Translational pediatrics最新文献

{"title":"Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel <i>JAG1</i> and <i>NOTCH2</i> mutations.","authors":"Lingli Chen, Jie Chen, Jingan Lou, Jindan Yu","doi":"10.21037/tp-24-301","DOIUrl":"https://doi.org/10.21037/tp-24-301","url":null,"abstract":"<p><strong>Background: </strong>Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.</p><p><strong>Methods: </strong>From August 2016 to August 2022, 14 children with ALGS were enrolled in this retrospective study. Clinical and related data were obtained from medical records.</p><p><strong>Results: </strong>Among the 14 patients, 11 were males and 3 were females. The age of first manifestation of liver disease mean (Q1, Q3) was 0.4 (0.1, 37.0) months, and the age of diagnosis mean (Q1, Q3) was 5.6 (2.4, 48.5) months. Cholestasis was seen in 14 patients, cardiac defects in eight, characteristic facial features in 11, skeletal abnormalities in six, and renal abnormality in one. Among eight patients who underwent ophthalmological examination, posterior embryotoxon was seen in two. We identified 12 different <i>JAG1</i> gene mutations and two different <i>NOTCH2</i> gene variations. Among the mutations detected, six were novel, including c.2849_2850del (p.S950*), c.35_45delGCCCCCTAAGC (p.R12Pfs*57), c.1860delC (p.F621Sfs*122), and c.1293_1294insTAGTAGACA (p.A432*) in <i>JAG1</i>, and c.6040_6041 del (p.L2014Vfs*10) and c.1915+1G>T (splicing) in <i>NOTCH2</i>. The follow-up time mean (Q1, Q3) was 48.5 (11.5, 69.0) months; four patients had delayed growth, eight had pruritus, two had xanthomas, seven had elevated bilirubin, and 13 had elevated transaminase. All patients were stable after medical treatment.</p><p><strong>Conclusions: </strong>ALGS presents a variety of clinical manifestations. Some patients may be misdiagnosed with biliary atresia due to bile duct proliferation in liver biopsies along with biochemical abnormalities. Genetic testing is helpful for early diagnosis. <i>JAG1</i> and <i>NOTCH2</i> gene mutant spectra are abundant and there are many novel mutations in Chinese children with ALGS.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2144-2154"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012348","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":"<i>MiR-490-3p</i> promotes cell apoptosis and cell-cycle arrest in osteosarcoma via the modulation of CDCA8/ATF3 by targeting NUSAP1.","authors":"Haoran Wang, Hanqing Wang, Zixiang Liu, Peng Wu, Rongdan Dai, Dongsheng Hong, Tomoki Nakamura, Weiwei Ren","doi":"10.21037/tp-2024-529","DOIUrl":"10.21037/tp-2024-529","url":null,"abstract":"<p><strong>Background: </strong><i>Micro RNA-490-3p</i> (<i>miR-490-3p</i>) is associated with a variety of malignancies. However, the role of <i>miR-490-3p</i> in osteosarcoma and its underlying mechanism are not yet fully understood. This study aimed to explore the role and the mechanism of <i>miR-490-3p</i> in osteosarcoma.</p><p><strong>Methods: </strong><i>MiR-490-3p</i> and nucleolar and spindle-associated protein 1 (NUSAP1) expression in osteosarcoma was detected using real-time quantitative polymerase chain reaction (RT-qPCR). Cell Counting Kit-8 (CCK-8), wound-healing, and transwell assays were used to detect cell proliferation, migration and invasion. Terminal deoxynucleotidyl transferase dUTP nick end labelling (TUNEL) and western blot were used to evaluate the cell apoptosis. Flow cytometry was used to assess the cell cycle. In addition, luciferase reporter assay was used to confirm the binding of <i>miR-490-3p</i> and NUSAP1. Western blot and RT-qPCR was used to examine cell division cycle associated 8 (CDCA8) and activating transcription factor 3 (ATF3) expression.</p><p><strong>Results: </strong><i>MiR-490-3p</i> expression was significantly decreased in the osteosarcoma cells. Following the transfection with <i>miR-490-3p</i> mimic, it was found that 143B cell proliferation, migration, and invasion were inhibited, while the cell apoptotic levels and cell-cycle arrest were promoted, accompanied with decreased B cell lymphoma protein-2 (Bcl-2) protein expression, and increased protein expressions of Bcl-2-associated X (Bax), cleaved caspase-3, and cleaved caspase-9. In addition, <i>miR-490-3p</i> was found to bind to NUSAP1, and negatively regulate NUSAP1 expression. NUSAP1 upregulation reversed the inhibitory effects of <i>miR-490-3p</i> overexpression on cell proliferation, migration, and invasion, and the promoting effects on cell apoptosis and cell-cycle arrest in osteosarcoma. Moreover, <i>miR-490-3p</i> was identified to mediate CDCA8/ATF3 by targeting NUSAP1.</p><p><strong>Conclusions: </strong><i>MiR-490-3p</i> upregulation inhibited cell proliferation and metastasis but promoted the cell apoptosis and cell-cycle arrest in osteosarcoma via the regulation of CDCA8/ATF3 by targeting NUSAP1. Thus, <i>miR-490-3p</i> might be a potential therapeutic target for the treatment of osteosarcoma.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2242-2253"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012138","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":"Efficacy of prophylactic sodium valproate in pediatric migraines: a systematic review of randomized clinical studies.","authors":"Ghida Askar, Omar Askar, Maryam Altuhafy, Ravleen Nagi, Junad Khan","doi":"10.21037/tp-24-279","DOIUrl":"10.21037/tp-24-279","url":null,"abstract":"<p><strong>Background: </strong>Migraine is a neurological disorder that is chronic and presents with episodes of paroxysmal features consisting of multiphase attacks of head pain, along with other symptoms related to neurological dysfunction such as sensitivity to movement, photophobia, phonophobia, nausea, and vomiting. Antiseizure medications are frequently used for the treatment of migraine. Of the antiseizure medications, sodium valproate and topiramate have received approval from the Food and Drug Administration (FDA) to prevent adult migraine. More recently, topiramate gained approval for pediatric migraine, whereas sodium valproate did not. Nevertheless, the off-label utilization of these drugs for pediatric migraine is widespread. The objective of this review is to assess the prophylactic efficacy of sodium valproate in the management of pediatric migraines.</p><p><strong>Methods: </strong>The protocol of this study was registered with PROSPERO (CRD42023454491). Therefore, this systematic review aims to assess the efficacy of sodium valproate as a prophylaxis treatment for pediatric migraine. A comprehensive unrestricted search of indexed databases, including PubMed, Embase, Web of Science, and Cochrane, was conducted without any restrictions until May 2024.</p><p><strong>Results: </strong>The review included five randomized controlled trials (RCTs). Among these, two exhibited a generally low risk of bias (RoB), while the remaining RCTs demonstrated a high risk for bias.</p><p><strong>Conclusions: </strong>The findings from the current evidence suggest no significant differences in the effectiveness of sodium valproate compared to other frequently used medications in preventing pediatric migraine. Subsequent studies should maintain uniformity in their protocol design and introduce blinding methodologies across outcome assessment, participants, and researchers. These strategies hold significant importance in mitigating potential sources of bias.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2254-2266"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012422","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":"Epidemiological characteristics of community-acquired <i>Mycoplasma</i> pneumoniae in hospitalized children around COVID-19 from Jiangsu Province, China: a multicenter retrospective study.","authors":"Yi Hong, He Huang, Zizhen Zhang, Xuguo Wang, Huaqing Liu, Xiangying Meng, Xingqiang Dong, Feng Zhu, Zhenjiang Bai, Meihua Lu, Shuiyan Wu, Wei Jiang, Yanhong Lu","doi":"10.21037/tp-24-281","DOIUrl":"10.21037/tp-24-281","url":null,"abstract":"<p><strong>Background: </strong>It has been reported that the emergence of coronavirus disease 2019 (COVID-19) has changed the epidemiological characteristics of many pathogens, but the epidemiological characteristics of <i>Mycoplasma</i> (MP) infection in hospitalized children with community-acquired pneumonia (CAP) are not clear. The aim of this study was to answer this question.</p><p><strong>Methods: </strong>Children with CAP in three tertiary hospitals (hospitals A, B and C) from 2018 to 2023 were selected. Data on gender, age, number and date of MP infection were obtained from the medical record. The intensity of the epidemic was measured as a percentage of the number of CAP.</p><p><strong>Results: </strong>In hospitals A and B, before the pandemic (in 2018 and 2019), the number of hospitalized children with MP pneumonia and the proportion of total pneumonia had shown a significant upward trend, but the control measures led to a slight decline. In hospital C, the number and percentage of hospitalized children with MP pneumonia were low before and during the COVID-19 period. After the epidemic control was lifted, the number and percentage of children with MP pneumonia in the three hospitals increased sharply, and the proportion of children aged more than 7 years old increased significantly in 2022 and 2023.</p><p><strong>Conclusions: </strong>From 2018 to 2019, there was already an epidemic trend of MP in the study hospital. From 2020 to 2022, after the outbreak of COVID-19, the incidence of MP pneumonia stabilized, but after the epidemic control was lifted, it broke out. This may be due to the severe restrictive measures taken early during the COVID-19 pandemic that effectively controlled the spread of MP, pausing its pandemic.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2155-2163"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012426","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":"Aggressive behavior in adolescent patients with mental disorders: what we can do.","authors":"Shuang Yu, Yuan Ma, Lihong Chao, Lingyan Jiang","doi":"10.21037/tp-24-330","DOIUrl":"https://doi.org/10.21037/tp-24-330","url":null,"abstract":"<p><strong>Background: </strong>Aggressive behavior in adolescent patients is a common phenomenon in clinical treatment and nursing care. The objective of this study was to conduct an assessment of the prevailing patterns and determinants of aggressive behavior among adolescents with mental disorders, with the intent to offer valuable insights for enhancing clinical intervention and nursing practices.</p><p><strong>Methods: </strong>Adolescent patients with mental disorders admitted to the psychiatric department of Suzhou Guangji Hospital from January 1, 2022, to June 30, 2024 were included. The characteristics of patients with or without aggressive behavior were compared and evaluated. Multivariate logistic regression analysis was conducted to evaluate the factors influencing aggressive behavior in adolescents with mental disorders.</p><p><strong>Results: </strong>There were 395 adolescent patients with mental disorders included in the study, with 42 patients having aggressive behavior, and the incidence of aggressive behavior in adolescent patients with mental disorders was 10.63%. Pearson correlation analysis revealed that age (r=0.459), only child (r=0.583), education level (r=0.497), pre-morbid personality (r=0.520), and history of past aggressive behavior (r=0.516) were related with the aggressive behavior in adolescent patients with mental disorders. Age [odds ratio (OR) =1.766; 95% confidence interval (CI): 1.213-1.980], only child (OR =2.642; 95% CI: 2.009-2.858), education level (OR =1.823; 95% CI: 1.104-2.518), pre-morbid personality (OR =2.336; 95% CI: 1.991-2.694) and history of past aggressive behavior (OR =2.708; 95% CI: 2.357-3.102) were the influencing factors for aggressive behavior.</p><p><strong>Conclusions: </strong>The incidence of aggressive behavior in adolescent patients with mental disorders is relatively high and influenced by a multitude of factors. The healthcare team should conduct a thorough nursing assessment to identify potential triggers and implement targeted nursing strategies to mitigate the aggressive behavior.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2183-2192"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012140","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":"Clinical imaging and pathology analysis of Epstein-Barr virus-associated monomorphic lymphoproliferative disease after liver transplantation in children-a retrospective case series.","authors":"Lian Yang, Jin Zhu, Wenwen Li, Man Xu, Yanni Hu","doi":"10.21037/tp-24-311","DOIUrl":"10.21037/tp-24-311","url":null,"abstract":"<p><strong>Background: </strong>Post-transplant lymphoproliferative disease (PTLD) is a significant complication that can arise following solid organ transplantation or hematopoietic stem cell transplantation. It encompasses a spectrum of lymphoproliferative lesions, ranging from benign reactive hyperplasia to malignant tumors, and is among the most severe complications following liver transplantation in children. It is essential for clinicians to gain a comprehensive understanding of the prevention, clinical manifestations, early diagnosis, and treatment strategies for PTLD in order to reduce mortality rates.</p><p><strong>Case description: </strong>This study presents an analysis of six pediatric patients (three females and three males) diagnosed with monomorphic PTLD occurred at intervals of 1 month and 3 years post-transplantation. Five were localized in the gastrointestinal tract, while one was identified in the lymph nodes. The pathological diagnoses included diffuse large B-cell lymphoma (DLBCL) in three instances, Burkitt lymphoma in two, and peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) in one. Testing for Epstein-Barr virus-encoded RNA (EBER) yielded positive results in all cases. Following the reduction or cessation of immunosuppressive, antineoplastic, and anti-inflammatory medications, three patients succumbed within three months, while the remaining three patients were monitored for a duration of 6 to 13 months and remained in good condition.</p><p><strong>Conclusions: </strong>The clinical manifestations of PTLD following liver transplantation are complex. Close monitoring of serum Epstein-Barr virus (EBV) levels after transplantation, along with early diagnosis of PTLD through imaging and pathological examinations, can assist clinicians in developing individualized treatment strategies to enhance patient prognosis.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2282-2291"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012352","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":"Causal association between pregnancy disorders and neonatal jaundice: a two-sample Mendelian randomization study.","authors":"Yingying Wang, Shanshan Li, Jiajin Lu, Tianming Yuan","doi":"10.21037/tp-24-335","DOIUrl":"10.21037/tp-24-335","url":null,"abstract":"<p><strong>Background: </strong>Some studies have suggested that complications during pregnancy, such as preeclampsia, leiomyoma during pregnancy, oxytocin induction, and mode of delivery, may be risk factors for neonatal jaundice. Herein, we applied Mendelian randomization (MR) analysis to investigate a causal association between pregnancy disorders and neonatal jaundice.</p><p><strong>Methods: </strong>Data related to neonatal jaundice and pregnancy disorders (including pre-eclampsia or eclampsia, gestational diabetes, and gestational edema) were sourced from the FinnGen Consortium and Integrated Epidemiology Unit (IEU) databases. Inverse-variance weighted (IVW) was used as a main approach for data analysis, while MR-Egger, weighted median (WM), and weighted mode methods were used to validate the robustness of the results. MR-Egger regression method was applied to explore the presence of horizontal pleiotropy. MR pleiotropy residual sum and outlier (MR-PRESSO) method was used to detect potential outliers. Cochran's Q test was used to assess heterogeneity among instrumental variables (IVs); leave-one-out (LOO) analyses were used to evaluate the presence of predominant IVs.</p><p><strong>Results: </strong>The IVW approach showed that pre-eclampsia or eclampsia {odds ratio (OR) [95% confidence interval (CI)]: 0.86 (0.36-2.07), P=0.73}, gestational edema and proteinuria [OR (95% CI): 1.04 (0.62-1.74), P=0.87], and gestational diabetes mellitus [OR (95% CI): 0.95 (0.60-1.49), P=0.81] were not associated with neonatal jaundice. The MR-Egger regression results showed that horizontal pleiotropy did not affect the relationship between exposure factors and outcomes. Also, no heterogeneity was observed. The MR-PRESSO analysis showed no outliers, confirming that these data were robust.</p><p><strong>Conclusions: </strong>Our data suggested no genetic causal association between pre-eclampsia or eclampsia, gestational edema, proteinuria, gestational diabetes mellitus, and neonatal jaundice. However, further research is needed to determine if these results apply to other races.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2193-2203"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012399","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":"Anesthetics change the oral microbial composition of children and increase the abundance of the genus <i>Haemophilus</i>.","authors":"Dandan Xie, Nan Zhang, Yipeng Hu, Qiang Li, Yunfei Yang, Yingping Zou, Yanxiang Lu, Wei Hu, Lian Guo, Hong Li","doi":"10.21037/tp-24-336","DOIUrl":"https://doi.org/10.21037/tp-24-336","url":null,"abstract":"<p><strong>Background: </strong>Oral microbiome homeostasis is important for children's health, and microbial community is affected by anesthetics. The application of anesthetics in children's oral therapy has become a relatively mature method. This study aims to investigate the effect of different anesthesia techniques on children's oral microbiota.</p><p><strong>Methods: </strong>Sixty children who visited the Department of Stomatology of the Jiangxi Provincial Children's Hospital were recruited. Subjects who did not receive anesthesia during the surgery were divided into non-anesthesia (Noa) group. Other children who accepted anesthesia during the surgery were grouped into lidocaine group, sevoflurane group, and intravenous injection-inhalation (intra-inhalation) group. Subsequently, their saliva samples were collected for 16S rDNA sequencing.</p><p><strong>Results: </strong>A total of 1,316 operational taxonomic units (OTUs) were identified in overall samples, and 75,275 reads per sample were obtained on average. There were 137 genera were shared among the Noa, lidocaine, sevoflurane, and intra-inhalation groups. The genera <i>Neisseria</i>, <i>Prevotella-7, Streptococcus</i>, and <i>Veillonella</i> had a higher abundance in the four groups. Compared to the Noa group, anesthetics increased the abundance of the genus <i>Haemophilus</i> in the anesthesia groups. Alpha and beta diversity analyses revealed significant differences in the comparisons of Noa <i>vs.</i> sevoflurane and Noa <i>vs.</i> intra-inhalation. In contrast, the difference between the lidocaine and the Noa groups was slight. Linear discriminant analysis effect size (LEfSe) analyses identified 52, 16, and 37 differential microbes in the Noa <i>vs.</i> sevoflurane, Noa <i>vs.</i> lidocaine, and Noa <i>vs.</i> intra-inhalation comparisons, respectively. Notably, <i>Haemophilus</i> genus was significantly enriched in the sevoflurane group compared to the Noa group. When comparing the Noa group with the other three anesthesia groups, between-group pathway differences were found in amino acid metabolism, energy metabolism, biofilm formation, cofactor and vitamin metabolism, and antibiotic synthesis.</p><p><strong>Conclusions: </strong>This study elucidated oral microbiome characteristics in children under different anesthesia technology and found an enrichment of <i>Haemophilus</i> genus in the sevoflurane group compared to the Noa group. Our findings provide new insights into the effect of anesthetic on oral microbiota of children.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2097-2109"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012144","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":"Intravenous versus intramuscular route of administration of natural adrenocorticotropic hormone in infantile epileptic spasm syndrome.","authors":"Juan Wu, Xiao-Lu Chen, Qiu-Ji Tao, Jing Chen","doi":"10.21037/tp-24-390","DOIUrl":"https://doi.org/10.21037/tp-24-390","url":null,"abstract":"<p><strong>Background: </strong>Infantile epileptic spasm syndrome (ISS) is an age-dependent epileptic condition typically emerging within the first year of life, and adrenocorticotropic hormone (ACTH) has been established as a first-line therapeutic drug for the ISS since 1958. However, there is a notable variation in ACTH dosage practices worldwide, with intramuscular injection being common in some countries and intravenous drip preferred in others, including China. This study aimed to identify a preferable administration modality for ACTH-based utilization in treating ISS.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 221 ISS patients treated with ACTH via the two administration routes from January 2021 to December 2022. Clinical efficacy and adverse effects were assessed. Health economics were evaluated using a cost-effectiveness ratio, incorporating direct costs and a comprehensive effectiveness indicator.</p><p><strong>Results: </strong>Intramuscular injection demonstrated a higher effective rate (97.20%) compared to intravenous infusion (80.50%). Adverse effects such as upper respiratory tract infections and diarrhea were significantly less in the intramuscular group. The unit effectiveness cost was significantly lower for intramuscular injection (¥19.53) than for intravenous infusion (¥32.86).</p><p><strong>Conclusions: </strong>Although both routes of administration were successful in controlling spasms in patients, intramuscular injection of ACTH was deemed economically preferable due to its superior clinical efficacy, less adverse effects, and higher safety profile.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2214-2220"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012438","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":"Clarifying the role of perampanel in pediatrics with Dravet syndrome: addressing concerns and evidence.","authors":"Osama Y Muthaffar, Ahmed K Bamaga, Anas S Alyazidi, Layan S Baaishrah, Hussain A Alkhalifah, Rafah B Hariri, Maya S Khider, Sereen A Alahmadi","doi":"10.21037/tp-2024-508","DOIUrl":"10.21037/tp-2024-508","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2316-2317"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012403","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}