Pediatrics International最新文献_第2页

A high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity.

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15872

Haruka Hiroki, Kunihiko Moriya, Toru Uchiyama, Fumi Hirose, Akifumi Endo, Iori Sato, Yasuhiro Tomaru, Kazumi Sawakami, Norio Shimizu, Hidenori Ohnishi, Tomohiro Morio, Kohsuke Imai

{"title":"A high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity.","authors":"Haruka Hiroki, Kunihiko Moriya, Toru Uchiyama, Fumi Hirose, Akifumi Endo, Iori Sato, Yasuhiro Tomaru, Kazumi Sawakami, Norio Shimizu, Hidenori Ohnishi, Tomohiro Morio, Kohsuke Imai","doi":"10.1111/ped.15872","DOIUrl":"https://doi.org/10.1111/ped.15872","url":null,"abstract":"Introduction: Severe combined immunodeficiency (SCID) due to T-cell deficiency is the most severe form of inborn error of immunity (IEI). It frequently leads to severe and recurrent infections and the first infection or live vaccines can sometimes be fatal. Patients with B-cell deficiency (BCD), such as X-linked agammaglobulinaemia (XLA), also suffer from severe or recurrent infections. Thus, early diagnosis via newborn screening (NBS) is suitable for these types of diseases. We developed a lyophylized TaqMan-based quantitative polymerase chain reaction (qPCR) kit with primers and probes for the simultaneous detection of T-cell receptor excision circles (TREC) and κ-deleting recombination excision circles (KREC). We also developed a fully automated DNA extraction and purification process using Magtration technology from dried blood spots (DBS), enabling high-throughput analysis METHODS: We examined 15,258 stored DBS collected from 2014 to 2015 by this method. Newborn screening samples from children with a known SCID, XLA or ataxia-telangiectasia (AT) were also examined as positive controls.Results: RPPH1 (internal control), TREC, and KREC all had near-normal distributions. One specimen was below the cut-off for TREC (0.00657%) after exclusion of 36 specimens due to the failure of DNA extraction (0.23%). The TREC levels in the patients with AT and SCID, and KREC levels in the patients with AT and XLA were all below cut-off or absent.Conclusions: This assay would allow the establishment of qPCR-based NBS in unfamiliar laboratories leading to the early diagnosis of SCID and BCD.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15872"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692893","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

Quality improvement activities in an NICU: Stop UNplanned eXtubation (SUNX).

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15889

Hidehiko Maruyama, Shoichiro Amari, Kana Yamada, Ayumi Ohshima, Kanako Sugashima, Naomi Homma, Tetsuya Isayama, Yushi Ito

{"title":"Quality improvement activities in an NICU: Stop UNplanned eXtubation (SUNX).","authors":"Hidehiko Maruyama, Shoichiro Amari, Kana Yamada, Ayumi Ohshima, Kanako Sugashima, Naomi Homma, Tetsuya Isayama, Yushi Ito","doi":"10.1111/ped.15889","DOIUrl":"https://doi.org/10.1111/ped.15889","url":null,"abstract":"Background: A target unplanned extubation (UE) rate of <1/100 ventilator days has been recommended. Our hospital has 21 NICU beds (12 beds in NICU 2 and 3 for extremely low birth weight [ELBW] infants). In 2020, we experienced an abrupt UE increase, leading to the initiation of the Stop UNplanned eXtubation (SUNX) project. At that time, UE rate was 1.30/100 ventilator days. The aim of the SUNX project was to keep the low UE rate.Methods: We collected data on UE rates from April 2019 to March 2024. The intervention was implemented through Plan-Do-Study-Act cycles. Cause analysis with the Pareto chart led to the drivers, we had to deal with: judicious use of sedations, Endotracheal tube (ETT) tape loosening, and stuff number during infant care. Additionally, we did simulation training for sudden SpO2 decrease and UE event review. We also gathered data about ELBW infant admission and their NICU stay.Results: The UE rate in total NICU was kept lower than 1/100 ventilator days after the intervention. After our intervention, we found no special cause variation. It meant that our intervention was not statistically significant. However, our intervention gradually penetrated into the NICU daily practices; judicious use of sedation, ETT tape template, body position change by two nurses, UE event review, and so on. We continued a systematic approach to preventing UE.Conclusions: Although abrupt UE increase in 2020 might be a special cause variation, SUNX activities brought us systematic approach for UE prevention.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15889"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701093","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

Risk score for non-vaccination of voluntary vaccines: The Japan Environment and Children's Study.

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15888

Masashi Hotta, Kimiko Ueda, Satoyo Ikehara, Kanami Tanigawa, Hirofumi Nakayama, Kazuko Wada, Tadashi Kimura, Keiichi Ozono, Tomotaka Sobue, Hiroyasu Iso

{"title":"Risk score for non-vaccination of voluntary vaccines: The Japan Environment and Children's Study.","authors":"Masashi Hotta, Kimiko Ueda, Satoyo Ikehara, Kanami Tanigawa, Hirofumi Nakayama, Kazuko Wada, Tadashi Kimura, Keiichi Ozono, Tomotaka Sobue, Hiroyasu Iso","doi":"10.1111/ped.15888","DOIUrl":"https://doi.org/10.1111/ped.15888","url":null,"abstract":"Background: In Japan, as several important vaccines are still categorized as voluntary vaccines that require out-of-pocket payment, the vaccination coverage of voluntary vaccines is lower than that of routine vaccines. Thus, higher voluntary vaccination rates are desired. Herein, we used nationwide birth cohort data to create a voluntary vaccine risk score to identify high-risk individuals who were not vaccinated with voluntary vaccines.Methods: The data from 74,733; 73,571; and 74,360 infants were analyzed for rotavirus, mumps virus, and influenza virus vaccinations, respectively. The risk score for non-vaccination of voluntary vaccines was created from the regression coefficients of the logistic regression models.Results: The items included for the score resulted from the analysis were the mother's drug allergy history, mother's depression history, mother's educational background, father's educational background, household income, maternal smoking during pregnancy, paternal smoking during pregnancy, fertility treatment, number of siblings, maternal drinking at 1 month of age, maternal age, and maternal nationality. The mother's drug allergy history, mother's depression history, fertility treatment, maternal drinking at 1 month of age, and maternal nationality were factors not previously reported and associated with taking voluntary vaccine. The receiver operating characteristic curve of the risk score for non-vaccination of voluntary vaccines suggested that a score ≥16 predicted non-vaccinated infants for rotavirus, mumps virus, and influenza virus vaccines with 78.6%, 75.0%, and 74.5% sensitivity and 44.2%, 43.2%, and 37.1% specificity, respectively.Conclusions: We developed a risk score for non-vaccination of voluntary vaccines consisting of 10 domains with high sensitivity but low specificity.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15888"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796146","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

Immaturity of gut functions and induction of tolerance during early infancy. 婴儿期早期肠道功能不成熟和诱导耐受性。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15855

Yoshikazu Ohtsuka, Toshiaki Shimizu

引用次数: 0

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

Persistent candidemia and Candida endophthalmitis with relapsed acute lymphoblastic leukemia. 复发的急性淋巴细胞白血病伴有持续性念珠菌血症和念珠菌眼内炎。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15878

Yukihiro Matsukawa, Yuri Sawada, Yuhachi Ikeda, Takashi Taga

引用次数: 0

Liver function trends in children with suspected drug-induced hepatocellular injury: A survey using an electronic medical records database.

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":"https://doi.org/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

Retrospective evaluation of mild encephalitis/encephalopathy with a reversible splenial lesion in children.

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":"https://doi.org/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

Sublobar resection for pediatric intralobar pulmonary sequestration using indocyanine green fluorescence. 吲哚菁绿荧光在小儿叶内肺隔离中的叶下切除术。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15874

Ayako Takenouchi, Keita Terui, Shugo Komatsu, Satoru Oita, Yunosuke Kawaguchi, Katsuhiro Nishimura, Tomoro Hishiki

引用次数: 0

A novel in-frame deletion flanking exon 54 of the FBN1 gene in a Japanese girl with Marfan syndrome. 日本马凡氏综合征女孩FBN1基因54外显子的框架内缺失。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15857

Toshihiko Mori, Shigeto Fuse, Kazuna Hirai, Maki Katai, Hiroko Morisaki

引用次数: 0