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World Journal of Clinical Cases 2024年第9期12卷 1660-1668页

作者： Yuan-Yuan Chen Xiang-Zhi Xu Xiao-Jun Xu Division/Center of Pediatric Hematology Oncology Children’s HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina Pediatric Intensive Care Unit Children’s Hospital of Zhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

BACKGROUND secondary hemophagocytic lymphohistiocytosis(sHLH)triggered by salmonella enterica serovar Typhimurium is rare in pediatric *** is no consensus on how to treat ***-triggered *** sUMMARY A 9-year-old boy with intermittent fever for 3 d presented to our hospital with positive results for ***,human rhinovirus,and Mycoplasma pneumoniae *** the time of admission to our institution,the patient’s T helper 1/T helper 2 cytokine levels were 326 pg/mL for interleukin 6(IL-6),9.1 pg/mL for IL-10,and 246.7 pg/mL for interferon-gamma(IFN-γ),for which the ratio of IL-10 to IFN-γwas *** this study,the patient received meropenem,linezolid,and cefoperazone/sulbactam in combination with high-dose methylprednisolone therapy(10 mg/kg/d for 3 d)and antishock supportive treatment *** careful evaluation,this patient did not receive HLH chemotherapy and recovered *** *** infection-triggered sHLH patient had a ratio of IL-10 to IFN-γ≤1.33,an IL-10 concentration≤10.0 pg/mL,and/or an IFN-γconcentration≤225 pg/mL at *** antimicrobial and supportive treatment was sufficient,and the HLH-94/2004 protocol was not necessary under these conditions.

关键词： Hemophagocytic lymphohistiocytosis Cytokine pattern Interferon gamma Interleukin-10 salmonella enterica serovar Typhimurium Case report

PICOTEEs:a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts

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Journal of Genetics and Genomics 2024年第2期51卷 243-251页

作者： Xinran Dong Yulan Lu Lanting Guo Chuan Li Qi Ni Bingbing Wu Huijun Wang Lin Yang songyang Wu Qi sun Hao Zheng Wenhao Zhou shuang Wang Center for Molecular Medicine Children's Hospital of Fudan UniversityShanghai 201102China Key Laboratory of Birth Defects Children's Hospital of Fudan UniversityShanghai 201102China Department of Bioinformatics Hangzhou Nuowei Information Technology Co.LtdHangzhouZhejiang 310000China The Third Research Institute of the Ministry of Public security Shanghai 200031China Xiamen Campus of children's Hospital of Fudan University XiamenFujian 361006China Institutes for systems Genetics West China HospitalChengduSichuan 610041China shanghai Putuo People's Hospital Tongji UniversityShanghai 200060China

The growth in biomedical data resources has raised potential privacy concerns and risks of genetic information leakage. For instance, exome sequencing aids clinical decisions by comparing data through web services, but it requires significant trust between users and providers. To alleviate privacy concerns, the most commonly used strategy is to anonymize sensitive data. Unfortunately, studies have shown that anonymization is insufficient to protect against reidentification attacks. Recently, privacy-preserving technologies have been applied to preserve application utility while protecting the privacy of biomedical data. We present the PICOTEEs framework, a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants (https://***:3000/). PICOTEEs enables privacy-preserving queries of the phenotype spectrum for a single variant by utilizing trusted execution environment technology, which can protect the privacy of the user's query information, backend models, and data, as well as the final results. We demonstrate the utility and performance of PICOTEEs by exploring a bioinformatics dataset. The dataset is from a cohort containing 20,909 genetic testing patients with 3,152,508 variants from the children's Hospital of Fudan University in China, dominated by the Chinese Han population (>99.9%). Our query results yield a large number of unreported diagnostic variants and previously reported pathogenicity.

关键词： Privacy protecti on Rare diseases in children Genetic testing Web system Trusted executi on envir onment

Coinfection of sARs-CoV-2 Omicron variant and other respiratory pathogens in children

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World Journal of Pediatrics 2024年第1期20卷 92-96页

作者： Wei Li Bing-Han Wang Bao-Hai Chen Yi sun Lin Li Wen-Qing Xiang Ahmed Faisal Ali Lin-Xuan su Hai-Yan Mao Hong-Qiang shen Qiang shu Department of Clinical Laboratory Children's HospitalNational Clinical Research Center for Child HealthZhejiang University School of MedicineHangzhouChina school of Public Health Zhejiang University School of MedicineHangzhouChina Department of Information Center Children's HospitalZhejiang University School of MedicineHangzhouChina Zhejiang Provincial Center for Disease Control and Prevention HangzhouChina Department of Thoracic&Cardiovascular surgery Children's HospitalNational Clinical Research Center for Child HealthZhejiang University School of MedicineHangzhouChina

since the outbreak of coronavirus disease 2019(COVID-19),the entire world has been affected by the epidemic[1,2].On November 9,2021,a variant of the novel coronavirus B.1.1.529 was detected for the first time from case samples in south *** Omicron strain spread and mutated significantly *** variant has the characteristics of escape immunity,which can induce relatively extreme disease and reduce the neutralization of antibodies in vaccinators,and is more likely to be reinfected[3,4].The clinical presentation of severe acute respiratory syndrome coronavirus 2(sARsCoV-2)in children has mild symptoms and a lower risk of hospitalization and death.

关键词： respiratory immunity acute

Long noncoding nuclear enriched abundant transcript 1_2 is a promising biomarker for childhood-onset systemic lupus erythematosus

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Pediatric Investigation 2024年第2期8卷 101-107页

作者： shipeng Li Xia Wang Xiaozhen Zhao Jianghong Deng Weiying Kuang Junmei Zhang Xiaohua Tan Chao Li Caifeng Li Department of Rheumatology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Center for Infectious Diseases Beijing Youan HospitalCapital Medical UniversityBeijing Key Laboratory for HIV/AIDS ResearchBeijingChina

Importance:systemic lupus erythematosus(sLE)is a diffuse connective tissue disease with complex clinical manifestations and prolonged *** early diagnosis and condition monitoring of sLE are crucial to disease ***:To assess the diagnostic value of long noncoding RNA(lncRNA)nuclear enriched abundant transcript 1(NEAT1)in childhood-onset sLE(csLE).Methods:Fifty-seven children diagnosed with sLE,40 children diagnosed with juvenile idiopathic arthritis(JIA),and 40 healthy children were *** blood samples from each patient were collected.A quantitative polymerase chain reaction was used to confirm the expression of lncNEAT1_1 and lncNEAT1_2 in peripheral *** among parameters were analyzed using the Mann-Whitney U test or independent sample ***:The expression of both lncNEAT1_1 and lncNEAT1_2 in patients with csLE were significantly higher than that of healthy control and patients with *** operating characteristic curves revealed an area under the curve(AUC)of 0.633(95%confidence interval[CI],0.524-0.742;P=0.024)for lncNEAT1_*** AUC of lncNEAT1_2 was 0.812(95%CI,0.727-0.897;Pscriminate individuals with csLE from health control and children with JIA with a sensitivity of 0.622 and a specificity of ***,lncNEAT1_2 expression was higher in patients with csLE presenting with fever,lupus nephritis,elevated erythrocyte sedimentation rate,active disease activity,and decreased C3 level,compared with those without these ***,no similar correlation was observed for lncNEAT1_***:The expression of lncNEAT1_2 was significantly elevated in children with sLE,especially those with fever,renal involvement,and low C3 *** findings suggest that lncNEAT1_2 may represent a potential biomarker for csLE.

关键词： Biomarker children LncRNA sLE NEAT1

Association between balloon atrial septostomy and prostaglandin E1 therapy until repair of transposition of the great arteries in neonates

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Pediatric Investigation 2024年第2期8卷 135-138页

作者： samantha Gilg sebastian Acosta Rohit s.Loomba Claire Rizk Gary E.stapleton David Faraoni Fabio savorgnan Department of Pediatrics Divisions of Critical Care Medicine and CardiologyTexas Children’s Hospital and Baylor College of MedicineHoustonTexasUSA Department of Pediatrics Division of CardiologyTexas Children’s Hospital and Baylor College of MedicineHoustonTexasUSA Department of Pediatrics The Heart InstituteAdvocate Children’s HospitalChicago Medical School and Rosalind Franklin University of Medicine and ScienceOak LawnIllinoisUSA Department of Anesthesiology Arthur S.Keats Division of Pediatric Cardiovascular AnesthesiaPerioperative and Pain MedicineTexas Children’s HospitalBaylor College of MedicineHoustonTexasUSA

The standard of care in the management of d-transposition of the great arteries(TGA)includes the arterial switch operation(AsO).1,2 Although some institutions have begun to publish the results of performing the AsO within the first few hours of life,most centers continue to"electively"delay AsO for several days to allow for a reduction in pulmonary vascular resistance and the stabilization of renal and liver function.1,2 The early initiation of prostaglandin E1(PGE)infusion to maintain ductal patency is a nearly universal component of therapy in order to maintain adequate arterial oxygen saturation and systemic oxygen delivery during the pre-operative period via intercirculatory mixing at the atrial septal and patent ductus arteriosus levels1,3.

关键词： balloon maintain stabilization

Diagnostic significance of serum levels of serum amyloid A,procalcitonin,and high-mobility group box 1 in identifying necrotising enterocolitis in newborns

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World Journal of Gastrointestinal surgery 2024年第7期16卷 2003-2011页

作者： Li-Ming Guo Zhi-Hui Jiang Hong-Zhen Liu Lei Zhang Department of General surgery Qingdao Women and Children’s HospitalQingdao 266000Shandong ProvinceChina Department of Pediatric surgery Children's Hospital Affiliated to Shandong UniversityJinan 250022Shandong ProvinceChina Department of Pediatric surgery Jinan Children's HospitalJinan 250022Shandong ProvinceChina Department of Pediatric surgery Qilu Hospital of Shandong University(Qingdao)Qingdao 260010Shandong ProvinceChina

BACKGROUND Necrotising enterocolitis(NEC)is a critical gastrointestinal emergency affecting premature and low-birth-weight *** amyloid A(sAA),procalcitonin(PCT),and high-mobility group box 1(HMGB1)have emerged as potential biomarkers for NEC due to their roles in inflammatory response,tissue damage,and immune *** To evaluate the diagnostic value of sAA,PCT,and HMGB1 in the context of NEC in *** The study retrospectively analysed the clinical data of 48 newborns diagnosed with NEC and 50 healthy newborns admitted to the ***,radiological,and laboratory findings,including serum sAA,PCT,and HMGB1 Levels,were collected,and specific detection methods were *** diagnostic value of the biomarkers was evaluated through statistical analysis,which was performed using chi-square test,t-test,correlation analysis,and receiver operating characteristic(ROC)*** The study demonstrated significantly elevated levels of serum sAA,PCT,and HMGB1 Levels in newborns diagnosed with NEC compared with healthy *** correlation analysis indicated strong positive correlations among serum sAA,PCT,and HMGB1 Levels and the presence of *** analysis revealed promising sensitivity and specificity for serum sAA,PCT,and HMGB1 Levels as potential diagnostic *** combined model of the three biomarkers demonstrating an extremely high area under the curve(0.908).CONCLUsION The diagnostic value of serum sAA,PCT,and HMGB1 Levels in NEC was *** biomarkers potentially improve the early detection,risk stratification,and clinical management of critical *** findings suggest that these biomarkers may aid in timely intervention and the enhancement of outcomes for neonates affected by NEC.

关键词： serum amyloid A Procalcitonin High-mobility group box 1 Necrotising enterocolitis in newborns serum biomarkers

Aberrant LETM1 elevation dysregulates mitochondrial functions and energy metabolism and promotes lung metastasis in osteosarcoma

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Genes & Diseases 2024年第3期11卷 368-384页

作者： Yulu shi Quan Kang Hong Zhou Xiaohan Yue Yang Bi Qing Luo stem Cell Biology and Therapy Laboratory The Children's Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqing Key Laboratory of PediatricsChongqing 400014China Department of Pediatric surgery The Children's Hospital of Chongqing Medical UniversityChongqing 400014China

Osteosarcoma is a differentiation-deficient disease,and despite the unique advan-tages and great potential of differentiation therapy,there are only a few known differentia-tion inducers,and little research has been done on their *** differentiation is associated with an increase in mitochondrial content and *** metabolism of some tu-mor cells is characterized by impaired oxidative phosphorylation,as well as up-regulation of aerobic glycolysis and pentose phosphate ***-containing zipper and EF-hand transmembrane protein 1(LETM1)is involved in the maintenance of mitochondrial morphology and is closely associated with tumorigenesis and progression,as well as cancer cell *** found that MG63 and 143B osteosarcoma cells overexpress LETM1 and exhibit abnormalities in mitochondrial structure and *** of LETM1 partially restored the mitochon-drial structure and function,inhibited the pentose phosphate pathway,promoted oxidative phosphorylation,and led to osteogenic *** also inhibited spheroid cell forma-tion,proliferation,migration,and invasion in an in vitro *** LETM1 was knocked down in vivo,there was reduced tumor formation and lung *** data suggest that mitochondria are aberrant in LETM1-overexpressing osteosarcoma cells,and knockdown of LETM1 partially restores the mitochondrial structure and function,inhibits the pentose phosphate pathway,promotes oxidative phosphorylation,and increases osteogenic differentiation,thereby reducing malignant biological behavior of the cells.

关键词： Cancer metabolism Differentiation LETM1 Osteosarcoma stemness

surgical Repair of Ventricular septal Defect in Neonates: Indications and Outcomes

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Congenital Heart Disease 2024年第1期19卷 69-83页

作者： Jae Hong Lee sungkyu Cho Jae Gun Kwak Hye Won Kwon Woong-Han Kim Mi Kyoung song sang-Yun Lee Gi Beom Kim Eun Jung Bae Department of Thoracic and Cardiovascular surgery Research Institute for Convergence of Biomedical Science and TechnologyPusan National University Yangsan HospitalYangsanKorea Department of Thoracic and Cardiovascular surgery Seoul National University Children’s HospitalSeoulKorea Department of Pediatrics Seoul National University Children’s HospitalSeoulKorea

Background:The optimal surgical timing and clinical outcomes of ventricular septal defect(VsD)closure in neo-nates remain *** aimed to evaluate the clinical outcomes of VsD closure in neonates(age≤30 days).Methods:We retrospectively reviewed 50 consecutive neonates who underwent VsD closure for isolated VsDs between August 2003 and June *** for the procedure included congestive heart failure/failure to thrive and pulmonary *** adverse events(MAEs)were deﬁned as the composite of all-cause mortality,reoperation,persistent atrioventricular block,and signiﬁcant(≥grade 2)valvular ***:The median age and body weight at operation were 26.0 days(interquartile range[IQR],18.8–28.3)and 3.7 kg(IQR,3.3–4.2),*** median follow-up duration was 110.4 months(IQR,56.8–165.0).seven patients required preoperative respiratory support,andﬁve had signiﬁcant(≥grade 2)preoperative valvular *** early mortality occurred due to irreversible cardiogenic shock;no late mortality was *** reopera-tion was due to hemodynamically signiﬁcant residual VsD at 103.8 months *** overall survival,freedom from reoperation,and freedom from MAE at 15-years were 98.0%,96.3%,and 94.4%,***-operative mechanical ventilation was associated with a longer duration of postoperative mechanical ventilation(psive care unit stay(psions:VsD closure with favorable outcomes without morbidities is feasible even in ***,neonates requiring preoperative respiratory support may require careful postoperative management considering the long-term postoperative ***,surgical VsD closure might be indicated earlier in neonates with respiratory compromise.

关键词： Ventricular septal defect neonate early surgery neonatal surgery

Effect of nourishing Yin and purging fire Chinese herbal mixture on delaying light-induced premature puberty in rats

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Journal of Traditional Chinese Medicine 2024年第1期44卷 95-102页

作者： sUN Yanyan XUE Yuanyuan sUN Wen WANG Yonghong YU Jian Department of Traditional Chinese Medicine Children's Hospital of Fudan UniversityShanghai 201102China Department of Pediatrics Zibo Central HospitalZibo 255000China

OBJECTIVE:To elucidate the mechanism of the nourishing Yin and purging fire Chinese herbal mixture(NYPF)in delaying light-induced premature puberty in ***:Twenty-one days old female spragueDawley rats were randomly assigned to normal group(N),long light exposure group(L),NYPF and normal saline group(Ns).Rats in the L,NYPF and Ns groups were exposed to 16 h:350 lux light/8 h:dark,while rats in the N group were exposed to 12 h:50 lux light/12 h:*** and normal saline was administered to the rats in the NYPF group or Ns group,respectively,from day *** rats in every group were sacrificed at 9 *** day 28(P28),on the day when rat's vulva opened in the L group(L-VO),on the day when the first estrous interphase occurred in rats of L group(L-E1),and on the day when the second estrous interphase occurred in rats of L group(L-E2),***:On day 34,all rats in the L group,80%of rats in the Ns group,40%of rats in the N group,and 20%of rats in the NYPF group showed complete opening of the *** P28,m RNA level of hypothalamic kisspeptin(Kiss-1)in the L group was significantly higher than that in the N group(Ps in the L and Ns groups had significantly lower hypothalamic argininephenylalanine-amide(RFamide)-related peptide 3(RFRP-3)m RNA levels than those in the N group(Ps RFRP-3 m RNA level was significantly higher in the NYPF group than that in the L group(Ps groups was significantly higher than that of the N group(Pstradiol(E2)level of the NYPF group was significantly lower than that of the N and Ns groups(Pss-1 m RNA level in the L and Ns groups was significantly higher than that in the N and NYPF groups(Ps hypothalamic RFRP-3 m RNA level in the L,NYPF,and Ns groups was significantly lower than that in the N group(Ps groups was significantly higher than that of the N group(P<0.01),wher

关键词： light puberty precocious kisspeptins RFRP-3 melatonin Nourishing Yin and Purging Fire

Mitochondria replacement from transplanted amniotic fluid stem cells:a promising therapy for non-neuronal defects in spinal muscular atrophy

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Neural Regeneration Research 2024年第5期19卷 971-972页

作者： Michela Pozzobon Camilla Bean Women’s and children’s Health Department University of Padova Foundation Institute of Pediatric Research Cittàdella speranza PadovaItaly Department of Medicine University of UdineUdineItaly

spinal muscular atrophy(sMA)is a genetic disorder that primarily affects infants and leads to muscle weakness,atrophy,and *** main cause is the homozygous mutation or deletion of the sMN1 gene,resulting in inadequate levels of the survival motor neuron(sMN)*** treatments focus on restoring sMN levels through various approaches,but there is a need for“sMN-independent”therapies that target other pathological *** muscle is closely involved in sMA pathology,with impaired muscle function observed before motor neuron *** have revealed that sMN loss leads to skeletal muscle mitochondrial structural abnormalities,impaired respiration,and accumulation of reactive oxygen species.

关键词： impaired atrophy muscular