Pediatric Investigation最新文献

{"title":"Recurrent infection triggered encephalopathy syndrome in a pediatric patient with <i>RANBP2</i> mutation and severe acute respiratory syndrome coronavirus 2 infection.","authors":"Jiaqi Li, Feng Huo, Shuo Wang, Yimu Fan, Jie Wu, Zhezhe Zhang, Shuangjun Liu, Quan Wang","doi":"10.1002/ped4.12406","DOIUrl":"10.1002/ped4.12406","url":null,"abstract":"<p><strong>Introduction: </strong>Acute necrotizing encephalopathy (ANE), a fatal subtype of infection-triggered encephalopathy syndrome (ITES), can be triggered by many systemic infections. <i>RANBP2</i> gene mutations were associated with recurrent ANE.</p><p><strong>Case presentation: </strong>Here we report a 1-year-old girl with recurrent ITES and <i>RANBP2</i> mutation. She was diagnosed with influenza-associated encephalopathy and made a full recovery on the first episode. After severe acute respiratory syndrome coronavirus 2 infection, the patient presented with seizures and deteriorating mental status. Brain magnetic resonance imaging revealed necrotic lesions in bilateral thalami and pons. Methylprednisolone, immunoglobulin, and interleukin 6 inhibitors were administered. Her consciousness level was improved at discharge. Nineteen cases of 2019 coronavirus disease-related ANE have been reported, of which 22.2% of patients died and 61.1% had neurologic disabilities. <i>RANBP2</i> gene mutation was found in five patients, two of whom developed recurrent ITES.</p><p><strong>Conclusion: </strong>Patients with <i>RANBP2</i> mutations are at risk for recurrent ITES, may develop ANE, and have a poor prognosis after relapse.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 4","pages":"290-296"},"PeriodicalIF":1.9,"publicationDate":"2023-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138482850","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}

{"title":"A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis","authors":"Bo Yu, Yi Yu, Xinqiong Wang, Chundi Xu, Yuan Xiao","doi":"10.1002/ped4.12404","DOIUrl":"https://doi.org/10.1002/ped4.12404","url":null,"abstract":"ABSTRACT The incidence of pancreatitis in children has increased over the past two decades. With advances in molecular biological techniques and clinical research, genetic variations have emerged as a pivotal etiological factor in pediatric pancreatitis. This review aims to summarize recent clinical research advancements in understanding pediatric pancreatitis caused by various gene mutations. As of the year 2020, researchers had identified 12 genes implicated in the pathogenesis of pancreatitis. These genes primarily contributed to the development of pancreatitis through three mechanisms. Pancreatitis resulting from these gene mutations exhibits several distinct characteristics, including early onset, a heightened risk of developing pancreatic duct stones, rapid disease progression, and a significantly increased risk of pancreatic endocrine and exocrine dysfunction, as well as pancreatic cancer in the future. Genetic sequencing is recommended for children with pancreatitis based on six indications. The sequencing not only assists in the clinical diagnosis but also enhances our understanding of the pathophysiology of pancreatitis.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"110 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135511017","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}

{"title":"Nurses' perceptions about neonatal intensive care units providing family‐centered care are associated with skin‐to‐skin contact implementation","authors":"Marilyn Aita, Gwenaëlle De Clifford‐Faugère, Geneviève Laporte, Sébastien Colson, Nancy Feeley","doi":"10.1002/ped4.12402","DOIUrl":"https://doi.org/10.1002/ped4.12402","url":null,"abstract":"Skin-to-skin contact (SSC) consists of positioning the diaper-clad infant against the parent's chest and is considered a nursing practice rooted in family-centered care (FCC).1 SSC implies simultaneous parental presence and helps to facilitate their involvement from the earliest hours of their preterm infants’ lives as this intervention is delivered by parents.1 FCC has gained worldwide popularity in recent years to promote parental presence and active participation of parents in care during neonatal intensive care units (NICUs) hospitalization.2 Both practices relate to developmental care (DC), which regroups specific interventions aimed at reducing stress and improving infant neurological development.3 It is well recognized that promoting SSC and FCC are recommended in the NICU, given its many health benefits for preterm infants and parents. SSC has been found to favor maternal attachment, enhance paternal role achievement and interactive behavior, reduce maternal and paternal anxiety, and promote infants’ long-term cognitive development.4, 5 On the other hand, FCC can improve the clinical outcomes of preterm infants such as greater weight gain, as well as the psychological well-being of the parents.6 More specifically, parental involvement in NICU care is associated with reduced infants’ length of hospital stay and collaboration with professionals increased parental satisfaction.7 Daily maternal presence during NICU hospitalization is associated with a decrease in emotional and behavioral problems in school-age children.8 Noteworthy, parental presence during NICU hospitalization with more frequent holding of their infant in their arms, is associated with better infants’ neurobehavioral development, such as better quality of movements and reduced arousal, at term equivalent age.9 Given their benefits and driven by the DC philosophy, nurses should encourage SSC as well as FCC to provide parents with opportunities for collaboration and care involvement in the NICU. Yet, significant barriers may impede nurses from implementing SSC and FCC in the NICU, namely the lack of adequate training for nurses about SSC.10 As optimal implementation of FCC and SSC may depend on the nurses’ perceptions of these DC practices, along with the training and education about these practices provided in the NICU, the aim of this manuscript is to explore the association between NICU nurses’ perceptions about SSC and FCC and their unit's ability to provide FCC and SSC. Secondary analysis was performed from a larger comparative international study that was conducted between October 2017 and July 2018, where 202 NICU nurses completed paper or online questionnaires on their perceptions about their unit provision of FCC and SSC.11 Prior to the beginning of the study, ethical approval was obtained in both Canada (MP-21-2018-1854) and France (20181306005 and CNIL 2211490 v0). Nurses were recruited from four level III university-affiliated NICUs (intensive and intermediate care","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135618080","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}

{"title":"Dwell time and bloodstream infection incidence of umbilical venous catheterization in China","authors":"Xu Zheng, Dan He, Zixin Yang, Lu Chen, Min Jiang, Yujie Qi, Fei Qin, Jie Yu, Yaguang Peng, Ling Liu, Mingyan Hei","doi":"10.1002/ped4.12403","DOIUrl":"https://doi.org/10.1002/ped4.12403","url":null,"abstract":"ABSTRACT Importance Central line‐associated bloodstream infection (CLABSI) is one of the most serious complications of central venous access devices. Reducing the risk of CLABSI is of utmost significance in efforts to improve neonatal mortality rates and enhance long‐term prognosis. Objective To determine the dwell time and incidence of CLABSI of umbilical venous catheterization (UVC) for preterm infants in China. Methods Preterm infants with UVC admitted to 44 tertiary neonatal intensive care units in 24 provinces in China were enrolled. Study period was from November 2019 to August 2021. The end point of observations was 48 h after umbilical venous (UV) catheter removal. The primary outcomes were dwell time of UV catheter and UVC‐associated CLABSI. Data between infants with UV catheter dwell time ≤7 days and >7 days, and with birth weight (BW) ≤1000 g and >1000 g were compared. Results In total, 2172 neonates were enrolled (gestational age 30.0 ± 2.4 weeks, BW 1258.5 ± 392.8 g). The median UV catheter dwell time was 7 (6–10) days. The incidence of UVC‐associated CLABSI was 3.03/1000 UV catheter days. For infants with UV catheter dwell time ≤7 days and >7 days, the UVC‐associated CLABSI incidence was 3.71 and 2.65 per 1000 UV catheter days, respectively, P = 0.23. For infants with UVC dwell times of 3–6, 7–12, and 13–15 days, the UVC‐associated CLABSI rates were 0.14%, 0.68%, and 2.48% ( P < 0.01). The Kaplan–Meier plot of UV catheter dwell time to CLABSI showed no difference between infants with BW ≤1000 g and >1000 g ( P = 0.60). Interpretation The median dwell time of UV catheter was 7 days, and the incidence of UVC‐associated CLABSI was 3.03/1000 catheter days in China. The daily risk of UVC‐associated CLABSI and other complications increased with the dwell time.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136185286","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}

{"title":"Safety of removal of ProSeal laryngeal mask airway in children in the supine versus lateral position in a deep plane of anesthesia: A randomized controlled trial","authors":"Shweta Dhiman, Anju R. Bhalotra, Kavita R. Sharma","doi":"10.1002/ped4.12401","DOIUrl":"https://doi.org/10.1002/ped4.12401","url":null,"abstract":"ABSTRACT Importance When a ProSeal laryngeal mask airway (PLMA) is removed with the child in a deep plane of anesthesia, the upper airway muscle tone and protective upper airway reflexes may be obtunded. Objective To determine whether the supine or lateral position is safer for the removal of a PLMA in deeply anesthetized children by comparing the incidence of upper airway complications. Methods This randomized single‐blind comparative trial was conducted at a tertiary care hospital between January 2020 and September 2020. Forty children of the American Society of Anesthesiologists class I/II of ages 1–12 years age undergoing surgery under general anesthesia with PLMA used as the definitive airway device were recruited. Patients were randomly allocated to lateral group or supine group for PLMA removal in a deep plane of anesthesia in the lateral or supine position. The primary outcome was the number of patients experiencing one or more upper airway complications and the secondary outcomes were incidence of individual respiratory adverse effects and of severe airway complications. Results The incidence of airway complications was 30% in the supine group and 20% in the lateral group ( P = 0.6641). Incidence of laryngospasm, immediate stridor, and excessive secretions were similar. Early stridor and oxygen desaturation were higher in the supine group ( P = 0.0374, P = 0.0183 respectively). Interpretation The overall incidence of upper airway complications was similar with the removal of a PLMA in the supine or lateral position in deeply anesthetized children. The incidence of oxygen desaturation and stridor were higher with PLMA removal in the supine as compared to the lateral position.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134957900","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}

{"title":"Biologics and oral small-molecule inhibitors for treatment of pediatric atopic dermatitis: Opportunities and challenges.","authors":"Anqi Zhao, Chaolan Pan, Ming Li","doi":"10.1002/ped4.12400","DOIUrl":"10.1002/ped4.12400","url":null,"abstract":"<p><p>Atopic dermatitis (AD) is a complex disease characterized by recurrent eczematous lesions and refractory pruritus that drastically impairs quality of life. Due to the chronic and relapsing course, patients are easily trapped in the debilitating condition. Classical therapies show limitations, especially for patients with moderate-to-severe phenotypes. Advanced new insights in targeted therapies exhibit great application prospects which were reinforced by the more profound understanding of the disease pathogenesis. However, the sustained efficiency, biosafety, and long-term benefits still remain in further exploration. This review summarizes recent clinical studies on oral small-molecule inhibitors and biological agents for pediatric AD patients, which provides the latest frontiers to clinicians.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 3","pages":"177-190"},"PeriodicalIF":1.9,"publicationDate":"2023-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/51/PED4-7-177.PMC10509388.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41144126","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}

{"title":"A case of familial incontinentia pigmenti in infancy without hyperpigmented stage.","authors":"Yumeng Wang, Xinyi Wang, Ting Chen, Chaolan Pan, Ming Li","doi":"10.1002/ped4.12399","DOIUrl":"10.1002/ped4.12399","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 3","pages":"220-221"},"PeriodicalIF":1.9,"publicationDate":"2023-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/50/d2/PED4-7-220.PMC10509384.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41105889","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}

{"title":"The update of treatment strategies in pediatrics with generalized pustular psoriasis in China.","authors":"Yunliu Chen, Xin Xiang, Zhaoyang Wang, Chaoyang Miao, Zigang Xu","doi":"10.1002/ped4.12395","DOIUrl":"10.1002/ped4.12395","url":null,"abstract":"<p><p>Generalized pustular psoriasis (GPP) is a severe subtype of psoriasis, commonly combined with systemic inflammation. Gene mutations have been found to be associated with GPP and vary by ethnicity. Systemic treatments are usually required for the severity and potential complications of GPP. However, there is no common consensus in China, especially among pediatric patients, whose data are scarce. Acitretin, methotrexate, and cyclosporine are widely used in pediatrics with GPP, while the adverse effects should be highlighted. The emergence of different biological agents brings us into a new era. This article discusses the genetic background of Chinese patients and demonstrates the evidence of treatment in pediatrics with GPP.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 3","pages":"191-198"},"PeriodicalIF":1.9,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/44/PED4-7-191.PMC10509407.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41146726","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}

{"title":"Rapid response with good toleration of sirolimus for life-threatening neonatal lymphatic malformations.","authors":"Shixiao Dong, Li Li, Jiaosheng Xu, Zhonglong Han, Xia Zheng","doi":"10.1002/ped4.12397","DOIUrl":"10.1002/ped4.12397","url":null,"abstract":"<p><strong>Introduction: </strong>Lymphatic malformations (LMs) are rare vascular anomalies predominantly affecting infants, which can be debilitating or life-threatening when complicated with intralesional bleeding or infection. Effective and safe management strategies are essential in such cases.</p><p><strong>Case presentation: </strong>We report a case series involving four Chinese neonates with life-threatening LMs, initially treated with oral sirolimus. All patients achieved rapid relief and sustained remission, using a lower sirolimus dosage than previously recommended. Furthermore, adverse events were rarely recorded during follow-up.</p><p><strong>Conclusion: </strong>Sirolimus can be considered a promising choice for neonates with intricate and life-threatening LMs. Initiation with a reduced sirolimus dose is advisable.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 3","pages":"206-211"},"PeriodicalIF":1.9,"publicationDate":"2023-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/65/f0/PED4-7-206.PMC10509387.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137562","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}

{"title":"Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma.","authors":"Jiaosheng Xu, Hongyan Ma, Xingfeng Yao, Xiaofeng Han, Yang Wen, Siwei Wang, Zigang Xu, Lin Ma","doi":"10.1002/ped4.12398","DOIUrl":"10.1002/ped4.12398","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 3","pages":"212-215"},"PeriodicalIF":1.9,"publicationDate":"2023-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/99/dc/PED4-7-212.PMC10509386.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41133688","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}