首页 > 最新文献

The Turkish journal of pediatrics最新文献

英文 中文
Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA). 四例难治性缺铁性贫血(IRIDA)患者的单中心经验。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.4522
Gülin Parlak, Muhammed Doğukan Aksu, Fatma Gümrük, Şule Ünal

Background: Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.

Case: Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included. Patients were evaluated for the differential diagnosis of microcytic, hypochromic anemia and investigated for the etiology of IDA. Homozygous or compound heterozygous mutations causing defective matriptase-2 protein expression were detected in the TMPRSS6 gene; these mutations included four frameshift mutations-two of which were the same in two cases and causing premature terminal stop codons-and a nonsense mutation, all of which were previously demonstrated in the literature. The response to parental iron therapy ranged from complete non-response to mild to good response in hemoglobin levels, but none of the patients showed improvement in iron parameters.

Conclusions: Increased awareness of IRIDA and keeping it in mind in the differential diagnosis in the presence of hypochromic microcytic anemia that does not respond to iron treatment will be crucial in improving the diagnosis and treatment of the disease and ultimately enhancing the quality of care for affected individuals.

背景:难治性缺铁性贫血(IRIDA)是一种罕见的常染色体隐性遗传型贫血,其特点是对口服铁剂治疗无反应,而对肠外铁剂治疗有部分反应。本文报告了本诊所收治的四例 IRIDA 患者的临床表现,包括他们入院时、口服和肠外铁剂治疗后的实验室值,以及他们的 TMPRSS6 基因突变分析:四名患者来自不同家庭,年龄在 3 岁至 14 岁之间,两女两男,其中两人为近亲结婚,在基层医疗机构被诊断为缺铁性贫血,因口服铁剂治疗效果不佳而转诊至本诊所。对患者进行了小红细胞、低色素性贫血的鉴别诊断评估,并对 IDA 的病因进行了调查。在TMPRSS6基因中发现了导致matriptase-2蛋白表达缺陷的同卵或复合杂合突变;这些突变包括四个移帧突变--其中两个在两个病例中相同,导致过早末端终止密码子--以及一个无义突变,所有这些突变以前都在文献中证实过。患者对父母铁剂治疗的反应从完全无反应到轻度反应再到血红蛋白水平良好反应不等,但没有一名患者的铁剂指标有所改善:提高对 IRIDA 的认识,并在对铁剂治疗无反应的低色素性小细胞性贫血的鉴别诊断中牢记这一点,对于改善该病的诊断和治疗以及最终提高患者的护理质量至关重要。
{"title":"Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA).","authors":"Gülin Parlak, Muhammed Doğukan Aksu, Fatma Gümrük, Şule Ünal","doi":"10.24953/turkjpediatr.2024.4522","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4522","url":null,"abstract":"<p><strong>Background: </strong>Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.</p><p><strong>Case: </strong>Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included. Patients were evaluated for the differential diagnosis of microcytic, hypochromic anemia and investigated for the etiology of IDA. Homozygous or compound heterozygous mutations causing defective matriptase-2 protein expression were detected in the TMPRSS6 gene; these mutations included four frameshift mutations-two of which were the same in two cases and causing premature terminal stop codons-and a nonsense mutation, all of which were previously demonstrated in the literature. The response to parental iron therapy ranged from complete non-response to mild to good response in hemoglobin levels, but none of the patients showed improvement in iron parameters.</p><p><strong>Conclusions: </strong>Increased awareness of IRIDA and keeping it in mind in the differential diagnosis in the presence of hypochromic microcytic anemia that does not respond to iron treatment will be crucial in improving the diagnosis and treatment of the disease and ultimately enhancing the quality of care for affected individuals.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"658-665"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711223","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
Dent's disease: case series from a single center. 登特氏病:来自一个中心的系列病例。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.4556
Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A Bakkaloğlu, Oğuz Söylemezoğlu

Background: Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.

Cases: The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected. The second case was a 4-year-old boy who was treated with a diagnosis of urinary tract infection but was found to have proteinuria. Our last case was an 11-month-old male infant who was being followed up for recurrent urinary tract infection and who had millimetric crystalloids in the renal collecting system. Proteinuria and hypercalciuria were present in all cases. Variants were observed in the CLCN5 gene for the first two cases (c.1852G>A and c.1557+1G>T, respectively) and OCRL gene (c.952C>T) for the last case. All patients were recommended oral hydration and a low-salt diet, and hydrochlorothiazide and enalapril were started. No deterioration in kidney function was observed in any patient.

Conclusion: DD is a disease that shows different phenotypes even among individuals with mutations in the same gene. Therefore, it should be considered in all patients with hypercalciuria, proteinuria, nephrolithiasis or nephrocalcinosis with/without proximal tubular dysfunction especially in the early childhood period. Classical treatments for hypercalciuria should be utilized, and a patient-based treatment plan should be drawn especially for proteinuria.

背景:登特氏病(DD)是一种罕见的X连锁隐性肾小管疾病,以低分子量蛋白尿、高钙尿症、肾钙化症/肾结石和慢性肾病为特征。通过这篇手稿,我们报告了过去 10 年中我科确诊为 DD 的 3 例患者,并由此描述了该病的遗传学、病理生理学、临床表现、病程和治疗方法:第一个病例是一名男性新生儿,因发现髓样肾钙化而到我科就诊。第二个病例是一名 4 岁的男孩,在接受治疗时被诊断为尿路感染,但发现有蛋白尿。最后一个病例是一名 11 个月大的男婴,因反复尿路感染接受随访,肾集合系统中出现毫米级结晶体。所有病例均出现蛋白尿和高钙尿症。前两个病例的 CLCN5 基因出现变异(分别为 c.1852G>A 和 c.1557+1G>T),最后一个病例的 OCRL 基因出现变异(c.952C>T)。建议所有患者口服水合药物和低盐饮食,并开始服用氢氯噻嗪和依那普利。所有患者的肾功能均未出现恶化:结论:DD 是一种即使在相同基因突变的个体中也会表现出不同表型的疾病。因此,所有伴有或不伴有近端肾小管功能障碍的高钙尿症、蛋白尿、肾结石或肾钙化症患者,尤其是儿童早期患者,都应考虑到这种疾病。应采用治疗高钙尿症的传统方法,尤其是针对蛋白尿的治疗,应根据患者的具体情况制定治疗方案。
{"title":"Dent's disease: case series from a single center.","authors":"Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A Bakkaloğlu, Oğuz Söylemezoğlu","doi":"10.24953/turkjpediatr.2024.4556","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4556","url":null,"abstract":"<p><strong>Background: </strong>Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.</p><p><strong>Cases: </strong>The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected. The second case was a 4-year-old boy who was treated with a diagnosis of urinary tract infection but was found to have proteinuria. Our last case was an 11-month-old male infant who was being followed up for recurrent urinary tract infection and who had millimetric crystalloids in the renal collecting system. Proteinuria and hypercalciuria were present in all cases. Variants were observed in the CLCN5 gene for the first two cases (c.1852G>A and c.1557+1G>T, respectively) and OCRL gene (c.952C>T) for the last case. All patients were recommended oral hydration and a low-salt diet, and hydrochlorothiazide and enalapril were started. No deterioration in kidney function was observed in any patient.</p><p><strong>Conclusion: </strong>DD is a disease that shows different phenotypes even among individuals with mutations in the same gene. Therefore, it should be considered in all patients with hypercalciuria, proteinuria, nephrolithiasis or nephrocalcinosis with/without proximal tubular dysfunction especially in the early childhood period. Classical treatments for hypercalciuria should be utilized, and a patient-based treatment plan should be drawn especially for proteinuria.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"649-657"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712353","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
Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta. 一位患有戈谢病 IIIC 型(同基因 D409H 突变)、主动脉瓣钙化和瓷器状主动脉的患者的临床治疗面临挑战。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.5206
Musa Öztürk, Ebru Aypar, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Murat Güvener, Ergün Barış Kaya

Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.

Case presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis. Despite the challenges during the cardiac surgery, we successfully performed transcatheter aortic valve implantation (TAVI). The patient developed a complete atrioventricular block and required a pacemaker after the TAVI. He experienced further complications during the follow-up.

Conclusion: The case presents the challenges in the treatment of cardiovascular complications in patients with Gaucher disease and demonstrates the importance of individualized treatment approaches, as well as the potential advantages and complications of TAVI in difficult situations like this.

背景:戈谢病是一种罕见的溶酶体储积症,由葡萄糖脑苷脂酶缺乏引起,导致葡萄糖脑苷脂在巨噬细胞中累积沉积,主要影响骨髓、肝脏和脾脏。戈谢病 IIIC 型是一种罕见的亚型,其特点是心血管受累、眼球运动障碍和迟发的神经系统症状:我们的病例是一名 14 岁的青少年男孩,他在 4 岁时被诊断出患有戈谢病 IIIC 型,他的基因突变为同型 D409H,自确诊以来,尽管接受了酶替代治疗,但还是出现了严重的主动脉瓣狭窄、广泛的主动脉钙化和瓷器样主动脉。尽管在心脏手术过程中面临重重困难,我们还是成功实施了经导管主动脉瓣植入术(TAVI)。TAVI 术后,患者出现了完全性房室传导阻滞,需要安装起搏器。随访期间,他又出现了其他并发症:本病例展示了治疗戈谢病患者心血管并发症所面临的挑战,说明了个体化治疗方法的重要性,以及 TAVI 在此类困难情况下的潜在优势和并发症。
{"title":"Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.","authors":"Musa Öztürk, Ebru Aypar, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Murat Güvener, Ergün Barış Kaya","doi":"10.24953/turkjpediatr.2024.5206","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5206","url":null,"abstract":"<p><strong>Background: </strong>Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.</p><p><strong>Case presentation: </strong>We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis. Despite the challenges during the cardiac surgery, we successfully performed transcatheter aortic valve implantation (TAVI). The patient developed a complete atrioventricular block and required a pacemaker after the TAVI. He experienced further complications during the follow-up.</p><p><strong>Conclusion: </strong>The case presents the challenges in the treatment of cardiovascular complications in patients with Gaucher disease and demonstrates the importance of individualized treatment approaches, as well as the potential advantages and complications of TAVI in difficult situations like this.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"643-648"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712363","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
Sedation - analgesia - muscle relaxant - withdrawal and delirium practices in pediatric intensive care units in Türkiye. 土耳其儿科重症监护室的镇静、镇痛、肌肉松弛剂、戒断和谵妄做法。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.4830
Esra Koçkuzu, Ali Korulmaz, Ümit Altuğ, Gürkan Bozan, Dinçer Yıldızdaş

Background: Pain and sedation management is an integral part of pediatric intensive care practice. Sedoanalgesia management must be balanced in order to optimize comfort and avoid complications. In order to achieve this balance, sedoanalgesia management needs to be clarified in pediatric intensive care units (PICU). With this study, we aimed to investigate sedation, analgesia, withdrawal and delirium practices, pharmacologic agent preferences, and current experiences and practices in scoring systems in PICUs in Türkiye.

Method: A questionnaire consisting of 57 questions was sent via e-mail to the 'Pediatric Intensive Care and Emergency' group, which includes all intensive care specialists, subspecialty students and lecturers in Türkiye.

Results: Our study involved 36 pediatric intensive care physicians working in PICUs in Türkiye. Among the PICU specialists who participated in the study, 83.3% stated that they performed routine assessments of sedation efficacy. While dexmedetomidine was the most commonly used sedative agent in patients undergoing noninvasive mechanical ventilation, benzodiazepines were the most preferred pharmacologic agent for sedation during mechanical ventilation. Of the pediatric intensivists who participated in the study, 94.4% stated that they performed routine pain assessments in their units. Of the PICU specialists who participated in the study, 69.4% stated that muscle relaxants were most commonly used to prevent patient-ventilator incompatibility during mechanical ventilation. Of the participants, 88.8% made withdrawal assessments when discontinuing sedo-analgesic agents. Delirium assessment was routinely performed by 58.3% of the participants.

Conclusions: This study showed that the practices in sedoanalgesia management in PICUs in Türkiye are in parallel with recommendations of the sedation guideline. Despite the increased sensitivity in sedoanalgesia management, awareness in the management of delirium and withdrawal syndrome is not at the desired level. Therefore, there is a need to develop guidelines, raise awareness and increase training on these issues in our Türkiye.

背景:疼痛和镇静管理是儿科重症监护实践中不可或缺的一部分。镇静镇痛管理必须保持平衡,以优化舒适度并避免并发症。为了实现这一平衡,需要明确儿科重症监护病房(PICU)的镇静镇痛管理。通过这项研究,我们旨在调查土耳其儿科重症监护病房的镇静、镇痛、戒断和谵妄做法、药剂偏好以及目前在评分系统方面的经验和做法:通过电子邮件向 "儿科重症监护和急诊 "小组发送了一份包含 57 个问题的调查问卷,该小组成员包括土耳其的所有重症监护专家、亚专业学生和讲师:我们的研究涉及 36 名在土耳其儿科重症监护病房工作的儿科重症监护医生。在参与研究的 PICU 专家中,83.3% 表示他们对镇静效果进行过常规评估。右美托咪定是接受无创机械通气患者最常用的镇静剂,而苯二氮卓类药物则是机械通气过程中最常用的镇静剂。在参与研究的儿科重症监护医生中,94.4% 的人表示他们在自己的病房中进行过常规疼痛评估。在参与研究的儿童重症监护病房专家中,69.4% 的专家表示肌肉松弛剂最常用于预防机械通气期间患者与呼吸机的不协调。88.8%的参与者在停用镇静镇痛药时进行了停药评估。58.3%的参与者常规进行谵妄评估:这项研究表明,土耳其 PICU 在镇静镇痛管理方面的做法与镇静指南的建议一致。尽管镇静镇痛管理的敏感性有所提高,但对谵妄和戒断综合征管理的认识却未达到预期水平。因此,有必要在土耳其就这些问题制定指南、提高认识并加强培训。
{"title":"Sedation - analgesia - muscle relaxant - withdrawal and delirium practices in pediatric intensive care units in Türkiye.","authors":"Esra Koçkuzu, Ali Korulmaz, Ümit Altuğ, Gürkan Bozan, Dinçer Yıldızdaş","doi":"10.24953/turkjpediatr.2024.4830","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4830","url":null,"abstract":"<p><strong>Background: </strong>Pain and sedation management is an integral part of pediatric intensive care practice. Sedoanalgesia management must be balanced in order to optimize comfort and avoid complications. In order to achieve this balance, sedoanalgesia management needs to be clarified in pediatric intensive care units (PICU). With this study, we aimed to investigate sedation, analgesia, withdrawal and delirium practices, pharmacologic agent preferences, and current experiences and practices in scoring systems in PICUs in Türkiye.</p><p><strong>Method: </strong>A questionnaire consisting of 57 questions was sent via e-mail to the 'Pediatric Intensive Care and Emergency' group, which includes all intensive care specialists, subspecialty students and lecturers in Türkiye.</p><p><strong>Results: </strong>Our study involved 36 pediatric intensive care physicians working in PICUs in Türkiye. Among the PICU specialists who participated in the study, 83.3% stated that they performed routine assessments of sedation efficacy. While dexmedetomidine was the most commonly used sedative agent in patients undergoing noninvasive mechanical ventilation, benzodiazepines were the most preferred pharmacologic agent for sedation during mechanical ventilation. Of the pediatric intensivists who participated in the study, 94.4% stated that they performed routine pain assessments in their units. Of the PICU specialists who participated in the study, 69.4% stated that muscle relaxants were most commonly used to prevent patient-ventilator incompatibility during mechanical ventilation. Of the participants, 88.8% made withdrawal assessments when discontinuing sedo-analgesic agents. Delirium assessment was routinely performed by 58.3% of the participants.</p><p><strong>Conclusions: </strong>This study showed that the practices in sedoanalgesia management in PICUs in Türkiye are in parallel with recommendations of the sedation guideline. Despite the increased sensitivity in sedoanalgesia management, awareness in the management of delirium and withdrawal syndrome is not at the desired level. Therefore, there is a need to develop guidelines, raise awareness and increase training on these issues in our Türkiye.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"556-566"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712369","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
Differences in physical activity, sedentary time, and anthropometric variables among children and adolescents: The TUBON project. 儿童和青少年在体育活动、久坐时间和人体测量变量方面的差异:TUBON 项目。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.5300
Necip Demirci, Ayda Karaca, Emine Çağlar, Pelin Aksen, Nigar Küçükkubaş, Mehmet Mesut Çelebi, Erdem Karabulut, Gıyasettin Demirhan, Sadettin Kirazcı, Elif Nursel Özmert

Background: Although physical inactivity may lead to increasing obesity prevalence, research on anthropometric variables changes based on physical activity (PA) in children and adolescents is limited. PA decreases with age, while sedentary behavior increases. The study aimed to examine differences in objectively measured sedentary time, light-intensity physical activity (LPA), and moderate-to-vigorous intensity physical activity (MVPA) between children and adolescents, and the differences in the percentiles of anthropometric variables between physically active and inactive groups according to World Health Organization PA recommendations.

Methods: A total of 759 participants aged 6-17 years (boys, n=358; girls, n=401) were included in the study. The ActiGraph wGT3x-BT accelerometer was used to measure sedentary time, LPA, and MVPA. Height, weight, waist circumference (WC), triceps skinfold thickness (T-SFT), and medial-calf skinfold thickness (M-SFT) were measured. Body fat percentage (BF%) and body mass index (BMI) were calculated, and the percentiles of anthropometric variables were categorized.

Results: The findings showed that children had less sedentary time and a higher LPA than adolescents for both genders (p<0.05). Children had a higher MVPA than adolescents in girls (p<0.05), but the difference was insignificant in boys (p>0.05). In boys, physically active children were in lower percentiles for T-SFT and BF% than those who did not (p<0.05). In boys, adolescents who were physically inactive were in higher percentiles for BMI, T-SFT, M-SFT, and BF% (p<0.05). In addition, in girls, adolescents who were physically active were in lower percentiles of BMI, M-SFT, and BF%, whereas children who were physically active were in lower percentiles of M-SFT and BF% (p<0.05).

Conclusion: Sedentary time increases while PA decreases with age. Children and adolescents who met the WHO PA recommendation had lower percentiles of anthropometric variables, indicating the importance of PA in preventing obesity in these age groups.

背景:虽然缺乏运动可能会导致肥胖症发病率上升,但基于儿童和青少年体力活动(PA)的人体测量变量变化的研究却很有限。体力活动会随着年龄的增长而减少,而久坐则会增加。该研究旨在根据世界卫生组织的体力活动建议,研究儿童和青少年在客观测量的久坐时间、轻强度体力活动(LPA)和中到高强度体力活动(MVPA)方面的差异,以及体力活动组和非体力活动组之间人体测量变量百分位数的差异:研究共纳入 759 名 6-17 岁的参与者(男孩,358 人;女孩,401 人)。研究使用 ActiGraph wGT3x-BT 加速计测量久坐时间、LPA 和 MVPA。对身高、体重、腰围(WC)、肱三头肌皮褶厚度(T-SFT)和小腿内侧皮褶厚度(M-SFT)进行了测量。计算体脂率(BF%)和体重指数(BMI),并对人体测量变量的百分位数进行分类:结果:研究结果表明,与青少年相比,男女儿童的久坐时间更少,LPA更高(P0.05)。在男孩中,参加体育锻炼的儿童的 T-SFT 和 BF% 百分位数低于不参加体育锻炼的儿童(p 结论:随着年龄的增长,久坐时间会增加,而体力活动会减少。符合世界卫生组织体育锻炼建议的儿童和青少年的人体测量变量百分位数较低,这表明体育锻炼对预防这些年龄组的肥胖非常重要。
{"title":"Differences in physical activity, sedentary time, and anthropometric variables among children and adolescents: The TUBON project.","authors":"Necip Demirci, Ayda Karaca, Emine Çağlar, Pelin Aksen, Nigar Küçükkubaş, Mehmet Mesut Çelebi, Erdem Karabulut, Gıyasettin Demirhan, Sadettin Kirazcı, Elif Nursel Özmert","doi":"10.24953/turkjpediatr.2024.5300","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5300","url":null,"abstract":"<p><strong>Background: </strong>Although physical inactivity may lead to increasing obesity prevalence, research on anthropometric variables changes based on physical activity (PA) in children and adolescents is limited. PA decreases with age, while sedentary behavior increases. The study aimed to examine differences in objectively measured sedentary time, light-intensity physical activity (LPA), and moderate-to-vigorous intensity physical activity (MVPA) between children and adolescents, and the differences in the percentiles of anthropometric variables between physically active and inactive groups according to World Health Organization PA recommendations.</p><p><strong>Methods: </strong>A total of 759 participants aged 6-17 years (boys, n=358; girls, n=401) were included in the study. The ActiGraph wGT3x-BT accelerometer was used to measure sedentary time, LPA, and MVPA. Height, weight, waist circumference (WC), triceps skinfold thickness (T-SFT), and medial-calf skinfold thickness (M-SFT) were measured. Body fat percentage (BF%) and body mass index (BMI) were calculated, and the percentiles of anthropometric variables were categorized.</p><p><strong>Results: </strong>The findings showed that children had less sedentary time and a higher LPA than adolescents for both genders (p<0.05). Children had a higher MVPA than adolescents in girls (p<0.05), but the difference was insignificant in boys (p>0.05). In boys, physically active children were in lower percentiles for T-SFT and BF% than those who did not (p<0.05). In boys, adolescents who were physically inactive were in higher percentiles for BMI, T-SFT, M-SFT, and BF% (p<0.05). In addition, in girls, adolescents who were physically active were in lower percentiles of BMI, M-SFT, and BF%, whereas children who were physically active were in lower percentiles of M-SFT and BF% (p<0.05).</p><p><strong>Conclusion: </strong>Sedentary time increases while PA decreases with age. Children and adolescents who met the WHO PA recommendation had lower percentiles of anthropometric variables, indicating the importance of PA in preventing obesity in these age groups.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"511-524"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712354","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
Foreign body aspiration through the eyes of a pediatric pulmonologist: Is it possible to reduce the rate of negative rigid bronchoscopies? 小儿肺科医生眼中的异物吸入:能否降低硬质支气管镜检查的阴性率?
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.4571
Birce Sunman, Halime Nayır Büyükşahin, İsmail Güzelkaş, Didem Alboğa, Meltem Akgül Erdal, Havva İpek Demir, Raziye Atan, Burcu Çapraz Yavuz, Burak Ardıçlı, İdil Rana User, Özlem Tekşam, Nagehan Emiralioğlu, Ebru Yalçın, Deniz Doğru, Uğur Özçelik, Nural Kiper

Background: Identifying a foreign body aspiration (FBA) still remains a diagnostic difficulty. Moreover, the indications for bronchoscopy in subjects of suspected foreign bodies are not clear. The aim of this study was to evaluate the effectiveness of pediatric pulmonologists in diagnosing FBA.

Methods: This was a retrospective, single-center study on children who underwent rigid bronchoscopy for suspected FBA. Data on the patients were obtained from the medical records. Patients who had foreign bodies (FB) identified during rigid bronchoscopy were classified as FB positive, and those in whom rigid bronchoscopy did not detect FB were defined as FB negative. Demographic data as well as consultation status with a pediatric pulmonologist were compared between these two groups. Furthermore, the patients were categorized into three groups based on their clinical scores that assessed the likelihood of the presence of FB: low risk, moderate risk, and high risk.

Results: Out of 474 rigid bronchoscopies, 232 (48.9%) detected FB. Consultation by a pediatric pulmonologist was not requested in 388 (81.8%). Out of these 388 patients, 206 (53%) were negative for FB. In terms of FB detection success, there was no difference between individuals who sought pulmonology consultation and those who did not (58.1% vs. 53.1% respectively, p=0.059). However, when the children were categorized based on their risk levels, the incidence of detecting FB among children in low-risk group was 42% when they received consultation from the pulmonology department, whereas this incidence dropped to 5.6% when pulmonology consultation was not sought (p<0.001).

Conclusions: Consulting a pediatric pulmonologist, particularly for low-risk individuals, might reduce the likelihood of performing unnecessary bronchoscopies. Given that rigid bronchoscopy is an intrusive technique, it is crucial to reduce the number of negative bronchoscopies in order to mitigate complications associated with it.

背景:异物吸入(FBA)的鉴别仍然是一个诊断难题。此外,对疑似异物患者进行支气管镜检查的适应症也不明确。本研究旨在评估儿科肺科医生诊断异物吸入的有效性:这是一项回顾性的单中心研究,研究对象是因怀疑有异物而接受硬质支气管镜检查的儿童。患者数据来自医疗记录。在硬质支气管镜检查中发现异物(FB)的患者被归类为FB阳性,而硬质支气管镜检查未发现异物的患者被定义为FB阴性。两组患者的人口统计学数据以及儿科肺科医生的会诊情况进行了比较。此外,还根据评估 FB 存在可能性的临床评分将患者分为三组:低风险组、中度风险组和高度风险组:在 474 例硬质支气管镜检查中,有 232 例(48.9%)发现了 FB。388例(81.8%)患者未要求儿科肺科医生会诊。在这 388 名患者中,206 人(53%)的 FB 检测结果为阴性。就 FB 检测成功率而言,寻求肺科会诊的患者与未寻求肺科会诊的患者之间没有差异(分别为 58.1% 对 53.1%,P=0.059)。然而,如果根据风险水平对儿童进行分类,低风险组儿童在接受肺科会诊时,FB的检出率为42%,而未接受肺科会诊时,这一比率降至5.6%(P结论:向小儿肺科医生咨询,尤其是向低风险人群咨询,可以减少不必要的支气管镜检查。鉴于硬质支气管镜检查是一种侵入性技术,因此必须减少阴性支气管镜检查的次数,以减少与之相关的并发症。
{"title":"Foreign body aspiration through the eyes of a pediatric pulmonologist: Is it possible to reduce the rate of negative rigid bronchoscopies?","authors":"Birce Sunman, Halime Nayır Büyükşahin, İsmail Güzelkaş, Didem Alboğa, Meltem Akgül Erdal, Havva İpek Demir, Raziye Atan, Burcu Çapraz Yavuz, Burak Ardıçlı, İdil Rana User, Özlem Tekşam, Nagehan Emiralioğlu, Ebru Yalçın, Deniz Doğru, Uğur Özçelik, Nural Kiper","doi":"10.24953/turkjpediatr.2024.4571","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4571","url":null,"abstract":"<p><strong>Background: </strong>Identifying a foreign body aspiration (FBA) still remains a diagnostic difficulty. Moreover, the indications for bronchoscopy in subjects of suspected foreign bodies are not clear. The aim of this study was to evaluate the effectiveness of pediatric pulmonologists in diagnosing FBA.</p><p><strong>Methods: </strong>This was a retrospective, single-center study on children who underwent rigid bronchoscopy for suspected FBA. Data on the patients were obtained from the medical records. Patients who had foreign bodies (FB) identified during rigid bronchoscopy were classified as FB positive, and those in whom rigid bronchoscopy did not detect FB were defined as FB negative. Demographic data as well as consultation status with a pediatric pulmonologist were compared between these two groups. Furthermore, the patients were categorized into three groups based on their clinical scores that assessed the likelihood of the presence of FB: low risk, moderate risk, and high risk.</p><p><strong>Results: </strong>Out of 474 rigid bronchoscopies, 232 (48.9%) detected FB. Consultation by a pediatric pulmonologist was not requested in 388 (81.8%). Out of these 388 patients, 206 (53%) were negative for FB. In terms of FB detection success, there was no difference between individuals who sought pulmonology consultation and those who did not (58.1% vs. 53.1% respectively, p=0.059). However, when the children were categorized based on their risk levels, the incidence of detecting FB among children in low-risk group was 42% when they received consultation from the pulmonology department, whereas this incidence dropped to 5.6% when pulmonology consultation was not sought (p<0.001).</p><p><strong>Conclusions: </strong>Consulting a pediatric pulmonologist, particularly for low-risk individuals, might reduce the likelihood of performing unnecessary bronchoscopies. Given that rigid bronchoscopy is an intrusive technique, it is crucial to reduce the number of negative bronchoscopies in order to mitigate complications associated with it.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"578-587"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712357","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
Changes in skin barrier integrity by electrical impedance spectroscopy during dupilumab treatment on a child with severe atopic dermatitis. 通过电阻抗频谱分析,了解一名患有严重特应性皮炎的儿童在接受杜匹单抗治疗期间皮肤屏障完整性的变化。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.4902
Elif Yaycı, Işıl Ezelsoy, Beliz Su Gündoğdu, Betül Büyüktiryaki, Cansın Saçkesen

Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by epidermal skin barrier dysfunction and altered immune response. Electrical impedance spectroscopy (EIS) has been used as a novel tool to detect skin barrier changes in AD. EIS is a non-invasive measure of the electrical impedance of tissue and is sensitive to cellular structure and extracellular environment.

Case presentation: An 8-year-old girl presented with severe AD, starting at 3 years of age. She also had allergic rhinitis, food allergies, and sensitization to mites, eggs, and nuts. Unresponsive to other treatments, she was administered 300 mg of dupilumab, a monoclonal antibody inhibiting IL-4 and IL-13 activity. Patient's response to the treatment and skin barrier integrity was followed for 6 months: First at the baseline (before dupilumab) and then again at the 1st, 2nd, 3rd, and 5.5th month after dupilumab with SCORing Atopic Dermatitis (SCORAD), as well as measurements of moisture by MoistureMeterSC (Delfin®) and EIS by Nevisense® (SciBase) on the forearm and antecubital fossa of the same arm. At the end of 6 months, her SCORAD improved from 96 to 37. The moisture measurements were variable. The EIS by Z1 score in the forearm increased from 72 to 141 and EIS by MIX scores increased from 2.7 to 6.2. The correlation between SCORAD and forearm EIS by Z1 and MIX scores were significant: r=-0.913, (p=0.03) and r=-0.881, (p=0.049). The correlation between forearm MIX scores with sleeplessness and itching was significant: r=-0.956, (p=0.011), r=-0.942, (p=0.017).

Conclusion: As higher EIS scores reflect stronger barrier integrity, the increase in Z1 and MIX obtained from Nevisense® implies an improvement in the skin barrier integrity during dupilumab treatment. This report highlights the potential use of EIS in atopic dermatitis patients to evaluate treatment efficacy. We urge rapid and non-invasive use of EIS in pediatrics to be further investigated in clinical settings.

背景:特应性皮炎(AD)是一种慢性炎症性皮肤病,其特点是表皮皮肤屏障功能障碍和免疫反应改变。电阻抗光谱(EIS)已被用作检测特应性皮炎皮肤屏障变化的新型工具。电阻抗光谱是一种非侵入性的组织电阻抗测量方法,对细胞结构和细胞外环境非常敏感:一名 8 岁女孩从 3 岁开始出现严重的注意力缺失症。她还患有过敏性鼻炎、食物过敏以及对螨虫、鸡蛋和坚果过敏。由于对其他治疗无效,她接受了 300 毫克的杜匹单抗治疗,这是一种抑制 IL-4 和 IL-13 活性的单克隆抗体。对患者的治疗反应和皮肤屏障完整性进行了为期 6 个月的跟踪观察:首先在基线(杜匹单抗使用前),然后在杜匹单抗使用后的第 1、2、3 和 5.5 个月使用 SCORing Atopic Dermatitis (SCORAD),并使用 MoistureMeterSC (Delfin®) 和 Nevisense® (SciBase) 测量同一手臂前臂和眶前窝的湿度和 EIS。6 个月后,她的 SCORAD 从 96 分降至 37 分。前臂的 EIS Z1 分数从 72 分增加到 141 分,EIS MIX 分数从 2.7 分增加到 6.2 分。SCORAD 与前臂 EIS 的 Z1 和 MIX 分数之间存在显著的相关性:r=-0.913,(p=0.03)和 r=-0.881,(p=0.049)。前臂 MIX 分数与失眠和瘙痒之间的相关性显著:r=-0.956,(p=0.011),r=-0.942,(p=0.017):由于较高的 EIS 分数反映了较强的屏障完整性,Nevisense® 获得的 Z1 和 MIX 分数的增加意味着在杜匹单抗治疗期间皮肤屏障完整性得到了改善。本报告强调了在特应性皮炎患者中使用 EIS 评估疗效的可能性。我们呼吁在临床环境中进一步研究 EIS 在儿科中的快速、无创应用。
{"title":"Changes in skin barrier integrity by electrical impedance spectroscopy during dupilumab treatment on a child with severe atopic dermatitis.","authors":"Elif Yaycı, Işıl Ezelsoy, Beliz Su Gündoğdu, Betül Büyüktiryaki, Cansın Saçkesen","doi":"10.24953/turkjpediatr.2024.4902","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4902","url":null,"abstract":"<p><strong>Background: </strong>Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by epidermal skin barrier dysfunction and altered immune response. Electrical impedance spectroscopy (EIS) has been used as a novel tool to detect skin barrier changes in AD. EIS is a non-invasive measure of the electrical impedance of tissue and is sensitive to cellular structure and extracellular environment.</p><p><strong>Case presentation: </strong>An 8-year-old girl presented with severe AD, starting at 3 years of age. She also had allergic rhinitis, food allergies, and sensitization to mites, eggs, and nuts. Unresponsive to other treatments, she was administered 300 mg of dupilumab, a monoclonal antibody inhibiting IL-4 and IL-13 activity. Patient's response to the treatment and skin barrier integrity was followed for 6 months: First at the baseline (before dupilumab) and then again at the 1st, 2nd, 3rd, and 5.5th month after dupilumab with SCORing Atopic Dermatitis (SCORAD), as well as measurements of moisture by MoistureMeterSC (Delfin®) and EIS by Nevisense® (SciBase) on the forearm and antecubital fossa of the same arm. At the end of 6 months, her SCORAD improved from 96 to 37. The moisture measurements were variable. The EIS by Z1 score in the forearm increased from 72 to 141 and EIS by MIX scores increased from 2.7 to 6.2. The correlation between SCORAD and forearm EIS by Z1 and MIX scores were significant: r=-0.913, (p=0.03) and r=-0.881, (p=0.049). The correlation between forearm MIX scores with sleeplessness and itching was significant: r=-0.956, (p=0.011), r=-0.942, (p=0.017).</p><p><strong>Conclusion: </strong>As higher EIS scores reflect stronger barrier integrity, the increase in Z1 and MIX obtained from Nevisense® implies an improvement in the skin barrier integrity during dupilumab treatment. This report highlights the potential use of EIS in atopic dermatitis patients to evaluate treatment efficacy. We urge rapid and non-invasive use of EIS in pediatrics to be further investigated in clinical settings.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"637-642"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712365","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
Multipotent mesenchymal stromal cell therapy for a neonate with congenital diaphragmatic hernia and adhesive small bowel obstruction. 为一名患有先天性膈疝和粘连性小肠梗阻的新生儿提供多能间充质基质细胞疗法。
Pub Date : 2024-11-16 DOI: 10.24953/turkjpediatr.2024.4856
Şükran Yıldırım, Aliye Kandırıcı

Background: In the last decade, therapy using multipotent mesenchymal stromal cells (MSCs) has offered hope for regenerating the lungs of preterm babies with chronic lung disease. Due to similar disease mechanisms, it is logical to explore the potential impact of MSC therapy on pulmonary hypoplasia in congenital diaphragmatic hernia. Furthermore, MSCs may also contribute to the regeneration of the intestines affected by adhesive small bowel obstruction in patients with congenital diaphragmatic hernia.

Case presentation: A female newborn, delivered at 32 weeks and six days gestational age, was diagnosed with a left congenital diaphragmatic hernia. After surgical repair and respiratory/nutritional support for 39 days, she was still dependent on a ventilator and total parenteral nutrition. Two MSC treatments were given a week apart: 10 million cells/kg intratracheally and 5 million cells/kg intravenously. She was extubated, and her enteral nutrition improved after the treatment. No side effects were detected. We present the first documented case using MSCs derived from the umbilical cord to simultaneously treat pulmonary hypoplasia and adhesive small bowel obstruction of congenital diaphragmatic hernia.

Conclusion: Although MSC treatment is very promising for pulmonary hypoplasia and adhesive small bowel disease of congenital diaphragmatic hernia, much more needs to be learned about potential side effects, appropriate dosage, and the optimal method of administration.

背景:在过去十年中,使用多能间充质基质细胞(MSCs)治疗为患有慢性肺病的早产儿肺部再生带来了希望。由于疾病机制相似,探索间充质干细胞疗法对先天性膈疝肺发育不良的潜在影响是合乎逻辑的。此外,间充质干细胞还可能有助于先天性膈疝患者受粘连性小肠梗阻影响的肠道再生:一名胎龄 32 周零 6 天的女性新生儿被诊断出患有左侧先天性膈疝。经过手术修补和 39 天的呼吸/营养支持后,她仍需依赖呼吸机和全肠外营养。两次间充质干细胞治疗相隔一周:气管内注射 1000 万个细胞/千克,静脉注射 500 万个细胞/千克。治疗后,她拔掉了气管插管,肠内营养状况也有所改善。未发现任何副作用。我们介绍了首例利用脐带间充质干细胞同时治疗肺发育不全和先天性膈疝粘连性小肠梗阻的病例:尽管间充质干细胞治疗先天性膈疝肺发育不全和粘连性小肠梗阻很有前景,但对于潜在的副作用、适当的剂量和最佳的给药方法,我们还需要进一步了解。
{"title":"Multipotent mesenchymal stromal cell therapy for a neonate with congenital diaphragmatic hernia and adhesive small bowel obstruction.","authors":"Şükran Yıldırım, Aliye Kandırıcı","doi":"10.24953/turkjpediatr.2024.4856","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4856","url":null,"abstract":"<p><strong>Background: </strong>In the last decade, therapy using multipotent mesenchymal stromal cells (MSCs) has offered hope for regenerating the lungs of preterm babies with chronic lung disease. Due to similar disease mechanisms, it is logical to explore the potential impact of MSC therapy on pulmonary hypoplasia in congenital diaphragmatic hernia. Furthermore, MSCs may also contribute to the regeneration of the intestines affected by adhesive small bowel obstruction in patients with congenital diaphragmatic hernia.</p><p><strong>Case presentation: </strong>A female newborn, delivered at 32 weeks and six days gestational age, was diagnosed with a left congenital diaphragmatic hernia. After surgical repair and respiratory/nutritional support for 39 days, she was still dependent on a ventilator and total parenteral nutrition. Two MSC treatments were given a week apart: 10 million cells/kg intratracheally and 5 million cells/kg intravenously. She was extubated, and her enteral nutrition improved after the treatment. No side effects were detected. We present the first documented case using MSCs derived from the umbilical cord to simultaneously treat pulmonary hypoplasia and adhesive small bowel obstruction of congenital diaphragmatic hernia.</p><p><strong>Conclusion: </strong>Although MSC treatment is very promising for pulmonary hypoplasia and adhesive small bowel disease of congenital diaphragmatic hernia, much more needs to be learned about potential side effects, appropriate dosage, and the optimal method of administration.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"630-636"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142712367","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
Child health in the first 100 years of Republic of Türkiye: a story of hope, labor and success. 图尔基耶共和国第一个 100 年的儿童健康:希望、劳动和成功的故事。
Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4523
Canan Seren

The Republic of Türkiye commemorated its 100th year in 2023. Within one century, a battle weary, poor country has changed into a powerful, game changing leader in the world. This was accomplished by the motivation and overwork of the Turkish nation and a great leader, Mustafa Kemal Atatürk. The status of child health in 1923 can be summarized as high infant and under-five mortality rates, epidemic diseases and hardly any healthcare facilities and health-care professionals. Since a healthy, well educated workforce was one of the main requirements for the development of the young republic, child health was given a great emphasis. With the efforts of the whole nation, many children's hospitals were established, infant mortality decreased, and malaria, neonatal tetanus, polio and diphtheria were eradicated. In this article, the progression of child health in the first 100 years of the Republic of Türkiye will be reviewed.

2023 年是土耳其共和国成立 100 周年。在一个世纪的时间里,一个饱经战火的贫穷国家变成了一个强大的、改变世界游戏规则的领导者。这是土耳其民族和伟大领袖穆斯塔法-凯末尔-阿塔图尔克积极进取、不懈努力的结果。1923 年的儿童健康状况可以概括为婴儿和五岁以下儿童死亡率高、流行病多、几乎没有任何医疗保健设施和医疗保健专业人员。由于健康、受过良好教育的劳动力是年轻的共和国发展的主要要求之一,因此儿童健康受到了高度重视。在全国人民的努力下,建立了许多儿童医院,降低了婴儿死亡率,消灭了疟疾、新生儿破伤风、脊髓灰质炎和白喉。本文将回顾图尔基耶共和国第一个 100 年中儿童健康的发展历程。
{"title":"Child health in the first 100 years of Republic of Türkiye: a story of hope, labor and success.","authors":"Canan Seren","doi":"10.24953/turkjpediatr.2024.4523","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4523","url":null,"abstract":"<p><p>The Republic of Türkiye commemorated its 100th year in 2023. Within one century, a battle weary, poor country has changed into a powerful, game changing leader in the world. This was accomplished by the motivation and overwork of the Turkish nation and a great leader, Mustafa Kemal Atatürk. The status of child health in 1923 can be summarized as high infant and under-five mortality rates, epidemic diseases and hardly any healthcare facilities and health-care professionals. Since a healthy, well educated workforce was one of the main requirements for the development of the young republic, child health was given a great emphasis. With the efforts of the whole nation, many children's hospitals were established, infant mortality decreased, and malaria, neonatal tetanus, polio and diphtheria were eradicated. In this article, the progression of child health in the first 100 years of the Republic of Türkiye will be reviewed.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"387-400"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485119","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 with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation. 一个身材矮小和蛋白尿的病例:一个 m.3243A>G 基因突变家族的非典型表现。
Pub Date : 2024-10-07 DOI: 10.24953/turkjpediatr.2024.4702
Gönül Büyükyılmaz, Mihriban İnözü, Büşranur Çavdarlı

Background: The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants. The phenotypes associated with this mutation range from asymptomatic induviduals to well-defined clinical syndromes, or non-syndromic mitochondrial disorders. Variable clinical features in pediatric cases may cause difficulty in diagnosis. Kidney involvement in this mutation is uncommon and reported on a case-by-case basis. Here, we report on a patient with m.3243A>G mutation, who presented with short stature and proteinuria, and his family, who share the same genotype but exhibit different heteroplasmy levels in different tissues and variable phenotypes.

Case presentation: A 15-year-old male patient was admitted to the pediatric endocrinology department with short stature. His examinations revealed nephrotic range proteinuria, hearing loss, impaired glucose tolerance, and Wolf-Parkinson-White syndrome. From family history, it was learned that diabetes mellitus (DM) and progressive sensorineural hearing loss were common in this family. The patient's mother, who had chronic kidney disease, DM, and hearing loss, had died suddenly for an unknown reason. Considering the family history, a genetic analysis was performed for mitochondrial disease. Mitochondrial DNA analysis revealed a m.3243A>G mutation with 47% heteroplasmy in blood, 62% heteroplasmy in buccal cells, and 96% heteroplasmy in urothelial cells in our patient.

Conclusions: Short stature without any other complaint and renal involvement are rare findings in m.3243A>G mutation. In patients presenting with proteinuria, in the presence of conditions affecting many systems such as endocrine system pathologies, hearing loss, and cardiac pathologies, and in the presence of individuals with a similar family history of multiple organ involvement, mitochondrial diseases should be considered, and examined from this perspective. Our case illustrates the value of a detailed medical and family history.

背景:线粒体 DNA(mtDNA)m.3243A>G 突变是最常见的致病性 mtDNA 变异之一。与这种突变相关的表型包括从无症状的个体到明确的临床综合征或非综合征线粒体疾病。儿科病例的临床特征多变,可能会给诊断带来困难。这种突变累及肾脏的病例并不常见,而且是逐例报告。在此,我们报告了一名 m.3243A>G 基因突变的患者,该患者表现为身材矮小和蛋白尿,他和他的家族成员具有相同的基因型,但在不同组织中表现出不同的异质性水平和不同的表型:一名 15 岁的男性患者因身材矮小被送入儿科内分泌科。他的检查结果显示肾病范围蛋白尿、听力下降、糖耐量受损和沃尔夫-帕金森-怀特综合征。从家族病史中得知,糖尿病(DM)和进行性感音神经性听力损失在这个家族中很常见。患者的母亲患有慢性肾病、糖尿病和听力损失,曾因不明原因猝死。考虑到家族病史,对患者进行了线粒体疾病的基因分析。线粒体DNA分析显示,患者的m.3243A>G基因突变在血液中有47%的异质性,在口腔细胞中有62%的异质性,在尿道细胞中有96%的异质性:结论:在m.3243A>G基因突变患者中,身材矮小而无任何其他症状和肾脏受累是罕见的发现。在出现蛋白尿的患者中,如果存在影响多个系统的疾病,如内分泌系统病变、听力损失和心脏病变,以及存在多器官受累的类似家族史的个体,则应考虑线粒体疾病,并从这个角度进行检查。我们的病例说明了详细病史和家族史的价值。
{"title":"A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.","authors":"Gönül Büyükyılmaz, Mihriban İnözü, Büşranur Çavdarlı","doi":"10.24953/turkjpediatr.2024.4702","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4702","url":null,"abstract":"<p><strong>Background: </strong>The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants. The phenotypes associated with this mutation range from asymptomatic induviduals to well-defined clinical syndromes, or non-syndromic mitochondrial disorders. Variable clinical features in pediatric cases may cause difficulty in diagnosis. Kidney involvement in this mutation is uncommon and reported on a case-by-case basis. Here, we report on a patient with m.3243A>G mutation, who presented with short stature and proteinuria, and his family, who share the same genotype but exhibit different heteroplasmy levels in different tissues and variable phenotypes.</p><p><strong>Case presentation: </strong>A 15-year-old male patient was admitted to the pediatric endocrinology department with short stature. His examinations revealed nephrotic range proteinuria, hearing loss, impaired glucose tolerance, and Wolf-Parkinson-White syndrome. From family history, it was learned that diabetes mellitus (DM) and progressive sensorineural hearing loss were common in this family. The patient's mother, who had chronic kidney disease, DM, and hearing loss, had died suddenly for an unknown reason. Considering the family history, a genetic analysis was performed for mitochondrial disease. Mitochondrial DNA analysis revealed a m.3243A>G mutation with 47% heteroplasmy in blood, 62% heteroplasmy in buccal cells, and 96% heteroplasmy in urothelial cells in our patient.</p><p><strong>Conclusions: </strong>Short stature without any other complaint and renal involvement are rare findings in m.3243A>G mutation. In patients presenting with proteinuria, in the presence of conditions affecting many systems such as endocrine system pathologies, hearing loss, and cardiac pathologies, and in the presence of individuals with a similar family history of multiple organ involvement, mitochondrial diseases should be considered, and examined from this perspective. Our case illustrates the value of a detailed medical and family history.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 4","pages":"490-498"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485115","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
期刊
The Turkish journal of pediatrics
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1