Pediatric Investigation最新文献_第6页

Physicochemical compatibility of pentoxifylline injection with high-concentration parenteral medications. 己酮茶碱注射液与高浓度肠外药物的理化相容性。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-08-01 eCollection Date: 2023-12-01 DOI: 10.1002/ped4.12393

S M D K Ganga Senarathna, Tobias Strunk, Michael Petrovski, Sarah Woodland, Kevin T Batty

引用次数: 0

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis. 13例中国儿童角化性鱼鳞病的临床和遗传学研究。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-07-15 eCollection Date: 2023-09-01 DOI: 10.1002/ped4.12391

Zhou Yang, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma

{"title":"Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.","authors":"Zhou Yang, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma","doi":"10.1002/ped4.12391","DOIUrl":"10.1002/ped4.12391","url":null,"abstract":"Importance: Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.Objective: To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.Methods: Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.Results: Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis. A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis. Additionally, two truncation mutations in KRT10 were detected, leading to the development of generalized ichthyosiform erythroderma. Ear malformation and ectropion at birth, scalp involvement, and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.Interpretation: We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0e/3f/PED4-7-168.PMC10509410.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41168738","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

Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation. 应用庆大霉素软膏治疗无义突变儿童Nagashima型掌跖角化病。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-28 eCollection Date: 2023-09-01 DOI: 10.1002/ped4.12389

Shan Wang, Zhou Yang, Ying Liu, Huan Zhang, Zongyang Liu, Xiaoling Wang, Ying Li, Haihong Liu, Yonghong Yang, Lin Ma

{"title":"Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation.","authors":"Shan Wang, Zhou Yang, Ying Liu, Huan Zhang, Zongyang Liu, Xiaoling Wang, Ying Li, Haihong Liu, Yonghong Yang, Lin Ma","doi":"10.1002/ped4.12389","DOIUrl":"10.1002/ped4.12389","url":null,"abstract":"Importance: Nagashima-type palmoplantar keratosis (NPPK) is a hereditary dermatosis mostly caused by a nonsense mutation in SERPINB7. Despite the increasing interest in readthrough gentamicin treatment of NPPK, clinical evidence for this treatment is limited.Objective: This study aimed to provide further evidence for the use of topical gentamicin in the treatment of NPPK in children with nonsense mutations.Methods: We designed a bilaterally controlled study of topical gentamicin ointment. Children diagnosed with NPPK carrying nonsense mutations were enrolled in this study. A 0.1% gentamicin ointment was applied to one hand and an emollient to the other for 3 months. A bilateral comparison of the visual analog scale scores for clinical manifestations and safety was performed.Results: Ten children with NPPK were included in this study. In comparison with the emollient side, the topical gentamicin side showed significant improvements in hyperkeratosis, erythema, maceration, and desquamation after 1 and 3 months of treatment (P < 0.05). However, hyperhidrosis and odor did not improve significantly. No adverse events were observed during the systemic safety monitoring examinations.Interpretation: Topical gentamicin ointment showed good safety in the treatment of NPPK with nonsense mutations, indicating that it is a promising therapeutic choice in children with NPPK.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/db/2d/PED4-7-163.PMC10509405.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41146108","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

Kids gone wild - Alcohol use and patient characteristics in pediatric trauma during the coronavirus disease 2019 pandemic. 孩子们疯了——2019年冠状病毒病大流行期间儿科创伤中的酒精使用和患者特征。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-28 eCollection Date: 2023-12-01 DOI: 10.1002/ped4.12388

Neesha S Patel, Brett H Waibel, Bennett J Berning, Wt Hillman Terzian, Charity H Evans, Angela M Hanna, Mark E Hamill

{"title":"Kids gone wild - Alcohol use and patient characteristics in pediatric trauma during the coronavirus disease 2019 pandemic.","authors":"Neesha S Patel, Brett H Waibel, Bennett J Berning, Wt Hillman Terzian, Charity H Evans, Angela M Hanna, Mark E Hamill","doi":"10.1002/ped4.12388","DOIUrl":"10.1002/ped4.12388","url":null,"abstract":"Importance: Reported coronavirus disease 2019 (COVID-19) pandemic effects on pediatric trauma have been variable.Objective: We investigated the characteristics of pediatric trauma including alcohol use during the pandemic at our urban trauma center.Methods: The trauma database of our adult level 1 trauma center was queried for all pediatric (age ≤ 18 years) patients presenting between March 1, 2020, and October 30, 2020. Data from 2017 to 2019 served as a control. Variables analyzed included demographics, mechanisms, injury severity, hospitalization characteristics, and positive blood alcohol.Results: Pandemic pediatric trauma volumes increased by 67.5% (330/year vs. 197/year). Pandemic patients were younger (median age 13 vs. 14 years, P = 0.011), but similar in gender, ethnicity, severity, hospital length of stay, mortality, and rates of penetrating injury. Falls doubled (79/year vs. 34/year) and shifted away from high falls >6 meters (0% vs. 7.9%) to moderate falls 1-6 meters (58.2% vs. 51.5%) (P = 0.028). Transportation injury rates were similar however mechanisms shifted from motor vehicle crashes (-13.5%) towards recreational vehicles including motorcycles (+2.1%), all-terrain vehicles (+8.6%), and bicycles (+3.8%) (P = 0.018). Pediatric-positive blood alcohol was significantly higher (11.2% vs. 5.1%, P < 0.001), especially for ages 14-18 years (21.7% vs. 9.5%, P < 0.001).Interpretation: Pediatric trauma volumes during the COVID-19 pandemic increased. Pandemic patients had more recreational vehicle injuries and higher rates of positive blood alcohol. This suggests an increased need for alcohol assessment and targeted interventions in the pediatric population during pandemics or periods of school closures.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75535592","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

Pityriasis versicolor on the scalp: An unusual distribution of a common disease. 头皮花斑癣：一种常见疾病的不寻常分布。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-26 eCollection Date: 2023-09-01 DOI: 10.1002/ped4.12387

Lijuan Wang, Huan Xing

引用次数: 0

Ictal hypersalivation as a prominent symptom in a girl with insulo-opercular epilepsy. 急性多涎是一个突出症状的女孩与胰岛素-眼窝癫痫。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-26 eCollection Date: 2023-12-01 DOI: 10.1002/ped4.12390

Ke Sun, Dongju Yang, Shuli Liang, Liu Yuan, Guojun Zhang

引用次数: 0

Is fat-free mass-based gentamicin dosing regimen preferable than whole-body weight in neonates? 在新生儿中，以去脂体重为基础的庆大霉素给药方案比以全身体重为基础的给药方案更可取吗？

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-08 eCollection Date: 2023-06-01 DOI: 10.1002/ped4.12386

Kannan Sridharan, Muna Al Jufairi, Eman Al Ansari, Lulwa Alsadah, Howra Wasel

{"title":"Is fat-free mass-based gentamicin dosing regimen preferable than whole-body weight in neonates?","authors":"Kannan Sridharan, Muna Al Jufairi, Eman Al Ansari, Lulwa Alsadah, Howra Wasel","doi":"10.1002/ped4.12386","DOIUrl":"10.1002/ped4.12386","url":null,"abstract":"Importance: Body fluid dynamics and renal maturation status vary during the neonatal period. We hypothesized that differences in peak and trough gentamicin concentrations could be expected.Objective: To predict the peak and trough gentamicin concentrations in critically ill neonates and to predict the changes in the predicted peak plasma concentrations of gentamicin following fat-free mass dosing.Methods: Critically ill neonates that received gentamicin and have gentamicin concentration measured were recruited. Fat mass was estimated using skinfold thicknesses. Changes in the peak plasma concentrations (Cmax) using whole-body weight (estimated using the current dosing regimen) and predicted concentrations following the fat-free mass-based dosing were the outcome measures.Results: Eighty-nine critically ill neonates were recruited. Sub-therapeutic Cmax was estimated using the current dosing regimen in 32.6%, and 22.5% neonates following the first and second doses of gentamicin. Preterm neonates had significantly higher fat mass compared to term neonates. All except one had Cmax above 12 μg/ml after the first dose and all had after the second gentamicin dose following the predicted fat-free mass-based gentamicin dosing. The recommended doses are as follows: extreme preterm: 7.95 mg/kg every 48 h; very preterm: 7.30 mg/kg every 36-48 h; late preterm: 5.90 mg/kg every 36-48 h; and term neonates at 5.10 mg/kg every 24 h.Interpretation: Fat-free mass dosing may be considered for obtaining optimal therapeutic effects in the neonatal population.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f6/46/PED4-7-86.PMC10262884.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10029859","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

Clinical characteristics and prognosis of 69 cases of neonatal appendicitis. 69 例新生儿阑尾炎的临床特征和预后。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-07 eCollection Date: 2023-06-01 DOI: 10.1002/ped4.12384

Yong Zhao, Caihan Tang, Jinshi Huang, Junmin Liao, Yichao Gu, Kaiyun Hua, Yanan Zhang, Yongwei Chen, Shuangshuang Li

{"title":"Clinical characteristics and prognosis of 69 cases of neonatal appendicitis.","authors":"Yong Zhao, Caihan Tang, Jinshi Huang, Junmin Liao, Yichao Gu, Kaiyun Hua, Yanan Zhang, Yongwei Chen, Shuangshuang Li","doi":"10.1002/ped4.12384","DOIUrl":"10.1002/ped4.12384","url":null,"abstract":"Importance: Neonatal appendicitis (NA) is a rare and potentially fatal neonatal disease. However, misdiagnosis is common owing to atypical clinical manifestations and non-specific laboratory tests.Objective: The aim of this study was to summarize the clinical characteristics, treatments, and prognoses of infants with NA.Methods: This retrospective analysis included 69 patients diagnosed with NA admitted to Beijing Children's Hospital between 1980 and 2019. The patients were divided into surgical and non-surgical groups based on whether surgery was performed. Their clinical characteristics were analyzed using the chi-square test, t-test, or the Mann-Whitney U test.Results: The study included 47 males and 22 females with NA. The primary symptoms were abdominal distension (n = 36, 52.2%), fever (n = 19, 27.5%), refusal to feed or decreased feeding (n = 16, 23.2%), and vomiting (n = 15, 21.7%). Sixty-five patients underwent abdominal ultrasound examinations; 43 had definite appendiceal abnormalities, 10 had right lower abdominal adhesive masses, and 14 had neonatal enterocolitis manifestations. Twenty-nine and 40 patients were in the surgical and non-surgical groups, respectively. No statistically significant differences were observed between the groups regarding sex, age at onset, birth weight, admission weight, or hospitalization time. However, parenteral nutrition was prolonged in the surgical group (P = 0.001). Additionally, two patients (2.9%) died.Interpretation: NA is a rare neonatal disease with atypical clinical manifestations. Abdominal ultrasonography may aid in the diagnosis. Similarly, appropriate treatment can improve the prognosis.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/46/fd/PED4-7-95.PMC10262871.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10029866","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

A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome. 一名患有高龄-洛肯综合征的婴儿体内的 CEP164 新型致病变体。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-06-06 eCollection Date: 2023-06-01 DOI: 10.1002/ped4.12385

Lili Liu, Yunyu Zhou, Yue Liu, Jiaojiao Ding, Yan Xie, Ningdong Li

引用次数: 0

Infantile hemangiomas screening modalities for primary care physicians. 初级保健医生的婴儿血管瘤筛查模式。

IF 1.9 4区医学

Pediatric Investigation Pub Date : 2023-05-21 eCollection Date: 2023-09-01 DOI: 10.1002/ped4.12383

Stylianos Roupakias, Eirini Kostopoulou, Despoina Gkentzi, Sotirios Fouzas, Xenophon Sinopidis

引用次数: 0