Pediatric Investigation最新文献

{"title":"Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.","authors":"Yingchao Liu, Suyun Qian","doi":"10.1002/ped4.12419","DOIUrl":"10.1002/ped4.12419","url":null,"abstract":"<p><p>The onset of critical rare diseases (RDs) in children is rapid and dangerous, accompanied by a high mortality rate, which brings a heavy burden to both families and society. Multiple malformations, neuromuscular diseases, metabolic diseases, and heart diseases are the most common types of RDs in children of China, often manifesting with multiple organ dysfunction. At present, the diagnosis and treatment of critical RDs in children face challenges such as prolonged diagnosis time, a high misdiagnosis rate, limited treatment modalities, and a significant disease burden. However, with the progress in genetic testing technology, the establishment of multidisciplinary diagnosis and treatment platforms, and the implementation of relevant RD policies in China, children with critical RDs will received enhanced medical services, experience improved prognoses, and reintegrate into social life.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"8 1","pages":"66-71"},"PeriodicalIF":1.9,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10951483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140185166","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":"Spotlight on eltrombopag concentration in pediatric immune thrombocytopenia: A single-center observational study in China.","authors":"Shuyue Dong, Zhifa Wang, Nan Wang, Jingyao Ma, Jinxi Meng, Yixin Sun, Xiaoling Cheng, Runhui Wu","doi":"10.1002/ped4.12411","DOIUrl":"10.1002/ped4.12411","url":null,"abstract":"<p><strong>Importance: </strong>Eltrombopag has been recommended for pediatric immune thrombocytopenia (ITP). Response and adverse drug reactions (ADRs) varied widely between individuals, even at the same dose of eltrombopag. The appropriate eltrombopag concentration in ITP has not been reported.</p><p><strong>Objective: </strong>This study aims to explore the appropriate eltrombopag concentration in pediatric ITP.</p><p><strong>Methods: </strong>This was a single-center, prospective cohort study. Children diagnosed with refractory persistent/chronic ITP and platelet count < 30×10⁹/L were treated with eltrombopag and followed up for at least 2 months. Concentration was detected by high-performance liquid chromatography-mass spectrometry at least 2 weeks after eltrombopag. The clinical characteristics-concentration, concentration-response, and concentration-ADRs were analyzed.</p><p><strong>Results: </strong>A total of 30 patients were enrolled, comprising 13 males and 17 females, with a median age of 72 (45‒94) months. The median dose and concentration were 1.39 (1.09‒1.56) mg/kg and 2.70 (2.25‒4.13) mg/L, respectively. Of the enrolled patients, 14 responded to treatment, whereas 16 did not. Additionally, five experienced adverse drug reactions. No linear correlation was observed between eltrombopag concentration and clinical characteristics. The concentration was lower in the response group than in the nonresponse group, but there was no significant difference (<i>t</i> = 0.755, <i>P</i> = 0.457). Patients who experienced ADRs had a higher concentration than those without ADRs (<i>t</i> = 2.538, <i>P</i> = 0.017). The area under the receiver operating characteristic curve of ADRs was 0.78 (95% confidence interval: 0.56‒1.00). Youden's index identified the cutoff point as 4.33 mg/L, with a sensitivity of 88% and a specificity of 60%. Logistic regression analysis demonstrated that a higher platelet count before eltrombopag predicted a favorable response.</p><p><strong>Interpretation: </strong>Eltrombopag proves efficacious and well-tolerated for treating pediatric ITP. However, prolonged and high-dose administration may increase the likelihood of ADRs. Thus, examining the appropriate eltrombopag concentration assists in directing individualized management of pediatric ITP.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"8 1","pages":"44-52"},"PeriodicalIF":1.9,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10951492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140185168","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":"Coverage and determinants of infant postnatal care in Nigeria: A population-based cross-sectional study.","authors":"Bolaji Emmanuel Egbewale, Olusola Oyedeji, Jesse Bump, Christopher Robert Sudfeld","doi":"10.1002/ped4.12412","DOIUrl":"10.1002/ped4.12412","url":null,"abstract":"<p><strong>Importance: </strong>In 2019, Nigeria had the largest number of under-5 child deaths globally and many of these deaths occurred within the first week of life. The World Health Organization recommends infant postnatal care (PNC) attendance to support newborn survival; however, utilization of PNC is known to be low in many contexts.</p><p><strong>Objective: </strong>This study examined coverage and individual-level determinants of infant PNC attendance in Nigeria.</p><p><strong>Methods: </strong>Nigeria Demographic Health Survey (NDHS) 2018 data were used to evaluate infant PNC coverage and determinants. Infant PNC was defined as receipt of care within 2 days of birth. Children delivered up to 2 years before the 2018 NDHS were included. We examined predictors of infant PNC with modified Poisson regression models to estimate relative risks (RRs).</p><p><strong>Results: </strong>The national coverage of infant PNC was 37.3% (95% confidence interval [CI]: 35.8%-38.7%). Significant heterogeneity in PNC attendance existed at state and regional levels. Facility delivery was strongly associated with the uptake of PNC (RR: 6.07; 95% CI: 5.60-6.58). Greater maternal education, maternal employment, urban residence, female head of household, and greater wealth were also associated with an increased likelihood of PNC visits.</p><p><strong>Interpretation: </strong>The uptake of infant PNC is low and interventions are urgently needed to promote equity in access and increase demand for PNC in Nigeria.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"8 1","pages":"27-36"},"PeriodicalIF":1.9,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10951556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140185165","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":"Diagnose and treatment for Type D congenital esophageal atresia with tracheoesophageal fistula","authors":"Dingding Wang, Yong Zhao, Yanan Zhang, K. Hua, Yichao Gu, Shuangshuang Li, Junmin Liao, Shen Yang, Ting Yang, Jiawei Zhao, Jinshi Huang","doi":"10.1002/ped4.12410","DOIUrl":"https://doi.org/10.1002/ped4.12410","url":null,"abstract":"Type D esophageal atresia (EA) with tracheoesophageal fistula (TEF) is characterized by EA with both proximal and distal TEFs. It is a rare congenital anomaly with a very low incidence.To investigate diagnostic and treatment strategies for this rare condition.We retrospectively reviewed the clinicopathological features of patients with EA/TEF treated at our institution between January 2007 and September 2021.Among 386 patients with EA/TEF, 14 (3.6%) had type D EA/TEF. Only two patients were diagnosed with proximal TEF preoperatively. Seven patients were diagnosed intraoperatively. Five patients were missed for diagnosis during the initial surgery but was later confirmed by bronchoscopy. During the neonatal period, seven patients underwent a one‐stage repair of proximal and distal TEF via thoracoscopy or thoracotomy. Due to missed diagnosis and other reasons, the other 7 patients underwent two‐stage surgery for repair of the proximal TEF, including cervical incision and thoracoscopy. Ten of the 14 patients experienced postoperative complications including anastomotic leakage, pneumothorax, esophageal stricture, and recurrence. Patients who underwent one‐stage repair of distal and proximal TEF during the neonatal period showed a higher incidence of anastomotic leak (4/7). In contrast, only one of seven patients with two‐stage repair of the proximal TEF developed an anastomotic leak.Type D EA/TEF is a rare condition, and proximal TEFs are easily missed. Bronchoscopy may aim to diagnose and determine the correct surgical approach. A cervical approach may be more suitable for repairing the proximal TEF.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"23 11","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139448761","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":"Recent landscape and trends for industry‐sponsored pediatric clinical trials in China from 2013 to 2022","authors":"Chang Liu, Yi Liu, Ling Ou, Yuenan Qi, Jianmin Zhang","doi":"10.1002/ped4.12409","DOIUrl":"https://doi.org/10.1002/ped4.12409","url":null,"abstract":"Pediatric medication is a challenging issue globally. Promoting trials of medications for children and implementing measures to encourage innovation for addressing unmet medical and health needs are important.To explore the recent landscape of pediatric clinical trials of new investigational drugs conducted by pharmaceutical enterprises in China from 2013 to 2022 to provide insight into pediatric drug development in the pharmaceutical industry and regulatory policy formulation.We performed a cross‐sectional observational investigation of pediatric clinical trials registered from January 1, 2013, to December 31, 2022, on the Registration and Information Disclosure Platform for Drug Clinical Trials, the official registration platform established in 2013 for trials of new investigational drugs initiated by biopharmaceutical enterprises. Trials that included pediatric participants (under 18 years old) were retrieved, and their relevant characteristics were extracted and analyzed.In total, 895 pediatric clinical trials were collected, accounting for 5.1% of the total registered clinical trials initiated prior to January 1, 2023. The overall average annual growth rate for the number of pediatric clinical trials was 12% (P < 0.001). Phase III trials accounted for the highest proportion (49.1%, 439). Of the 895 trials included, 736 (82.2%) were domestic trials, and 159 (17.8%) were international multicenter trials. In terms of tested drugs, investigations of biological products accounted for the largest proportion of trials (67.4%, 603). Among pediatric clinical trials, studies of vaccines accounted for the largest proportion of trials (41.0%, 367), followed by trials for rare diseases (17.2%, 154). Furthermore, geographical distribution analysis revealed that the largest and smallest numbers of trials were conducted in North China (35.7%, 320) and Northeast China (0.8%, 7), respectively.The growth trends for industry‐sponsored clinical trials involving children illustrate the progress and increasing capability of pediatric drug development achieved in China since 2013. Current challenges and potential areas of focus for policymakers and stakeholders include investigating orphan drugs for rare diseases according to the unique epidemiological characteristics of Chinese children, expanding the scope of pediatric clinical trials, and improving the uneven geographical distribution of leading research centers.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"4 16","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139389596","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":"The clinical characteristics and risk factors for necrotizing soft tissue infection in children","authors":"Jing Liu, Jigang Chen, Yanni Wang, H. Qi, Jing Yu","doi":"10.1002/ped4.12408","DOIUrl":"https://doi.org/10.1002/ped4.12408","url":null,"abstract":"Necrotizing soft tissue infection (NSTI) is a serious infectious disease. However, the early clinical manifestations and indicators of NSTI in children are still unclear.The purpose of this study was to analyze the clinical characteristics and risk factors of NSTI in pediatric patients.A total of 127 children with skin and soft tissue infection (SSTI) were treated at our hospital and divided into two groups: the NSTI group and the non‐NSTI group, based on their discharge diagnosis from January 2011 to December 2022. Then, we collected and analyzed the clinical characteristics and risk factors of all patients, including sex and age, disease inducement, admission temperature, local skin manifestations, infection site, the presence of sepsis, bacterial culture, and laboratory indicators.In our study, there was a statistical difference in the age distribution and disease inducement between NSTI and non‐NSTI groups. The occurrence of local skin manifestations (blisters/bullae and ecchymosis) and the presence of sepsis significantly increased in the NSTI group compared to the non‐NSTI group. Additionally, only the platelet count on laboratory tests was statistically different between the NSTI and non‐NSTI groups. Finally, the logistic regression analysis suggested that local skin manifestations such as blisters/bullae, and ecchymosis, as well as the presence of sepsis, were identified as risk factors for NSTI.Children with SSTI and skin manifestations such as blisters/bullae, ecchymosis, and the presence of sepsis are at a higher risk of developing NSTI. These symptoms serve as useful indicators for early detection of NSTI.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"2 20","pages":""},"PeriodicalIF":2.2,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138603898","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":"Will artificial intelligence widen the therapeutic gap between children and adults?","authors":"Matthew R. Nagy, Bryan Sisk, Albert Lai, Eric Kodish","doi":"10.1002/ped4.12407","DOIUrl":"https://doi.org/10.1002/ped4.12407","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":" 5","pages":""},"PeriodicalIF":2.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138617240","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":"Multilevel omics for the discovery of biomarkers in pediatric sepsis.","authors":"Xinyu Wang, Rubo Li, Suyun Qian, Dan Yu","doi":"10.1002/ped4.12405","DOIUrl":"10.1002/ped4.12405","url":null,"abstract":"<p><p>Severe sepsis causes organ dysfunction and continues to be the leading reason for pediatric death worldwide. Early recognition of sepsis could substantially promote precision treatment and reduce the risk of pediatric death. The host cellular response to infection during sepsis between adults and pediatrics could be significantly different. A growing body of studies focused on finding markers in pediatric sepsis in recent years using multi-omics approaches. This narrative review summarized the progress in studying pediatric sepsis biomarkers from genome, transcript, protein, and metabolite levels according to the omics technique that has been applied for biomarker screening. It is most likely not a single biomarker could work for precision diagnosis of sepsis, but a panel of markers and probably a combination of markers detected at multi-levels. Importantly, we emphasize the importance of group distinction of infectious agents in sepsis patients for biomarker identification, because the host response to infection of bacteria, virus, or fungus could be substantially different and thus the results of biomarker screening. Further studies on the investigation of sepsis biomarkers that were caused by a specific group of infectious agents should be encouraged in the future, which will better improve the clinical execution of personalized medicine for pediatric sepsis.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 4","pages":"277-289"},"PeriodicalIF":1.9,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138482849","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":"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}