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Function and dysfunction of GEMIN5:understanding a novel neurodevelopmental disorder

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Neural Regeneration Research 2024年第11期19卷 2377-2386页

作者： Charles H.Nelson Udai B.Pandey Department of Pediatrics Division of Child NeurologyChildren’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA children’s Neuroscience Institute Children’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA

The recent identification of a neurodevelopmental disorder with cerebellar atrophy and motor dysfunction(NEDCAM)has resulted in an increased interest in GEMIN5,a multifunction RNA-binding *** the largest member of the survival motor neuron complex,GEMIN5 plays a key role in the biogenesis of small nuclear ribonucleoproteins while also exhibiting translational regulatory functions as an independent *** many questions remain regarding both the pathogenesis and pathophysiology of this new disorder,considerable progress has been made in the brief time since its *** this review,we examine GEMIN5 within the context of NEDCAM,focusing on the structure,function,and expression of the protein specifically in regard to the disorder ***,we explore the current animal models of NEDCAM,as well as potential molecular pathways for treatment and future directions of *** review provides a comprehensive overview of recent advances in our understanding of this unique member of the survival motor neuron complex.

关键词： cerebellar atrophy GEMIN5 neurodevelopmental disorder neurological disease sMN complex

somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

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Pediatric Investigation 2024年第2期8卷 117-125页

作者： Bin Zhang Rui He Riga Wu Zhou Yang Man Hu Nan Zhang Wu Guo Zigang Xu Lin Ma Department of Dermatology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Dermatology Zhengzhou UniversityAffiliated Children’s HospitalHenan Children’s HospitalZhengzhou Children’s HospitalZhengzhouChina Department of Dermatology Affiliated Hospital of Inner Mongolia Medical UniversityHohhotChina Department of Ophthalmology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pathology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Postzygotic mutations in the GNAQ/GNA11 genes,which encode the G-protein nucleotide binding protein alpha subunits,have been identified in patients with phakomatosis pigmentovascularis(PPV).However,little is known about the Chinese ***:To identify pathogenic mutations in pediatric patients with PPV within the Chinese ***:We performed whole-exome sequencing(WEs)using skin lesion tissues from pediatric patients diagnosed with ***,ultradeep-targeted sequencing was conducted to validate the somatic mutations.A genotype-phenotype correlation was analyzed by integrating data from previous reports with the findings of the present ***:Thirteen patients were enrolled,all diagnosed with the cesioflammea type of PPV,except for one patient with an unclassifiable *** identified somatic GNA11 c.547C>T(p.R183C)variant in seven patients and GNAQ c.548G>A(p.R183Q)in four patients,with low allelic fractions ranging from 2.1%to 8.6%through ultradeep ***,a GNAQ c.548G>A(p.R183Q)variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via *** genotype-phenotype correlation analysis,involving 15 patients with a GNA11 variant and 10 with a GNAQ variant,revealed that facial capillary malformation(87%vs.50%,P=0.075)and ocular melanocytosis(80%vs.40%,P=0.087)appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ *** four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 ***:Our study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11,thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.

关键词： Phakomatosis pigmentovascularis GNA11 GNAQ somatic variant

severe pediatric COVID‑19:a review from the clinical and immunopathophysiological perspectives

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World Journal of Pediatrics 2024年第4期20卷 307-324页

作者： Yi‑Kan sun Can Wang Pei‑Quan Lin Lei Hu Jing Ye Zhi‑Gang Gao Ru Lin Hao‑Min Li Qiang shu Li‑su Huang Lin‑Hua Tan children's hospital Zhejiang University School of MedicineHangzhou 310052China The second Affiliated hospital Zhejiang University School of MedicineHangzhou 310030China surgical Intensive Care Unit Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of General surgery Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of Cardiopulmonary and Extracorporeal Life support Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Clinical Data Center Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of Cardiac surgery Children’s HospitalZhejiang University School of MedicineHangzhou 310052China National Clinical Research Center for Child Health Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of Infectious Diseases Children’s HospitalZhejiang University School of MedicineHangzhou 310052China

Background Coronavirus disease 2019(COVID-19)tends to have mild presentations in ***,severe and critical cases do arise in the pediatric population with debilitating systemic impacts and can be fatal at times,meriting further attention from ***,the intricate interactions between the pathogen virulence factors and host defense mechanisms are believed to play indispensable roles in severe COVID-19 pathophysiology but remain incompletely *** sources A comprehensive literature review was conducted for pertinent publications by reviewers independently using the PubMed,Embase,and Wanfang *** keywords included“COVID-19 in children”,“severe pediatric COVID-19”,and“critical illness in children with COVID-19”.Results Risks of developing severe COVID-19 in children escalate with increasing numbers of co-morbidities and an unvaccinated *** respiratory distress stress and necrotizing pneumonia are prominent pulmonary manifestations,while various forms of cardiovascular and neurological involvement may also be *** immunological processes are implicated in the host response to COVID-19 including the type I interferon and inflammasome pathways,whose dysregulation in severe and critical diseases translates into adverse clinical *** inflammatory syndrome in children(MIs-C),a potentially life-threatening immune-mediated condition chronologically associated with COVID-19 exposure,denotes another scientific and clinical conundrum that exemplifies the complexity of pediatric *** the considerable dissimilarities between the pediatric and adult immune systems,clinical trials dedicated to children are lacking and current management recommendations are largely adapted from adult *** severe pediatric COVID-19 can affect multiple organ *** dysregulated immune pathways in severe COVID-19 shape the disease course,epitomize the vast functional diversity of the

关键词： Immunopathophysiology MIs-C Pediatric critical care severe pediatric COVID-19

Proteomic profiling of cerebrospinal fluid in pediatric myelin oligodendrocyte glycoprotein antibody-associated disease

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World Journal of Pediatrics 2024年第3期20卷 259-271页

作者： Yi-Long Wang Meng-Ying Zhu Zhe-Feng Yuan Xiao-Yan Ren Xiao-Tong Guo Yi Hua Lu Xu Cong-Ying Zhao Li-Hua Jiang Xin Zhang Guo-Xia sheng Pei-Fang Jiang Zheng-Yan Zhao Feng Gao Department of Neurology Children's HospitalZhejiang University School of MedicineHangzhou 310052China children's hospital Zhejiang University School of MedicineHangzhou 310052China children's hospital National Clinical Research Center for Child HealthZhejiang University School of MedicineHangzhou 310052China

Background Myelin oligodendrocyte glycoprotein(MOG)antibody-associated disease(MOGAD)is an autoimmune demy-elinating disorder of the central nervous *** Extracted proteins from 34 cerebrospinal fluid(CsF)samples[patients with MOGAD(MOG group,n=12);healthy controls(HC group,n=12);patients with MOG seronegative and metagenomics next-generation sequencing-negative inflammatory neurological diseases(IND group,n=10)]were processed and subjected to label-free quantitative *** partial least squares-discriminant analysis(PLs-DA)and orthogonal PLs-DA(O-PLs-DA)models were also performed based on proteomics *** analysis of differentially expressed proteins(DEPs)was performed using Gene Ontology,InterPro,and Kyoto Encyclopedia Genes and *** enzyme-linked immunosorbent assay was used to determine the complement levels in serum from patients with *** Four hundred and twenty-nine DEPs(149 upregulated and 280 downregulated proteins)were identified in the MOG group compared to the HC group according to the P value and fold change(FC).Using the O-PLs-DA model,872 differentially abundant proteins were identified with variable importance projection(VIP)scores>*** proteins(gamma-glutamyl hydrolase,cathepsin F,interalpha-trypsin inhibitor heavy chain 5,latent transforming growth factor beta-binding protein 4 and leukocyte-associated immunoglobulin-like receptor 1)overlapping between the top 30 DEPs with top-ranked P value and FC and top 30 proteins in PLs-DA VIP lists were *** analysis revealed that the dysregulated proteins in the MOG group were primarily involved in complement and coagulation cascades,cell adhesion,axon guidance,and glycosphingolipid biosynthesis compared to the HC *** The proteomic alterations in CsF samples from children with MOGAD identified in the current study might provide opportunities for developing novel biomarker candidates.

关键词： Acute disseminated encephalomyelitis Cerebrospinal fluid Complement cascades Myelin oligodendrocyte glycoprotein-associated disease Proteomics

CYP3A5 unexpectedly regulates glucose metabolism through the AKT-TXNIP-GLUT1 axis in pancreatic cancer

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Genes & Diseases 2024年第4期11卷 381-399页

作者： Ming shao Qingfei Pan Haiyan Tan Jing Wu Ha Won Lee Andrew D.Huber William C.Wright Ji-Hoon Cho Jiyang Yu Junmin Peng Taosheng Chen Department of Chemical Biology and Therapeutics St.Jude Children's Research HospitalMemphisTN 38105USA Department of Computational Biology St.Jude Children's Research HospitalMemphisTN 38105USA Center for Proteomics and Metabolomics St.Jude Children's Research HospitalMemphisTN 38105USA Department of structural Biology St.Jude Children's Research HospitalMemphisTN 38105USA Department of Developmental Neurobiology St.Jude Children's Research HospitalMemphisTN 38105USA

CYP3A5 is a cytochrome P450(CYP)enzyme that metabolizes drugs and contributes to drug resistance in ***,it remains unclear whether CYP3A5 directly influences cancer *** this report,we demonstrate that CYP3A5 regulates glucose metabolism in pancreatic ductal ***-omics analysis showed that CYP3A5 knockdown re-sults in a decrease in various glucose-related metabolites through its effect on glucose trans-port.A mechanistic study revealed that CYP3A5 enriches the glucose transporter GLUT1 at the plasma membrane by restricting the translation of TXNIP,a negative regulator of ***,CYP3A5-generated reactive oxygen species were proved to be responsible for atten-uating the AKT-4EBP1-TXNIP signaling ***3A5 contributes to cell migration by maintaining high glucose uptake in pancreatic *** together,our results,for the first time,reveal a role of CYP3A5 in glucose metabolism in pancreatic ductal adenocarcinoma and identify a novel mechanism that is a potential therapeutic target.

关键词： Cell migration CYP3A5 Glucose metabolism GLUT1 Pancreatic cancer TXNIP

X-box binding protein 1 caused an imbalance in pyroptosis and mitophagy in immature rats with di-(2-ethylhexyl)phthalate-induced testis toxicity

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Genes & Diseases 2024年第2期11卷 935-951页

作者： Yifan Hong Xiazhu Zhou Qi Li Jing Chen Yuexin Wei Chunlan Long Lianju shen Xiangqin Zheng Dinggang Li Xia Wang Chenjun Yu shengde Wu Guanghui Wei Department of Urology Children's Hospital of Chongqing Medical UniversityChongqing 400014China Pediatric Research Institute Children's Hospital of Chongqing Medical UniversityChongqing 400014China Chongqing Key Laboratory of children Urogenital Development and Tissue Engineering Children's Hospital of Chongqing Medical UniversityChongqing 400014China Chongqing Key Laboratory of Pediatrics Children's Hospital of Chongqing Medical UniversityChongqing 400014China Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical UniversityChongqing 400014China National Clinical Research Center for Child Health and Disorders Children's Hospital of Chongqing Medical UniversityChongqing 400014China China International science and Technology Cooperation Base of Child Development and Critical Disorders Children's Hospital of Chongqing Medical UniversityChongqing 400014China

As a widely used plasticizer,di-(2-ethylhexyl)phthalate(DEHP)is known to induce significant testicular ***,the potential mechanism and effects of pubertal exposure to DEHP on testis development remain *** vivo,postnatal day(PND)21 male rats were gavaged with 0,250,and 500 mg/kg DEHP for ten *** to the seminiferous epithelium and disturbed spermatogenesis were observed after DEHP ***,oxidative stress-induced injury and pyroptosis were *** endoplasmic reticulum(ER)stress and mitophagy were involved in this *** phthalate(MEHP)was used as the biometabolite of DEHP in *** GC-1 and GC-2 cell lines were exposed to 0,100μM,200μM,and 400μM MEHP for 24 *** oxygen species(ROs)generation,oxidative stress damage,ER stress,mitophagy,and pyroptosis were significantly increased after MEHP *** ultrastructure of the ER and mitochondria was destroyed.X-box binding protein 1(XBP1)was observed to be activated and translocated into the *** generation was inhibited by *** levels of antioxidative stress,ER stress,mitophagy,and pyroptosis were decreased as *** the administration of the ER stress inhibitor 4-phenyl-butyric acid,both mitophagy and pyroptosis were ***-induced XBP1 down-regulation decreased the levels of mitophagy and *** equilibrium between pyroptosis and mitophagy was disturbed by XBP1 *** summary,our findings confirmed that DEHP induced a ROs-mediated imbalance in pyroptosis and mitophagy in immature rat testes via ***,XBP1 might be the key target in DEHP-related testis dysfunction.

关键词： DEHP Mitophagy Pyroptosis Testicular development XBP1

Use of Patient-specific “4D” Tele-Education to Enhance Actual and Perceived Knowledge in Congenital Heart Disease (CHD) Patients

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Congenital Heart Disease 2024年第1期19卷 5-17页

作者： Molly Clarke Karin Hamann Nancy Klein Laura Olivieri Yue-Hin Loke Department of Inpatient Cardiology Boston Children’s HospitalBoston02115USA Department of Cardiology Children’s National HospitalWashington20001USA Department of Cardiology Noninvasive Cardiac ImagingUniversity of Pittsburgh Medical Center Children’s Hospital of PittsburghPittsburgh15224USA

Background:Patients with congenital heart disease(CHD)will transition to lifelong adult congenital cardiac ***,their structural heart disease is challenging to convey via two-dimensional *** study utilized a tele-educational environment,with personalized three-dimensional(3D)modeling and health Details(3D+Details=“4D”),to improve actual and perceived knowledge,both important components of transition readiness in CHD ***:Participants aged≥13 years with a history of CHD and cardiac magnetic resonance imaging(MRI)studies were *** MRI datasets were then used to segment and create 3D heart models(using Mimics,Materialize Inc.).Participantsﬁrst completed the MyHeart Questionnaire,a validated survey of actual knowledge.A tele-educational session was then scheduled,during which participants were shown a 3D model of a normal heart,followed by their personal 3D heart model and speciﬁc health *** then repeated the actual knowledge survey,in addition to questionnaires assessing perceived knowledge pre-and post-session,as well as a satisfaction ***:Twenty-two patients were *** knowledge increased from 75%±15%to 89%±20%(p=0.00043)and perceived knowledge increased inﬁve of seven *** knowledge correlated with perceived knowledge(r=0.608,ps ranked the 3D model as“very satisfactory”and ninety-ﬁve percent ranked the educational session as“very help-ful”or“extremely helpful.”Conclusions:The use of“4D”tele-education increased both actual and perceived knowledge and may help improve transition readiness in CHD patients.

关键词： Congenital heart disease tele-education transition

Expert consensus on the diagnosis, treatment, and prevention of respiratory syncytial virus infections in children

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World Journal of Pediatrics 2024年第1期20卷 11-25页

作者： Xian-Li Zhang Xi Zhang Wang Hua Zheng-De Xie Han-Min Liu Hai-Lin Zhang Bi-Quan Chen Yuan Chen Xin sun Yi Xu sai-Nan shu shun-Ying Zhao Yun-Xiao shang Ling Cao Yan-Hui Jia Luo-Na Lin Jiong Li Chuang-Li Hao Xiao-Yan Dong Dao-Jiong Lin Hong-Mei Xu De-Yu Zhao Mei Zeng Zhi-Min Chen Li-su Huang Department of Infectious Disease Children's HospitalZhejiang University School of Medicine3333 Binsheng RoadBinjiang DistrictHangzhou 310052China Clinical Research Unit Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina Beijing Pediatric Research Institute Beijing Children's HospitalCapital Medical UniversityBeijingChina Department of Pediatric Pulmonology West China Second University HospitalSichuan UniversityChengduChina Department of Pediatric Pulmonology the Second Affiliated Hospital&Yuying Children's HospitalWenzhou Medical UniversityWenzhouChina Department of Infectious Disease Anhui Provincial Children's HospitalHefeiChina Department of Pediatrics the Second Hospital of Hebei Medical UniversityShijiazhuangChina Department of Pediatrics Xijing Hospitalthe Fourth Military Medical UniversityXi'anChina Department of Infectious Disease Guangzhou Women and Children's Medicine CenterGuangzhou Medicine UniversityGuangzhouChina Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina Department of Respiratory Disease Beijing Children's HospitalCapital Medical UniversityBeijingChina Department of Pediatric Respiratory Shengjing Hospital of China Medical UniversityShenyangChina Respiratory Department Children's Hospital Affiliated to Capital Institute of PediatricsBeijingChina Department of Clinical Epidemiology Aarhus UniversityAarhusDenmark Department of Respirology Children's Hospital of Soochow UniversitySuzhouChina Department of Respiratory Children's Hospital of ShanghaiChildren's Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina Department of Infectious Disease Hainan Women and Children's Medical CenterHaikouChina Department of Infectious Disease Children's Hospital of Chongqing Medical UniversityChongqingChina Department of Respiratory Children's Hospital of Nanjing Medical UniversityNanjingChina Department of Infectious Di

Background Respiratory syncytial virus(RsV)is the leading global cause of respiratory infections and is responsible for about 3 million hospitalizations and more than 100,000 deaths annually in children younger than 5 years,representing a major global healthcare *** is a great unmet need for new agents and universal strategies to prevent RsV infections in early life.A multidisciplinary consensus development group comprising experts in epidemiology,infectious diseases,respiratory medicine,and methodology aims to develop the current consensus to address clinical issues of RsV infections in *** sources The evidence searches and reviews were conducted using electronic databases,including PubMed,Embase,Web of science,and the Cochrane Library,using variations in terms for"respiratory syncytial virus","RsV","lower respiratory tract infection","bronchiolitis","acute","viral pneumonia","neonatal","infant""children",and"pediatric".Results Evidence-based recommendations regarding diagnosis,treatment,and prevention were proposed with a high degree of *** supportive care remains the cornerstone for the management of RsV infections,new monoclonal antibodies,vaccines,drug therapies,and viral surveillance techniques are being rolled *** This consensus,based on international and national scientific evidence,reinforces the current recommendations and integrates the recent advances for optimal care and prevention of RsV *** improvements in the management of RsV infections will require generating the highest quality of evidence through rigorously designed studies that possess little bias and sufficient capacity to identify clinically meaningful end points.

关键词： Consensus prevention Respiratory syncytial virus Treatment

spotlight on eltrombopag concentration in pediatric immune thrombocytopenia:A single-center observational study in China

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Pediatric Investigation 2024年第1期8卷 44-52页

作者： shuyue Dong Zhifa Wang Nan Wang Jingyao Ma Jinxi Meng Yixin sun Xiaoling Cheng Runhui Wu Hematology Oncology Center Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pharmacy Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance: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 *** appropriate eltrombopag concentration in ITP has not been ***:This study aims to explore the appropriate eltrombopag concentration in pediatric ***:This was a single-center,prospective cohort *** diagnosed with refractory persistent/chronic ITP and platelet counteltrombopag and followed up for at least 2 *** was detected by high-performance liquid chromatography-mass spectrometry at least 2 weeks after *** clinical characteristics-concentration,concentration-response,and concentration-ADRs were ***:A total of 30 patients were enrolled,comprising 13 males and 17 females,with a median age of 72(45-94)*** median dose and concentration were 1.39(1.09-1.56)mg/kg and 2.70(2.25-4.13)mg/L,*** the enrolled patients,14 responded to treatment,whereas 16 did ***,five experienced adverse drug *** linear correlation was observed between eltrombopag concentration and clinical *** concentration was lower in the response group than in the nonresponse group,but there was no significant difference(t=0.755,P=0.457).Patients who experienced ADRs had a higher concentration than those without ADRs(t=2.538,P=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 ***:eltrombopag proves efficacious and well-tolerated for treating pediatric ***,prolonged and high-dose administration may increase the likelihood of ***,examining

关键词： Concentration Efficacy eltrombopag Immune thrombocytopenia Pedi-atrics safety