Pediatrics International最新文献_第8页

A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant. 一种新的KMT2A c.8862del变异引起的Wiedemann-Steiner综合征1例。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15873

Hikaru Nishida, Eri Imagawa, Toshiki Tsunogai, Naoya Saijo, Jin Ogata, Ken Sakurai, Kimihiko Oishi

引用次数: 0

Liver function trends in children with suspected drug-induced hepatocellular injury: A survey using an electronic medical records database. 疑似药物性肝细胞损伤儿童的肝功能趋势：一项使用电子病历数据库的调查

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15847

Masayoshi Nakakuni, Kosuke Nakano, Ayano Inui, Shinji Kobayashi, Naoko Deguchi, Seiji Mitsui, Takeshi Kuriyama, Seiko Miyazaki

{"title":"Liver function trends in children with suspected drug-induced hepatocellular injury: A survey using an electronic medical records database.","authors":"Masayoshi Nakakuni, Kosuke Nakano, Ayano Inui, Shinji Kobayashi, Naoko Deguchi, Seiji Mitsui, Takeshi Kuriyama, Seiko Miyazaki","doi":"10.1111/ped.15847","DOIUrl":"10.1111/ped.15847","url":null,"abstract":"Background: Drug-induced liver injury (DILI) is a common adverse drug event with limited pediatric data in the literature. This study aimed to use pediatric electronic medical records to assess hepatocellular DILI in pediatric patients who were prescribed liver-injury-inducing drugs.Methods: The Pediatric Medical Information Collection System (P-MICS) is a centralized database integrating electronic medical records from over 40 medical pediatric centers. Pediatric patients in the P-MICS with serum alanine aminotransferase (ALT) levels five or more times the upper limit of normal and who were below 15 years of age were selected. Those with liver diseases unrelated to drug-induced causes were excluded. We identified drugs prescribed 2 to 90 days before the first elevated ALT reading. High-risk liver-injury-causing drugs were determined based on the LiverTox score. We analyzed post-event ALT and total bilirubin levels (TB) and DILI management.Results: Of the 817 patients with suspected DILI, 251 were prescribed four drugs identified as high-risk drugs for hepatocellular DILI: methotrexate (n = 129), aspirin (n = 82), vancomycin (n = 58), and cyclophosphamide (n = 51). The median ALT level at the first event was 245 U/L. Approximately 35% of methotrexate users and cyclophosphamide users experienced recurrent ALT elevation. Some methotrexate users also showed TB elevation. Discontinuation of high-risk drugs resulted in fewer relapses and TB elevations than pharmacotherapy.Conclusions: The P-MICS effectively identifies pediatric patients with potential liver injury and tracks liver function in those prescribed liver-injury-causing drugs. This study underscores liver injury risks in pediatric anticancer drug users, highlighting the utility of the P-MICS in monitoring off-label drug safety in children.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15847"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Febrile infant with bacteremia caused by group B Streptococcus and coronavirus disease 2019 during the pandemic. 大流行期间由2019年B群链球菌和冠状病毒病引起的发热婴儿菌血症。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70033

Miho Ikeda, Shinsuke Mizuno, Yukari Aida, Masaaki Kugo, Yasuo Nakagishi, Masashi Kasai

引用次数: 0

ACVRL1 and MTHFR double variants in an adolescent with paradoxical cerebral embolism. ACVRL1和MTHFR双变异体在青少年脑栓塞中的应用

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70025

Takeshi Sato, Yosuke Ichihashi, Hikaru Tsuruta, Po-Sung Chu, Takenori Akiyama, Tomoyuki Hishida, Tomonobu Hasegawa

引用次数: 0

A case of acute pancreatitis associated with food protein-induced enterocolitis syndrome. 急性胰腺炎合并食物蛋白性小肠结肠炎综合征1例。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70045

Tetsuro Fujino, Aki Hotta, Ayumi Nakata, Masumi Okuda, Yasuhiro Takeshima

引用次数: 0

Retrospective evaluation of mild encephalitis/encephalopathy with a reversible splenial lesion in children. 儿童轻度脑炎/脑病伴可逆性脾损害的回顾性评价。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15869

Xin Li, Suzhen Sun, Huifeng Zhang

{"title":"Retrospective evaluation of mild encephalitis/encephalopathy with a reversible splenial lesion in children.","authors":"Xin Li, Suzhen Sun, Huifeng Zhang","doi":"10.1111/ped.15869","DOIUrl":"10.1111/ped.15869","url":null,"abstract":"Background: Comprehensive documentation on consecutive years of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children is lacking. This study aims to provide an in-depth analysis of the clinical profiles of MERS in children across different age groups, focusing on pathogens and recovery time.Methods: In this retrospective study, 43 patients diagnosed with MERS were enrolled between December 2017 and November 2021. Due to different clinical manifestations at different ages, we categorized them into two age groups: the 6-year-old or younger group and the over 6-year-old group. Clinical data were described and compared for these age cohorts.Results: Sixty percent of the cases occurred during winter, with two distinct peaks in onset age, at 1-3 years of age and 7-8 years of age. Intestinal infections were prevalent among children aged below 6 years, mainly caused by rotavirus; convulsion was the most common symptom (92.6% vs. 50%, p = 0.005). Conversely, respiratory tract infections were often observed in children older than 6 years of age, which were mainly attributed to mycoplasma pneumonia; headache and dizziness were characteristic symptoms (62.5% vs. 18.5%, p = 0.003). No significant differences were found in treatment outcomes between the two age groups. Nonetheless, MERS type II exhibited a notably longer clinical recovery time than type I (4.8 ± 1.7 vs. 8.2 ± 5.5).Conclusion: Mild encephalitis/encephalopathy with a reversible splenial lesion exhibits a distinct seasonal pattern with varied clinical manifestations across different age groups. Although the prognosis was favorable, discernible differences in clinical symptoms and pathogens were observed between the two age cohorts. It was noted that the clinical recovery time for MERS type II was comparatively protracted in comparison with type I.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15869"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of the effect of inhaled β₂ agonist on lung sounds of children with acute bronchiolitis. 吸入β2激动剂对急性毛细支气管炎患儿肺音影响的评价。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70053

Yu Kuramochi, Mami Ichinose, Takashi Matsushita, Takanori Kagawa, Takashi Sakama, Kota Hirai, Hiroyuki Furuya, Fumio Niimura, Hiroyuki Mochizuki

{"title":"Evaluation of the effect of inhaled β2 agonist on lung sounds of children with acute bronchiolitis.","authors":"Yu Kuramochi, Mami Ichinose, Takashi Matsushita, Takanori Kagawa, Takashi Sakama, Kota Hirai, Hiroyuki Furuya, Fumio Niimura, Hiroyuki Mochizuki","doi":"10.1111/ped.70053","DOIUrl":"https://doi.org/10.1111/ped.70053","url":null,"abstract":"Background: Discussions regarding the treatment of acute bronchiolitis are ongoing. In this study, we investigated the effects of bronchodilators in infants with viral bronchiolitis using a lung sound analysis.Methods: Subjects were hospitalized children diagnosed with viral acute bronchiolitis who received inhaled short-acting inhaled beta 2-agonist (SABA). Lung sounds were collected before and after SABA inhalation, and imaged and quantified using a dedicated analysis system to objectively evaluate the effects of SABA. Furthermore, we investigated the influence of the child's clinical symptoms (clinical score, SpO2 value, hospitalization days, etc.), past history and family history of allergic diseases on the changes in lung sounds after SABA inhalation.Results: Twenty-six children (male: female = 16: 10, median age: 11 months) participated in the study, and wheezes on the lung sound spectrogram disappeared or decreased after inhalation of SABA in 57.7% (n = 15). However, no improvement in the low-pitched sounds of the lung spectrogram was evident, and no significant change was observed in the exhalation/inspiration power ratio. Although SpO2 in the group whose wheezes improved due to SABA inhalation was significantly lower than that in the group without improvement (p = 0.008), there were no significant differences in other factors.Conclusion: The lung sound analysis confirmed that wheezes improved after SABA inhalation in half of the infants with acute viral bronchiolitis. However, since there was no improvement in clinical symptoms or low-pitched sounds, it was hypothesized that respiratory dysfunctions were caused by various mechanisms in infants with acute bronchiolitis.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70053"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Predicting fracture occurrence and localization on neonatal clavicle fractures: A multi-centric analysis. 预测新生儿锁骨骨折的发生和定位：一项多中心分析。

IF 0.9 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70207

Batuhan Gencer, Nuri Koray Ülgen, Hüseyin Gökhan Karadavut, Fatih Yağbasan, Şeyma Bütün Türk, Özgür Doğan

{"title":"Predicting fracture occurrence and localization on neonatal clavicle fractures: A multi-centric analysis.","authors":"Batuhan Gencer, Nuri Koray Ülgen, Hüseyin Gökhan Karadavut, Fatih Yağbasan, Şeyma Bütün Türk, Özgür Doğan","doi":"10.1111/ped.70207","DOIUrl":"10.1111/ped.70207","url":null,"abstract":"Background: Our objective was to identify the factors that influence the occurrence and localization of neonatal clavicle fractures and to determine which risk factor is most effective and to what extent.Methods: A total of 66 neonates diagnosed with a neonatal clavicle fracture and a control group consisting of 850 neonates without fractures were analyzed. All patients were evaluated by the following criteria: gestational age, birth weight, gender, type of delivery, unilateral absence of the postpartum Moro reflex, maternal age at the time of delivery, number of deliveries, and presence of maternal comorbidities.Results: The study and control groups were found to differ statistically significantly concerning gestational age, birth weight, type of delivery, and the unilateral absence of the Moro reflex (p < 0.05 for each). Vaginal delivery increased the risk of a neonatal clavicle fracture occurring by a factor of 14.27 (p < 0.001, OR = 14.27, 95% CI: 5.2-38.9). Right-sided neonatal clavicle fractures increased the risk of lateral one-third fractures by a factor of 6.2 (p = 0.037, OR = 6.2, 95% CI: 6.2-47.6).Conclusions: The occurrence of neonatal clavicle fractures related to birth can be predicted to a certain extent, but the specific fracture levels remain difficult to ascertain. Although gestational age, birth weight, and number of deliveries of the mother are important parameters in the detection of neonatal clavicle fractures, the sole effective parameter in determining the level of the fracture is the side, and the incidence of lateral level fractures increases in right-sided clavicle fractures.Level of evidence: Prognostic level II study.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70207"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes. 原发性系统性肉碱缺乏症：表型变异、诊断挑战和长期结果。

IF 0.9 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70211

Eymen Pınar, Tanyel Zubarioglu, Hanım Babazade, Kağan Çalışgan, Mehmet Şerif Cansever, Ertuğrul Kıykım, Çiğdem Aktuğlu Zeybek

{"title":"Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.","authors":"Eymen Pınar, Tanyel Zubarioglu, Hanım Babazade, Kağan Çalışgan, Mehmet Şerif Cansever, Ertuğrul Kıykım, Çiğdem Aktuğlu Zeybek","doi":"10.1111/ped.70211","DOIUrl":"https://doi.org/10.1111/ped.70211","url":null,"abstract":"Background: Primary systemic carnitine deficiency (CDSP) is a rare inherited metabolic disorder characterized by impaired carnitine transport due to mutations in the SLC22A5 gene, leading to impaired mitochondrial fatty acid oxidation. The aim of this retrospective, descriptive study was to investigate the clinical, biochemical, and molecular features of CDSP in Turkey, where the lack of a national expanded metabolic screening program contributes to delayed diagnosis and severe complications.Methods: The clinical, biochemical, and molecular profiles of 12 patients from eight families diagnosed between 2003 and 2025 were retrospectively analyzed. Data on family history, consanguinity, clinical manifestations-including cardiomyopathy, muscle weakness, neurological symptoms, and liver dysfunction-plasma free carnitine levels, and echocardiographic measurements were collected and analyzed.Results: The majority of patients (92%) were from consanguineous families. Cardiomyopathy was the most common clinical feature (75%), followed by muscle weakness (50%), neurological symptoms (42%), and liver dysfunction (33%). A novel SLC22A5 variant (c.125T>C; p.Leu42Pro) was identified that expands the known genetic spectrum of CDSP. Oral carnitine supplementation significantly increased plasma free carnitine levels (p = 0.01) and improved long-term interventricular septal thickness Z-scores (p = 0.045). In addition, cholestasis was observed in two patients, suggesting an expanded disease phenotype.Conclusion: These results emphasize the crucial role of early detection and family screening in the prevention of life-threatening complications associated with CDSP. Long-term carnitine therapy improves metabolic and cardiac outcomes, underscoring the need for early intervention and inclusion of CDSP in national newborn screening programs.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70211"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early diagnosis of Zellweger syndrome through a Nationwide Liver Disease Registry System (CIRCLe). 通过全国肝病登记系统（CIRCLe）进行齐薇格综合征的早期诊断。

IF 0.9 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70210

Yasuaki Hachisu, Satoshi Nakano, Keiya Sato, Hideo Fukunaga, Hiroshi Nittono, Hisamitsu Hayashi, Mitsuyoshi Suzuki

引用次数: 0