This research meticulously explores the diverse factors influencing the occurrence of Hirschsprung‐associated enterocolitis (HAEC) subsequent to surgical interventions for congenital megacolon. Considering that Hirschsprung's Disease (HSCR) management predominantly necessitates excision of the aganglionic intestinal segment, the study specifically delineates the correlation between the extent of the excised intestinal segment and the HAEC risk post‐surgery. An analysis of clinical data from 505 patients spanning 2012–2022 enabled a comparison of clinical attributes between patients with and without postoperative HAEC, the application of statistical analyses to identify factors significantly correlating with HAEC, and the determination of independent risk factors via a Logistic regression model. Findings indicate a significant association between preoperative conditions, HSCR variants, and the excised intestinal segment's length with HAEC risk, identifying resection length and albumin levels as independent risk factors. Notably, an increase in resection length by 1 cm correlates with a 9.8% rise in postoperative HAEC risk, whereas a 1 g/L elevation in albumin levels corresponds to a 5.6% risk reduction. Subgroup analyses reaffirm that, across all HSCR variants, an extended resection length significantly elevates HAEC risk. This study underscores the critical roles of albumin levels and the length of the resected intestinal segment as independent risk factors for HAEC post‐congenital megacolon surgery, providing essential insights for clinical strategies aimed at mitigating HAEC risk and enhancing patient care outcomes.
这项研究细致地探讨了影响先天性巨结肠手术治疗后发生赫氏相关性小肠结肠炎（HAEC）的各种因素。考虑到赫氏巨结肠症（HSCR）的治疗主要需要切除激动的肠段，本研究特别探讨了切除肠段的范围与术后 HAEC 风险之间的相关性。该研究分析了 505 名患者在 2012-2022 年间的临床数据，比较了术后出现和未出现 HAEC 的患者的临床特征，应用统计分析确定了与 HAEC 显著相关的因素，并通过 Logistic 回归模型确定了独立的风险因素。研究结果表明，术前情况、HSCR 变体和切除肠段的长度与 HAEC 风险之间存在明显关联，切除长度和白蛋白水平被确定为独立风险因素。值得注意的是，切除长度每增加 1 厘米，术后 HAEC 风险就会增加 9.8%，而白蛋白水平每升高 1 克/升，风险就会降低 5.6%。亚组分析再次证实，在所有 HSCR 变异中，延长切除长度会显著增加 HAEC 风险。这项研究强调了白蛋白水平和切除肠段长度作为先天性巨结肠术后 HAEC 独立风险因素的关键作用，为旨在降低 HAEC 风险和提高患者护理效果的临床策略提供了重要的启示。
{"title":"Surgical and clinical determinants of postoperative Hirschsprung‐associated enterocolitis: Multivariate analysis in a large cohort","authors":"Guoyong Wang, Kai Gao, Rensen Zhang, Qianyang Liu, Cailong Kang, Chunbao Guo","doi":"10.1002/pdi3.45","DOIUrl":"https://doi.org/10.1002/pdi3.45","url":null,"abstract":"This research meticulously explores the diverse factors influencing the occurrence of Hirschsprung‐associated enterocolitis (HAEC) subsequent to surgical interventions for congenital megacolon. Considering that Hirschsprung's Disease (HSCR) management predominantly necessitates excision of the aganglionic intestinal segment, the study specifically delineates the correlation between the extent of the excised intestinal segment and the HAEC risk post‐surgery. An analysis of clinical data from 505 patients spanning 2012–2022 enabled a comparison of clinical attributes between patients with and without postoperative HAEC, the application of statistical analyses to identify factors significantly correlating with HAEC, and the determination of independent risk factors via a Logistic regression model. Findings indicate a significant association between preoperative conditions, HSCR variants, and the excised intestinal segment's length with HAEC risk, identifying resection length and albumin levels as independent risk factors. Notably, an increase in resection length by 1 cm correlates with a 9.8% rise in postoperative HAEC risk, whereas a 1 g/L elevation in albumin levels corresponds to a 5.6% risk reduction. Subgroup analyses reaffirm that, across all HSCR variants, an extended resection length significantly elevates HAEC risk. This study underscores the critical roles of albumin levels and the length of the resected intestinal segment as independent risk factors for HAEC post‐congenital megacolon surgery, providing essential insights for clinical strategies aimed at mitigating HAEC risk and enhancing patient care outcomes.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"61 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141111463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Benign convulsions with mild gastroenteritis (CwG) characterized by afebrile seizures that occurred in the acute period of mild gastroenteritis often occur in infancy and toddlers. Until now, it has not been well acknowledged and thereby classified by the International League against Epilepsy (ILAE) as epilepsy syndrome or acute symptomatic seizures (ASS). Thus far, accumulating data suggest that CwG could fit all the mandatory criteria of ASS from the aspects of pathogenesis, clinical manifestations, and outcomes, rather than epilepsy in spite of the rare cases developing epilepsy over time. This review provides a comprehensive picture of this entity aiming to facilitate the pediatricians, particularly for general practitioners, to better recognize this unique entity and, ultimately, to minimize unnecessary evaluation and treatment.
轻度肠胃炎良性惊厥（CwG）的特点是在轻度肠胃炎急性期出现无热惊厥，常发生于婴幼儿。迄今为止，国际抗癫痫联盟（ILAE）尚未明确将其归类为癫痫综合征或急性症状性发作（ASS）。迄今为止，不断积累的数据表明，CwG 从发病机制、临床表现和结果等方面都符合 ASS 的所有强制性标准，而不是癫痫，尽管有极少数病例随着时间的推移发展为癫痫。本综述全面介绍了这一实体，旨在帮助儿科医生，尤其是全科医生更好地认识这一独特的实体，并最终减少不必要的评估和治疗。
{"title":"Benign convulsions with mild gastroenteritis in children: An emerging acute symptomatic seizures","authors":"Duan Wang, Lijuan Peng, Tingsong Li, Nong Xiao","doi":"10.1002/pdi3.59","DOIUrl":"https://doi.org/10.1002/pdi3.59","url":null,"abstract":"Benign convulsions with mild gastroenteritis (CwG) characterized by afebrile seizures that occurred in the acute period of mild gastroenteritis often occur in infancy and toddlers. Until now, it has not been well acknowledged and thereby classified by the International League against Epilepsy (ILAE) as epilepsy syndrome or acute symptomatic seizures (ASS). Thus far, accumulating data suggest that CwG could fit all the mandatory criteria of ASS from the aspects of pathogenesis, clinical manifestations, and outcomes, rather than epilepsy in spite of the rare cases developing epilepsy over time. This review provides a comprehensive picture of this entity aiming to facilitate the pediatricians, particularly for general practitioners, to better recognize this unique entity and, ultimately, to minimize unnecessary evaluation and treatment.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"75 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141123168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Li Yang, Fei Yang, Yaqiong Tian, Ling Liu, Shangyingying Li, Tauseef Ahmad, Yuan Shi, Shengfen Tu
Ropivacaine is a commonly used local anesthetic for brachial plexus blocks in children, but the minimum effective dose of ropivacaine for interscalene brachial plexus blocks has not been reported. The aim of this study was to determine the 90% minimum effective concentration (MEC90) of ropivacaine for an ultrasound‐guided interscalene brachial plexus block (ISB). A total of 155 patients, aged from 1 to 10 years, underwent unilateral surgical procedures on areas of the upper extremity not innervated by the ulnar nerve. The biased coin design up‐and‐down sequential method (BCD‐UMD) was used to determine the MEC90 of ropivacaine for ultrasound‐guided ISB. In our study, the initial concentration of ropivacaine was 0.07% in the toddler group and 0.09% in the preschool and school‐age groups. During the trial, the concentration of ropivacaine for each subsequent patient was determined by the blocking effect of the previous patient. In case of failure, the concentration for the next patient was increased by 0.01%. Otherwise, the concentration was either decreased by 0.01%, with a probability of 0.11, or kept the same, with a probability of 0.89. Overall, the MEC90 of ropivacaine was 0.104% (95% confidence interval (CI), 0.070%–0.106%) in the toddler group, 0.114% (95% CI, 0.090%–0.117%) in the preschool group, and 0.133% (95% CI, 0.099%–0.136%) in the school‐age group. No adverse events occurred. Our study showed that lower concentrations of ropivacaine could provide effective nerve blocks and reduce the risk of local anesthetics.
{"title":"The 90% minimum effective concentration of ropivacaine for ultrasound‐guided interscalene brachial plexus block in children aged 1–10 years: A biased coin design up‐and‐down sequential allocation trial","authors":"Li Yang, Fei Yang, Yaqiong Tian, Ling Liu, Shangyingying Li, Tauseef Ahmad, Yuan Shi, Shengfen Tu","doi":"10.1002/pdi3.82","DOIUrl":"https://doi.org/10.1002/pdi3.82","url":null,"abstract":"Ropivacaine is a commonly used local anesthetic for brachial plexus blocks in children, but the minimum effective dose of ropivacaine for interscalene brachial plexus blocks has not been reported. The aim of this study was to determine the 90% minimum effective concentration (MEC90) of ropivacaine for an ultrasound‐guided interscalene brachial plexus block (ISB). A total of 155 patients, aged from 1 to 10 years, underwent unilateral surgical procedures on areas of the upper extremity not innervated by the ulnar nerve. The biased coin design up‐and‐down sequential method (BCD‐UMD) was used to determine the MEC90 of ropivacaine for ultrasound‐guided ISB. In our study, the initial concentration of ropivacaine was 0.07% in the toddler group and 0.09% in the preschool and school‐age groups. During the trial, the concentration of ropivacaine for each subsequent patient was determined by the blocking effect of the previous patient. In case of failure, the concentration for the next patient was increased by 0.01%. Otherwise, the concentration was either decreased by 0.01%, with a probability of 0.11, or kept the same, with a probability of 0.89. Overall, the MEC90 of ropivacaine was 0.104% (95% confidence interval (CI), 0.070%–0.106%) in the toddler group, 0.114% (95% CI, 0.090%–0.117%) in the preschool group, and 0.133% (95% CI, 0.099%–0.136%) in the school‐age group. No adverse events occurred. Our study showed that lower concentrations of ropivacaine could provide effective nerve blocks and reduce the risk of local anesthetics.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"63 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141123284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A novel mutation site in STAT in a chronic mucocutaneous candidiasis pediatric patient with disseminated cryptococcosis: Case report and review of the literature","authors":"Chuan Gan, Yu Nie, Gaihuan Zheng","doi":"10.1002/pdi3.58","DOIUrl":"https://doi.org/10.1002/pdi3.58","url":null,"abstract":"","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"34 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140979915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neonatal hypoxia–ischemia (HI) is one of the main factors that cause neonatal severe neurologic impairment and death. Shown by a large number of studies, caspase‐1 plays a significant effect in diseases such as hypoxic–ischemic brain damage (HIBD) and may be a key component of the protein complex that initiates PANoptosis. VX‐765, an inhibitor of caspase‐1, exerts a potential neuroprotective effect in traumatic brain injury. However, it is unknown whether the administration of VX‐765 has neuroprotective effects on neonatal rats that suffered HIBD, and if so, the underlying mechanisms are also still unknown. In the present study, we found that treatment with VX‐765 (50 mg/kg, i.p.) significantly ameliorated the impairment of locomotor coordination functions and myodynamia as well as the spatial learning and memory in neonatal rats subjected with HIBD. These behavior improvements were attributed to VX‐765 reducing infarct volumes and neuronal loss in the CA1, CA3 region of hippocampus, and deeper layers of the cortex in HIBD rats. Moreover, the enzyme‐linked immunosorbent assay showed that VX‐765 obviously decreased the production of neuroinflammatory factors including TNF‐α, IL‐1β, and IL‐6. Importantly, we identified HI promoted PANoptosis activation in vivo and in vitro, and VX‐765 obviously suppressed PANoptosis activation. Finally, we demonstrated that VX‐765 treatment reversed neuronal injury induced by oxygen–glucose deprivation (OGD). Taken together, these results suggest that VX‐765 protects the neurons against damage by suppressing neuroinflammation and PANoptosis activation, thereby improving locomotor coordination and cognitive impairments in neonatal HIBD rats, indicating that VX‐765 may be an underlying therapeutic drug for the clinical treatment of hypoxic–ischemic encephalopathy (HIE).
{"title":"VX‐765 alleviates motor and cognitive impairments via inhibiting PANoptosis activation in the neonatal rats after hypoxic–ischemic brain damage","authors":"Xiaohuan Li, Mulan Chen, Boqing Xu, Yepeng Fan, Chunfang Dai, Zhifang Dong","doi":"10.1002/pdi3.66","DOIUrl":"https://doi.org/10.1002/pdi3.66","url":null,"abstract":"Neonatal hypoxia–ischemia (HI) is one of the main factors that cause neonatal severe neurologic impairment and death. Shown by a large number of studies, caspase‐1 plays a significant effect in diseases such as hypoxic–ischemic brain damage (HIBD) and may be a key component of the protein complex that initiates PANoptosis. VX‐765, an inhibitor of caspase‐1, exerts a potential neuroprotective effect in traumatic brain injury. However, it is unknown whether the administration of VX‐765 has neuroprotective effects on neonatal rats that suffered HIBD, and if so, the underlying mechanisms are also still unknown. In the present study, we found that treatment with VX‐765 (50 mg/kg, i.p.) significantly ameliorated the impairment of locomotor coordination functions and myodynamia as well as the spatial learning and memory in neonatal rats subjected with HIBD. These behavior improvements were attributed to VX‐765 reducing infarct volumes and neuronal loss in the CA1, CA3 region of hippocampus, and deeper layers of the cortex in HIBD rats. Moreover, the enzyme‐linked immunosorbent assay showed that VX‐765 obviously decreased the production of neuroinflammatory factors including TNF‐α, IL‐1β, and IL‐6. Importantly, we identified HI promoted PANoptosis activation in vivo and in vitro, and VX‐765 obviously suppressed PANoptosis activation. Finally, we demonstrated that VX‐765 treatment reversed neuronal injury induced by oxygen–glucose deprivation (OGD). Taken together, these results suggest that VX‐765 protects the neurons against damage by suppressing neuroinflammation and PANoptosis activation, thereby improving locomotor coordination and cognitive impairments in neonatal HIBD rats, indicating that VX‐765 may be an underlying therapeutic drug for the clinical treatment of hypoxic–ischemic encephalopathy (HIE).","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"34 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141047105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Contrast transthoracic echocardiography in a patient with drug‐induced hypersensitivity syndrome with right atrial thrombus: A case report and mini review","authors":"Hui‐ru Zhu, Ting‐ting Ran, Xu Zhu, Xiaojuan Ji","doi":"10.1002/pdi3.52","DOIUrl":"https://doi.org/10.1002/pdi3.52","url":null,"abstract":"","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"17 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140668254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chengjun Yu, Yi Wei, Qinlin Shi, Sheng Wen, Tao Lin, D. He, Guanghui Wei, Shengde Wu
The aim is to investigate the possible advantages and disadvantages of contralateral testicular fixation (CTF) for boys with testicular torsion (TT) by long‐term clinical follow‐up results. A retrospective cohort study was conducted on TT boys at Children’s Hospital of Chongqing Medical University from September 2005 to December 2020. The baseline characteristics, intraoperative findings, and clinical follow‐up results were compared between TT patients underwent orchiopexy with or without CTF, and orchiectomy with or without CTF, respectively. The χ2 test and the Fisher’s Exact test were used to compare dichotomous outcomes, and the Mann‐Whitney U test was used to compare continuous outcomes without normal distribution. A total of 140 cases were included in this study. The bell clapper deformity was found in 30.4% of all torsed testes underwent orchiopexy, 16.4% during contralateral testicular exploration, and only 10.9% in bilateral sides. Contralateral testicular volume, adverse events, and paternity rates were comparable between patients underwent orchiopexy with or without CTF, and no subsequent contralateral TT observed during follow‐up. However, those patients underwent orchiectomy without CTF had more incidence of scrotal discomfort than those had orchiectomy with CTF (P = 0.027). In addition, one boy suffered subsequent contralateral TT after orchiectomy without CTF. The incidence of bell clapper deformity was lower in this research than that of literature reports. CTF would not induce testicular volume loss, atrophy or scrotal pain. Contralateral testicular discomfort and even subsequent TT could be more easily observed during follow‐up in patients without CTF. We still recommend routine surgical fixation of contralateral testicle during surgery.
{"title":"Follow‐up results regarding fixation of contralateral testis after testicular torsion in children","authors":"Chengjun Yu, Yi Wei, Qinlin Shi, Sheng Wen, Tao Lin, D. He, Guanghui Wei, Shengde Wu","doi":"10.1002/pdi3.48","DOIUrl":"https://doi.org/10.1002/pdi3.48","url":null,"abstract":"The aim is to investigate the possible advantages and disadvantages of contralateral testicular fixation (CTF) for boys with testicular torsion (TT) by long‐term clinical follow‐up results. A retrospective cohort study was conducted on TT boys at Children’s Hospital of Chongqing Medical University from September 2005 to December 2020. The baseline characteristics, intraoperative findings, and clinical follow‐up results were compared between TT patients underwent orchiopexy with or without CTF, and orchiectomy with or without CTF, respectively. The χ2 test and the Fisher’s Exact test were used to compare dichotomous outcomes, and the Mann‐Whitney U test was used to compare continuous outcomes without normal distribution. A total of 140 cases were included in this study. The bell clapper deformity was found in 30.4% of all torsed testes underwent orchiopexy, 16.4% during contralateral testicular exploration, and only 10.9% in bilateral sides. Contralateral testicular volume, adverse events, and paternity rates were comparable between patients underwent orchiopexy with or without CTF, and no subsequent contralateral TT observed during follow‐up. However, those patients underwent orchiectomy without CTF had more incidence of scrotal discomfort than those had orchiectomy with CTF (P = 0.027). In addition, one boy suffered subsequent contralateral TT after orchiectomy without CTF. The incidence of bell clapper deformity was lower in this research than that of literature reports. CTF would not induce testicular volume loss, atrophy or scrotal pain. Contralateral testicular discomfort and even subsequent TT could be more easily observed during follow‐up in patients without CTF. We still recommend routine surgical fixation of contralateral testicle during surgery.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"15 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140753612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The incidence rate of spinal cord injury in children is lower than that in adults, accounting for about 5% of all spinal cord injuries. Motor vehicle accidents are the main cause of spinal cord injuries in children. As the spine of children is still in the process of growth and development, the anatomical structure and biomechanics have unique characteristics, and its etiology, injury site, and clinical manifestations are different from those of adults. Misdiagnosis and delayed diagnosis can lead to severe spinal deformity and neurological complications. Children and adolescents with spinal cord injuries may suffer from lifelong disability, which will do great harm to children, families, and society. Early magnetic resonance imaging examination can effectively avoid underdiagnosis of spinal cord injury without radiographic abnormality and select appropriate treatment. In addition, it is also important to establish a family‐centered rehabilitation model to help the affected children reintegrate into society and achieve the goal of returning to normal life. This article reviews the etiology, epidemiology, clinical characteristics, complications, and treatment of spinal cord injury in children and adolescents.
{"title":"Advance in pediatric spinal cord injury","authors":"Jian Zheng, Guoxin Nan","doi":"10.1002/pdi3.55","DOIUrl":"https://doi.org/10.1002/pdi3.55","url":null,"abstract":"The incidence rate of spinal cord injury in children is lower than that in adults, accounting for about 5% of all spinal cord injuries. Motor vehicle accidents are the main cause of spinal cord injuries in children. As the spine of children is still in the process of growth and development, the anatomical structure and biomechanics have unique characteristics, and its etiology, injury site, and clinical manifestations are different from those of adults. Misdiagnosis and delayed diagnosis can lead to severe spinal deformity and neurological complications. Children and adolescents with spinal cord injuries may suffer from lifelong disability, which will do great harm to children, families, and society. Early magnetic resonance imaging examination can effectively avoid underdiagnosis of spinal cord injury without radiographic abnormality and select appropriate treatment. In addition, it is also important to establish a family‐centered rehabilitation model to help the affected children reintegrate into society and achieve the goal of returning to normal life. This article reviews the etiology, epidemiology, clinical characteristics, complications, and treatment of spinal cord injury in children and adolescents.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":" 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140215651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalities, among which FANCA is the most common. We report a case of a Chinese girl with bone dysplasia and aplastic anemia. The next‐generation sequencing results showed a homozygous mutation in the FANCA gene (c.2222G > A), which was predicted to be a pathogenic mutation based on protein function. This mutation at this site has not been reported in the previous literature. The diagnosis of Fanconi anemia should be determined with combined clinical, chromosome breakage test and gene sequencing results.
{"title":"Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia","authors":"Xianhao Wen, Hongcheng Qin, Meiling Liao, Xianmin Guan","doi":"10.1002/pdi3.63","DOIUrl":"https://doi.org/10.1002/pdi3.63","url":null,"abstract":"Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalities, among which FANCA is the most common. We report a case of a Chinese girl with bone dysplasia and aplastic anemia. The next‐generation sequencing results showed a homozygous mutation in the FANCA gene (c.2222G > A), which was predicted to be a pathogenic mutation based on protein function. This mutation at this site has not been reported in the previous literature. The diagnosis of Fanconi anemia should be determined with combined clinical, chromosome breakage test and gene sequencing results.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"173 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140235602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study aimed to visualize the knowledge structure and research trends in neonatal sepsis research through bibliometric methods. Articles and reviews regarding neonatal sepsis from 2002 to 2022 were retrieved from the Web of Science Core Collection database. CiteSpace software was used to visualize the knowledge network of countries/regions, institutions, authors, journals, keywords, and references in this field. Altogether, 2314 publications were identified. During the study period, the number of publications increased yearly. The USA is the leading country in neonatal sepsis research. Duke University was the most prolific institution, with Pediatric Infectious Disease Journal and BASU S being the most prolific journal and author in the field, respectively. Pathogen, diagnosis, and management were the main topics of research, and future studies may concentrate on novel diagnostic biomarkers and judicious use of antibiotics. In summary, the results of our bibliometric analysis revealed views on the current situation and trends of neonatal sepsis research for the first time. This study may provide guidance for promoting research on neonatal sepsis.
本研究旨在通过文献计量学方法直观了解新生儿败血症研究的知识结构和研究趋势。研究人员从 Web of Science Core Collection 数据库中检索了 2002 年至 2022 年有关新生儿败血症的文章和综述。使用 CiteSpace 软件可视化该领域的国家/地区、机构、作者、期刊、关键词和参考文献的知识网络。总共确定了 2314 篇出版物。在研究期间，论文数量逐年增加。美国是新生儿败血症研究的领先国家。杜克大学是发表论文最多的机构，《儿科传染病杂志》和《巴苏S》分别是该领域发表论文最多的杂志和作者。病原体、诊断和处理是主要的研究课题，未来的研究可能集中在新型诊断生物标志物和抗生素的合理使用上。总之，我们的文献计量分析结果首次揭示了新生儿败血症研究的现状和趋势。这项研究可为促进新生儿败血症研究提供指导。
{"title":"Bibliometric analysis of neonatal sepsis from 2002 to 2022","authors":"Chang Liu, Feifan Chen, Yuan Shi","doi":"10.1002/pdi3.49","DOIUrl":"https://doi.org/10.1002/pdi3.49","url":null,"abstract":"This study aimed to visualize the knowledge structure and research trends in neonatal sepsis research through bibliometric methods. Articles and reviews regarding neonatal sepsis from 2002 to 2022 were retrieved from the Web of Science Core Collection database. CiteSpace software was used to visualize the knowledge network of countries/regions, institutions, authors, journals, keywords, and references in this field. Altogether, 2314 publications were identified. During the study period, the number of publications increased yearly. The USA is the leading country in neonatal sepsis research. Duke University was the most prolific institution, with Pediatric Infectious Disease Journal and BASU S being the most prolific journal and author in the field, respectively. Pathogen, diagnosis, and management were the main topics of research, and future studies may concentrate on novel diagnostic biomarkers and judicious use of antibiotics. In summary, the results of our bibliometric analysis revealed views on the current situation and trends of neonatal sepsis research for the first time. This study may provide guidance for promoting research on neonatal sepsis.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140237334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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