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Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome 越南威斯科特-阿尔德里奇综合征患者的 WAS 基因突变谱
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-04-20 DOI: 10.1111/ped.15770
Ho Quoc Chuong, Phan Thi Xinh, Duong Bich Tram, Nguyen Thi Thanh Ha, Tuan Minh Nguyen, Phan Nguyen Lien Anh, Nguyen Dinh Van, Nguyen Hoang Mai Anh, Phu Chi Dung, Huynh Nghia, Hoang Anh Vu
{"title":"Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome","authors":"Ho Quoc Chuong, Phan Thi Xinh, Duong Bich Tram, Nguyen Thi Thanh Ha, Tuan Minh Nguyen, Phan Nguyen Lien Anh, Nguyen Dinh Van, Nguyen Hoang Mai Anh, Phu Chi Dung, Huynh Nghia, Hoang Anh Vu","doi":"10.1111/ped.15770","DOIUrl":"https://doi.org/10.1111/ped.15770","url":null,"abstract":"Background<jats:italic>WAS</jats:italic> gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.MethodsWe recruited 97 male, unrelated patients with WAS and analyzed <jats:italic>WAS</jats:italic> gene mutation using Sanger sequencing technology.ResultsWe identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C&gt;T (p.R13X) and c.374G&gt;A (p.G125E) each of which occurs twice in unrelated patients.ConclusionOur data enrich the mutational spectrum of the <jats:italic>WAS</jats:italic> gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"21 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140626270","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
Identifying novel disease genes and revealing the pathomechanism of monogenic diseases 鉴定新型疾病基因，揭示单基因疾病的病理机制
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-04-20 DOI: 10.1111/ped.15760
Noriko Miyake
{"title":"Identifying novel disease genes and revealing the pathomechanism of monogenic diseases","authors":"Noriko Miyake","doi":"10.1111/ped.15760","DOIUrl":"https://doi.org/10.1111/ped.15760","url":null,"abstract":"Diseases are caused by genetic and/or environmental factors. It is important to understand the pathomechanism of monogenic diseases that are caused only by genetic factors, especially prenatal‐ or childhood‐onset diseases for pediatricians. Identifying “novel” disease genes and elucidating how genomic changes lead to human phenotypes would develop new therapeutic approaches for rare diseases for which no fundamental cure has yet been established. Genomic analysis has evolved along with the development of analytical techniques, from Sanger sequencing (first‐generation sequencing) to techniques such as comparative genomic hybridization, massive parallel short‐read sequencing (using a next‐generation sequencer or second‐generation sequencer) and long‐read sequencing (using a next‐next generation sequencer or third‐generation sequencer). I have been researching human genetics using conventional and new technologies, together with my mentors and numerous collaborators, and have identified genes responsible for more than 60 diseases. Here, an overview of genomic analyses of monogenic diseases that aims to identify novel disease genes, and several examples using different approaches depending on the disease characteristics are presented.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"21 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140626057","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
Subspecialty Meetings of The Japan Pediatric Society 2024 2024 年日本儿科学会亚专科会议
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-02-24 DOI: 10.1111/ped.15751
{"title":"Subspecialty Meetings of The Japan Pediatric Society 2024","authors":"","doi":"10.1111/ped.15751","DOIUrl":"https://doi.org/10.1111/ped.15751","url":null,"abstract":"","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"33 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139954770","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
Hypereosinophilic syndrome with eosinophilic cystitis in children 儿童嗜酸性粒细胞增多综合征伴嗜酸性粒细胞增多性膀胱炎
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-12 DOI: 10.1111/ped.15701
Mei Shang, Lianjun Gao, Yingying Zhang, Hongfang Ding
{"title":"Hypereosinophilic syndrome with eosinophilic cystitis in children","authors":"Mei Shang, Lianjun Gao, Yingying Zhang, Hongfang Ding","doi":"10.1111/ped.15701","DOIUrl":"https://doi.org/10.1111/ped.15701","url":null,"abstract":"<h2> CONFLICT OF INTEREST STATEMENT</h2>\u0000<p>The authors declare no conflict of interest.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"16 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139461202","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
Acute pancreatitis in a pediatric patient with polycystic kidney disease 一名多囊肾儿科患者的急性胰腺炎
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-12 DOI: 10.1111/ped.15719
Kentaro Takekawa, Kouki Tomari, Takashi Matsuoka
{"title":"Acute pancreatitis in a pediatric patient with polycystic kidney disease","authors":"Kentaro Takekawa, Kouki Tomari, Takashi Matsuoka","doi":"10.1111/ped.15719","DOIUrl":"https://doi.org/10.1111/ped.15719","url":null,"abstract":"<h2> CONFLICT OF INTEREST STATEMENT</h2>\u0000<p>The authors declare no conflict of interest.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"141 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139461165","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
Severe hemolytic anemia in a glucose-6-phosphate dehydrogenase-deficient child with COVID-19 患有 COVID-19 的葡萄糖-6-磷酸脱氢酶缺乏症患儿出现严重溶血性贫血
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-12 DOI: 10.1111/ped.15717
Mika Dofuku, Daisuke Tamura, Marina Mizobe, Koyuru Kurane, Yuriko Hayashi, Hirokazu Kimura, Akira Shimada
{"title":"Severe hemolytic anemia in a glucose-6-phosphate dehydrogenase-deficient child with COVID-19","authors":"Mika Dofuku, Daisuke Tamura, Marina Mizobe, Koyuru Kurane, Yuriko Hayashi, Hirokazu Kimura, Akira Shimada","doi":"10.1111/ped.15717","DOIUrl":"https://doi.org/10.1111/ped.15717","url":null,"abstract":"<h2> CONFLICT OF INTEREST STATEMENT</h2>\u0000<p>The authors declare no conflict of interest.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"86 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139461241","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
Late-onset 5,10-methylenetetrahydrofolate reductase deficiency with subacute disturbance of consciousness 迟发性 5,10-亚甲基四氢叶酸还原酶缺乏症伴有亚急性意识障碍
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-12 DOI: 10.1111/ped.15720
Maki Miura, Haruo Nishijima, Chieko Suzuki, Masahiko Tomiyama
{"title":"Late-onset 5,10-methylenetetrahydrofolate reductase deficiency with subacute disturbance of consciousness","authors":"Maki Miura, Haruo Nishijima, Chieko Suzuki, Masahiko Tomiyama","doi":"10.1111/ped.15720","DOIUrl":"https://doi.org/10.1111/ped.15720","url":null,"abstract":"<h2> CONFLICT OF INTEREST STATEMENT</h2>\u0000<p>The authors declare no conflict of interest.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"1 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139461160","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
Cerebellar injury in preterm infants less than 28 weeks gestational age. 胎龄不足 28 周的早产儿的小脑损伤。
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-01 DOI: 10.1111/ped.15734
Yoshihito Sasaki, Kazuhisa Nemoto, Shunji Goto, Eiji Kato
{"title":"Cerebellar injury in preterm infants less than 28 weeks gestational age.","authors":"Yoshihito Sasaki, Kazuhisa Nemoto, Shunji Goto, Eiji Kato","doi":"10.1111/ped.15734","DOIUrl":"10.1111/ped.15734","url":null,"abstract":"<p><strong>Background: </strong>Cerebellar injury is one of the perinatal complications in preterm infants. Recent studies have highlighted the effect of perinatal complications on neurological morbidity. We investigated the perinatal risk factors and morbidity for cerebellar injury in extremely premature infants.</p><p><strong>Methods: </strong>This retrospective cohort study included 285 infants born between April 2009 and December 2020 at gestational age <28 weeks at our institution. The infants were divided into two groups based on magnetic resonance imaging findings: those with and without cerebellar injury. We performed a statistical analysis of the perinatal background and short-term morbidity of the two groups.</p><p><strong>Results: </strong>Significant differences (p < 0.05) were observed between the groups with respect to the perinatal background, especially gestational weeks, birthweight, and hemoglobin values at birth. In the short-term morbidity, significant differences (p < 0.05) were observed in the incidence of respiratory distress syndrome, chronic lung disease, hydrocephalus, severe intraventricular hemorrhage (IVH), and cerebellar hemorrhage. Extensive cerebellar lesions, such as cerebellar agenesis or global cerebellar hypoplasia, accounted for 11 of the 22 cases of cerebellar injury; seven of the 11 cases had severe IVH in addition to cerebellar hemorrhage.</p><p><strong>Conclusions: </strong>Gestational age was significantly lower in the cerebellar injury group. The combination of severe IVH and cerebellar hemorrhage may promote cerebellar injury.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"66 1","pages":"e15734"},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058502","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
A pediatric suspected case of Guillain-Barré syndrome following respiratory syncytial virus RSV infection. 呼吸道合胞病毒 RSV 感染后的格林-巴利综合征儿科疑似病例。
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-01 DOI: 10.1111/ped.15733
Manami Ueshima, Gaku Murakami, Yui Hamada, Shota Yuasa
{"title":"A pediatric suspected case of Guillain-Barré syndrome following respiratory syncytial virus RSV infection.","authors":"Manami Ueshima, Gaku Murakami, Yui Hamada, Shota Yuasa","doi":"10.1111/ped.15733","DOIUrl":"10.1111/ped.15733","url":null,"abstract":"","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"66 1","pages":"e15733"},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139973000","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
Serial changes in B-cell subsets and immunoglobulin G4 levels in paragonimiasis. 副猪嗜血杆菌 B 细胞亚群和免疫球蛋白 G4 水平的序列变化。
IF 1.4 4区 医学
Pediatrics International Pub Date : 2024-01-01 DOI: 10.1111/ped.15727
Keisuke Taku, Manami Ogata, Takayuki Hoshina, Haruhiko Maruyama, Ayako Yoshida, Koichi Kusuhara
{"title":"Serial changes in B-cell subsets and immunoglobulin G4 levels in paragonimiasis.","authors":"Keisuke Taku, Manami Ogata, Takayuki Hoshina, Haruhiko Maruyama, Ayako Yoshida, Koichi Kusuhara","doi":"10.1111/ped.15727","DOIUrl":"10.1111/ped.15727","url":null,"abstract":"","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"66 1","pages":"e15727"},"PeriodicalIF":1.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139973098","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
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