachment site, was completely removed. Postoperative pathological examination revealed an immature teratoma grade 1. After discharge, the patient's growth and development were normal, with no adverse manifestations.</p><p><strong>Conclusions: </strong>Neonatal gastric teratoma with severe occult gastrointestinal bleeding is extremely rare and hence must be on the list of differential diagnoses of neonatal abdominal mass when a cystic solid mass is found, especially when accompanied by severe anemia without obvious gastrointestinal bleeding. Attention should be paid to the location of the lesion, which is predominantly in the left upper abdomen and has been significantly pushed and displaced by the gastrointestinal tract, and to the imaging characteristics of teratoma such as fat and calcification, which help to exclude other palpable masses encountered during the neonatal period.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"123-128"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626874","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}
引用次数: 0
Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye. 囊性纤维化跨膜传导调节剂(CFTR)调节剂治疗的资格:t<s:1> rkiye囊性纤维化登记队列。
The Turkish journal of pediatrics Pub Date : 2025-02-20 DOI: 10.24953/turkjpediatr.2025.4680
Meltem Akgül Erdal, Halime Nayır Büyükşahin, Velat Şen, Ayşe Ayzıt Kılınç, Haluk Çokuğraş, Güzide Doğan, Aslı İmran Yılmaz, Gökçen Ünal, Mahir Serbes, Derya Ufuk Altıntaş, Elif Arık, Özlem Keskin, Mehmet Mustafa Özaslan, Oğuz Karcıoğlu, Mehmet Köse, Abdurrahman Erdem Başaran, Eylül Pınar Çakır, Yakup Canıtez, Ali Özdemir, Koray Harmancı, Salih Uytun, Sanem Eryılmaz Polat, Melih Hangül, Hasan Yüksel, Gizem Özcan, Pervin Korkmaz, Mehmet Kılıç, Zeynep Gökçe Gayretli Aydın, Gönül Çaltepe, Demet Can, Sibel Doğru, Gökçen Kartal Öztürk, Ayşe Süleyman, Erdem Topal, Beste Özsezen, Mina Hızal, Ezgi Demirdöğen, Hamza Ogun, Şermin Börekçi, Hakan Yazan, Hadice Selimoğlu Şen, Ayşegül Doğan Demir, Erkan Çakır, Tuğba Şişmanlar Eyüboğlu, Nagehan Emiralioğlu, Sevgi Pekcan, Uğur Özçelik, Deniz Doğru
{"title":"Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.","authors":"Meltem Akgül Erdal, Halime Nayır Büyükşahin, Velat Şen, Ayşe Ayzıt Kılınç, Haluk Çokuğraş, Güzide Doğan, Aslı İmran Yılmaz, Gökçen Ünal, Mahir Serbes, Derya Ufuk Altıntaş, Elif Arık, Özlem Keskin, Mehmet Mustafa Özaslan, Oğuz Karcıoğlu, Mehmet Köse, Abdurrahman Erdem Başaran, Eylül Pınar Çakır, Yakup Canıtez, Ali Özdemir, Koray Harmancı, Salih Uytun, Sanem Eryılmaz Polat, Melih Hangül, Hasan Yüksel, Gizem Özcan, Pervin Korkmaz, Mehmet Kılıç, Zeynep Gökçe Gayretli Aydın, Gönül Çaltepe, Demet Can, Sibel Doğru, Gökçen Kartal Öztürk, Ayşe Süleyman, Erdem Topal, Beste Özsezen, Mina Hızal, Ezgi Demirdöğen, Hamza Ogun, Şermin Börekçi, Hakan Yazan, Hadice Selimoğlu Şen, Ayşegül Doğan Demir, Erkan Çakır, Tuğba Şişmanlar Eyüboğlu, Nagehan Emiralioğlu, Sevgi Pekcan, Uğur Özçelik, Deniz Doğru","doi":"10.24953/turkjpediatr.2025.4680","DOIUrl":"10.24953/turkjpediatr.2025.4680","url":null,"abstract":"<p><strong>Background: </strong>Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms.</p><p><strong>Methods: </strong>The Cystic Fibrosis Registry of Türkiye (CFrT) data was used to determine the age of patients in the year 2021 and the genetic variants they were carrying. Age- and CFTR-variant appropriate modulator therapies were determined using the Vertex® algorithm.</p><p><strong>Results: </strong>Among a total of 1930 registered patients, CTFR gene analysis was performed on a total of 1841 (95.4%) patients. Mutations were detected in one allele in 10.7% (198 patients), and in both alleles in 79% (1455 patients) of patients. A total of 855 patients (51.7% for whom at least 1 mutation was detected) were eligible for the drugs. The most appropriate drug among genotyped patients was found to be elexacaftor/tezacaftor/ivacaftor for 486 patients (26.4%), followed by ivacaftor for 327 patients (17.7%) and lumacaftor/ivacaftor for 42 patients (2%).</p><p><strong>Conclusions: </strong>Only half of patients registered in CFrT were eligible for CFTRms, which is a significant difference from the CFTR variant profile seen in USA and Europe. However, access to treatment is hampered for some patients whose genes are not analysed. Further studies in CF populations, where rare mutations are relatively more common, will contribute to the field of CFTR modulator treatments for such rare mutations.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"22-30"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627308","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}
引用次数: 0
Matrix metalloproteinase-7 and matrix metalloproteinase-9 expression is upregulated in congenital lung malformations. 基质金属蛋白酶-7和基质金属蛋白酶-9在先天性肺畸形中表达上调。
The Turkish journal of pediatrics Pub Date : 2025-02-20 DOI: 10.24953/turkjpediatr.2025.5484
Ayşe Parlak, Seçil Ak Aksoy, Melis Erçelik, Çağla Tekin, Hülya Öztürk Nazlıoğlu, Berrin Tunca, Arif Nuri Gürpınar
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