Pediatric Investigation最新文献_第2页

Outcomes after surgical and nonsurgical treatment of pediatric cerebral cavernous malformation 小儿脑海绵畸形手术和非手术治疗后的疗效

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-06-11 DOI: 10.1002/ped4.12435

Haohao Zhang, Qishuai Yu, Zhiqi Mao, Liang Zhang, Xinguang Yu

{"title":"Outcomes after surgical and nonsurgical treatment of pediatric cerebral cavernous malformation","authors":"Haohao Zhang, Qishuai Yu, Zhiqi Mao, Liang Zhang, Xinguang Yu","doi":"10.1002/ped4.12435","DOIUrl":"https://doi.org/10.1002/ped4.12435","url":null,"abstract":"Pediatric cerebral cavernous malformation (CCM) is a rarely encountered vascular entity. Comparative study on surgical excision and nonsurgical management outcomes of CCM in pediatrics is limited.To determine the demographic characteristics, hemorrhage rate, and long‐term outcomes of pediatric patients with CCM.A retrospective study of pediatric patients with CCM in Chinese PLA General Hospital was conducted between January 2004 and January 2019. We compared the clinical characteristics, radiological features, and outcomes of the surgical and nonsurgical groups.Seventy‐nine children were included, with 69.6% being boys, and the average age was 11.8 ± 5.5 years. The annual retrospective hemorrhagic rate was 5.7% per patient per year. Fifty‐six children (70.9%) underwent surgical excision, and they were more likely to present with seizure symptoms (P = 0.011), have a higher proportion of larger lesion size (P = 0.008), less likely to have durations ≤10 days (P = 0.048), and less likely to have supratentorial deep CCM (P = 0.014) compared to children who received nonsurgical management. Total resection was achieved in most surgical cases (55, 98.2%). During the 143.9 ± 50.8 months of follow‐up, 44 patients (78.6%) achieved improvement, 12 patients (17.8%) remained the same, and two (3.6%) experienced worsening. In the nonsurgical management group, 14 children (60.9%) experienced symptom improvement, eight (34.8%) remained the same, and one (4.3%) worsened, with a re‐hemorrhagic risk of 8.7%.Surgical removal of pediatric CCM can eliminate the risk of hemorrhage and lead to satisfactory outcomes. For children undergoing nonsurgical management, long‐term close monitoring is essential due to the life‐long risk of hemorrhage.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141355660","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

Infant anogenital digitate keratoses: A common but often neglected disease 婴儿肛门指状角化病：一种常见但常被忽视的疾病

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-06-07 DOI: 10.1002/ped4.12430

Jiayue Wang, Bin Zhang

引用次数: 0

Low‐dose immune tolerance induction for severe hemophilia A inhibitor patients: Immunosuppressants are generally not necessary for inhibitor‐titer below 200 BU/mL 对严重血友病 A 抑制剂患者进行小剂量免疫耐受诱导：抑制剂滴度低于 200 BU/mL 的患者一般无需使用免疫抑制剂

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-06-06 DOI: 10.1002/ped4.12429

Zhengping Li, Jie Sun, Zekun Li, Zhenping Chen, Guoqing Liu, W. Yao, Xiaoling Cheng, Gang Li, Y. Zhen, Di Ai, Yaohan Zhou, Qianqian Mao, Man-Chiu Poon, Runhui Wu

{"title":"Low‐dose immune tolerance induction for severe hemophilia A inhibitor patients: Immunosuppressants are generally not necessary for inhibitor‐titer below 200 BU/mL","authors":"Zhengping Li, Jie Sun, Zekun Li, Zhenping Chen, Guoqing Liu, W. Yao, Xiaoling Cheng, Gang Li, Y. Zhen, Di Ai, Yaohan Zhou, Qianqian Mao, Man-Chiu Poon, Runhui Wu","doi":"10.1002/ped4.12429","DOIUrl":"https://doi.org/10.1002/ped4.12429","url":null,"abstract":"It remained unclear that the efficacy comparison between low‐dose immune tolerance induction (LD‐ITI) incorporating immunosuppressants (IS) when severe hemophilia A (SHA) patients had inhibitor‐titer ≥200 Bethesda Units (BU)/mL (LD‐ITI‐IS200 regimen) and LD‐ITI combining with IS when SHA patients had inhibitor‐titer ≥40 BU/mL (LD‐ITI‐IS40 regimen).To compare the efficacy of the LD‐ITI‐IS200 regimen with that of the LD‐ITI‐IS40 regimen for SHA patients with high‐titer inhibitors.A prospective cohort study on patients receiving LD‐ITI‐IS200 compared to those receiving LD‐ITI‐IS40 from January 2021 to December 2023. Both received LD‐ITI [FVIII 50 IU/kg every other day]. IS (rituximab + prednisone) was added when peak inhibitor tier ≥200 BU/mL in the LD‐ITI‐IS200 regimen and ≥40 BU/mL in the LD‐ITI‐IS40 regimen. Success is defined as a negative inhibitor plus FVIII recovery ≥66% of the expected.We enrolled 30 patients on LD‐ITI‐IS200 and 64 patients on LD‐ITI‐IS40, with similar baseline clinical characteristics. A lower IS‐use rate was discovered in the LD‐ITI‐IS200 regimen compared to the LD‐ITI‐IS40 regimen (30.0% vs. 62.5%). The two regimens (LD‐ITI‐IS200 vs. LD‐ITI‐IS40) had similar success rate (70.0% vs. 79.7%), median time to success (9.4 vs. 10.6 months), and annualized bleeding rate during ITI (3.7 vs. 2.8). The cost to success was lower for LD‐ITI‐IS200 than for LD‐ITI‐IS40 (2107 vs. 3256 US Dollar/kg). Among patients with peak inhibitor‐titer 40–199 BU/mL, 10 non‐IS‐using (on LD‐ITI‐IS200 regimen) and 28 IS‐using (on LD‐ITI‐IS40 regimen) had similar success rates (70.0% vs. 78.6%) and time to success (9.0 vs. 8.8 months).In LD‐ITI, IS are not necessary for inhibitor titer <200 BU/mL.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141377709","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

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China. 中国艾卡迪-古蒂耶尔综合征患儿的神经表型和遗传分析。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2024-05-30 eCollection Date: 2024-09-01 DOI: 10.1002/ped4.12428

Shen Zhang, Weihua Zhang, Changhong Ding, Xiaotun Ren, Fang Fang, Yun Wu

{"title":"Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.","authors":"Shen Zhang, Weihua Zhang, Changhong Ding, Xiaotun Ren, Fang Fang, Yun Wu","doi":"10.1002/ped4.12428","DOIUrl":"https://doi.org/10.1002/ped4.12428","url":null,"abstract":"Importance: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited.Objective: To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese population.Methods: Clinical features and neuroimaging results of the patients diagnosed with AGS from Beijing Children's Hospital between January 2018 and January 2022 were collected. Whole exome sequencing was used for genetic analysis.Results: A total of 15 patients was included, all presenting with various neurological symptoms, including developmental delay (100%), motor skill impairment (100%), language disability (78.6%), dystonia (93.3%), microcephaly (73.3%), sleep disorders (26.7%), regression (20.0%), vessel disease (6.7%), and epilepsy (6.7%). Neuroimaging revealed intracranial calcification (86.7%), cerebral atrophy (73.3%), and leukodystrophy (73.3%). Seven genes were identified, with TREX1 being the most common (40.0%, 6/15), followed by IFIH1 (20.0%, 3/15). Variant c.294dupA (p.C99Mfs*3) was detected in four unrelated patients, accounting for 66.7% (4/6) patients with the TREX1 variant. A literature review showed that TREX1 gene mutations in 35.6% (21/59) of AGS patients among the Chinese population.Interpretation: Neurological symptoms are the most prevalent and severe presentation of AGS. Diagnosis may be considered when symptoms such as developmental delay, dystonia, microcephaly, brain calcification, and leukodystrophy emerge. TREX1 mutations are predominant in the Chinese population.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

International consensus on early rehabilitation and nutritional management for infants at high risk of neurological impairments. 关于神经损伤高风险婴儿早期康复和营养管理的国际共识。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2024-05-26 eCollection Date: 2024-09-01 DOI: 10.1002/ped4.12426

Huiying Qiu, Huayan Zhang, Jingbo Zhang, Fengyi Kuo, Koen Huysentruyt, Christopher Smith, Ankita M Bhutada, Nong Xiao, Kaishou Xu

引用次数: 0

Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family 一个中国家庭中溶质运载家族 7A 成员 7 的新型突变导致的赖氨酸尿蛋白不耐受症

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-05-17 DOI: 10.1002/ped4.12427

Yilin Pang, Feng Huo, Xiao Liu, Yimu Fan, Zhezhe Zhang, Jie Wu, Quan Wang

引用次数: 0

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis 中国色素性血管瘤患儿队列中的GNA11/GNAQ基因体变异

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-04-17 DOI: 10.1002/ped4.12424

Bin Zhang, R. He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin Ma

{"title":"Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis","authors":"Bin Zhang, R. He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin Ma","doi":"10.1002/ped4.12424","DOIUrl":"https://doi.org/10.1002/ped4.12424","url":null,"abstract":"Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population.To identify pathogenic mutations in pediatric patients with PPV within the Chinese population.We performed whole‐exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep‐targeted sequencing was conducted to validate the somatic mutations. A genotype‐phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study.Thirteen patients were enrolled, all diagnosed with the cesioflammea type of PPV, except for one patient with an unclassifiable type. We identified somatic GNA11 c.547C>T (p.R183C) variant in seven patients and GNAQ c.548G>A (p.R183Q) in four patients, with low allelic fractions ranging from 2.1% to 8.6% through ultradeep sequencing. Besides, a GNAQ c.548G>A (p.R183Q) variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via WES. The genotype‐phenotype correlation analysis, involving 15 patients with a GNA11 variant and 10 with a GNAQ variant, revealed that facial capillary malformation (87% vs. 50%, P = 0.075) and ocular melanocytosis (80% vs. 40%, P = 0.087) appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ mutations. All four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 variant.Our study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11, thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140693723","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

Association between balloon atrial septostomy and prostaglandin E1 therapy until repair of transposition of the great arteries in neonates 新生儿大动脉转位修复前球囊心房间隔成形术与前列腺素 E1 治疗之间的关系

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-04-08 DOI: 10.1002/ped4.12425

Samantha Gilg, Sebastián Acosta, Rohit S. Loomba, Claire Rizk, Gary E. Stapleton, David Faraoni, F. Savorgnan

引用次数: 0

Bilateral globus pallidus internus‐deep brain stimulation in a 5‐year‐old boy with SGCE‐related myoclonus dystonia syndrome 对一名患有 SGCE 相关肌阵挛张力障碍综合征的 5 岁男孩进行双侧苍白球内侧深部脑刺激治疗

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-03-28 DOI: 10.1002/ped4.12421

Xiaojuan Tian, Changhong Ding, Ming Liu, Lifang Dai, Zixing Xie, Tie Fang

引用次数: 0

Instruction for Authors. 作者须知。

IF 2.2 4区医学

Pediatric Investigation Pub Date : 2024-03-19 eCollection Date: 2024-03-01 DOI: 10.1002/ped4.12423

引用次数: 0