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Multisystem smooth muscle dysfunction syndrome in a Chinese girl:A case report and review of the literature

World Journal of Clinical Cases 2019年第24期7卷 4355-4365页

作者： sai-Nan Chen Yu-Qing Wang Chuang-Li Hao Yan-Hong Lu Wu-Jun Jiang Chun-Yan Gao Min Wu Department of Respiratory Medicine Children’s Hospital of Soochow University

BACKGROUND Multisystemic smooth muscle dysfunction syndrome(MsMDs) is a rare genetic disease worldwide. The main mutation is the actin alpha 2(ACTA2) gene p.R179 H. In this paper, we report a Chinese MsMDs patient and systematically review the previous literature.CAsE sUMMARY Here, we report a 9.6-month-old Chinese girl who was diagnosed with MsMDs based on her history and symptoms, such as recurrent cough, wheezing, and complications with congenital fixed dilated pupils. Chest high-resolution computed tomography revealed inhomogeneous lung transparency, obvious exudative lesions, and some lung fissures that were markedly thickened. Cranial magnetic resonance imaging excluded bleeding and infarction but showed abnormal signals in the centrum ovale majus and bilateral periventricular regions. Echocardiography only showed patent foramen ovale, and no patent ductus arteriosus, pulmonary artery dilatation, or pulmonary hypertension was found. Bronchoscopy indicated moderate bronchial malacia. These examinations in conjunction with the typical eye abnormality suggested a diagnosis of MsMDs, and sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536 G>A, p.R179 H. However, her parents' gene analyses were normal.CONCLUsION MsMDs is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p.R179 H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus.During the process of diagnosis and treatment, clinicians should be on high alert for cerebrovascular, cardiovascular, and pulmonary complications.

关键词： Multisystem smooth muscle dysfunction syndrome Gene mutation Congenital mydriasis Patent ductus arteriosus Case report

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Child with Wiskott–Aldrich syndrome underwent atypical immune reconstruction after umbilical cord blood transplantation: A case report

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World Journal of Clinical Cases 2019年第21期7卷 3622-3631页

作者： Bo-Han Li shao-Yan Hu Department of Hematology and Oncology Children’s Hospital of Soochow University

BACKGROUND Timely reconstitution of a donor-derived immune system is important for recovery and long-term survival of patients after allogeneic hematopoietic stem cell transplantation(HsCT).We describe a case of Wiskott–Aldrich syndrome(WAs)treated by umbilical cord blood transplantation(UCBT)with atypical immune reconstruction.CAsE sUMMARY A 1-year-old Chinese male infant was diagnosed with WAs.WAs gene sequencing identified the mutation c.777+1G>A(IVs8).On August 8,2017,he was admitted to our hospital for HsCT.We selected an unrelated Human leukocyte antigen 6/10-matched donor for UCBT.After HsCT,the immune reconstitution process was atypical,the lymphocytes reached 0.5×109/L on day 23,and the neutrophils reached 0.5×109/L on day 34.The patient’s recovery throughout the year was good.CONCLUsION An increase in lymphocytes(especially T cells)earlier than granulocytes may be a marker of a good prognosis in UCBT.

关键词： Umbilical cord blood transplantation Wiskott-Aldrich syndrome Immune reconstruction Case report

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super-enhancer-associated TTC8 alters the nucleocytoplasmic distribution of PHOX2B and activates MAPK signaling in neuroblastoma

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Genes & Diseases 2023年第4期10卷 1210-1213页

作者： Ran Zhuo Zimu Zhang Xinyi Guo Haibo Cao Yanling Chen Yanfang Tao Randong Yang Xiaolu Li Jian Pan Jian Wang Institute of Pediatric Research Children’s Hospital of Soochow UniversitySuzhouJiangsu 215003China Department of Pediatric surgery Children’s Hospital of Soochow UniversitySuzhouJiangsu 215025China Medical College of soochow university SuzhouJiangsu 215123China Department of Pediatrics The Affiliated Hospital of Yangzhou UniversityYangzhouJiangsu 225000China school of Basic Medicine and Biological sciences Soochow UniversitySuzhouJiangsu 215003China

super-enhancers are regions of the mammalian genome comprising multiple enhancers in close proximity and often enriched at cancer genes.^(1)Recent studies suggest the emerging roles of super-enhancer-associated genes in un-derlying the cell identity of neuroblastoma(NB)2 which rises from neural crest-derived cells and is one of the most common malignant solid tumors in children.

关键词： neuroblastoma distribution enriched

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Neuroprotective effects of autophagy inhibition on hippocampal glutamate receptor subunits after hypoxia-ischemia-induced brain damage in newborn rats

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Neural Regeneration Research 2017年第3期12卷 417-424页

作者： Li-xiao Xu Xiao-juan Tang Yuan-yuan Yang Mei Li Mei-fang Jin Po Miao Xin Ding Ying Wang Yan-hong Li Bin sun Xing Feng Institute of Pediatric Research Affiliated Children's Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina Department of Neonatology Affiliated Children's Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina

Autophagy has been suggested to participate in the pathology of hypoxic-ischemic brain damage（HIBD）.However,its regulatory role in HIBD remains unclear and was thus examined here using a rat model.To induce HIBD,the left common carotid artery was ligated in neonatal rats,and the rats were subjected to hypoxia for 2 hours.some of these rats were intraperitoneally pretreated with the autophagy inhibitor 3-methyladenine（10 m M in 10 μL） or the autophagy stimulator rapamycin（1 g/kg） 1 hour before artery ligation.Our findings demonstrated that hypoxia-ischemia-induced hippocampal injury in neonatal rats was accompanied by increased expression levels of the autophagy-related proteins light chain 3 and Beclin-1 as well as of the AMPA receptor subunit GluR 1,but by reduced expression of GluR 2.Pretreatment with the autophagy inhibitor 3-methyladenine blocked hypoxia-ischemia-induced hippocampal injury,whereas pretreatment with the autophagy stimulator rapamycin significantly augmented hippocampal injury.Additionally,3-methyladenine pretreatment blocked the hypoxia-ischemia-induced upregulation of Glu R1 and downregulation of GluR2 in the hippocampus.By contrast,rapamycin further elevated hippocampal Glu R1 levels and exacerbated decreased GluR2 expression levels in neonates with HIBD.Our results indicate that autophagy inhibition favors the prevention of HIBD in neonatal rats,at least in part,through normalizing Glu R1 and GluR2 expression.

关键词： nerve regeneration hypoxic-ischemic brain damage hypoxia ischemia α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate receptor subunit GluR hippocampus rapamycin 3-methyladenine neural regeneration

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Three new triterpenoids isolated from the aerial parts of Ilex cornuta and protective effects against H2O2-induced myocardial cell injury

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Chinese Journal of Natural Medicines 2017年第2期15卷 115-120页

作者： LI shan-shan LIU Yan-Li XU Qiong-Ming MAO Chen-Mei YANG shi-Lin children's hospital of soochow university Suzhou 215003China College of Pharmaceutical sciences Soochow UniversitySuzhou 215123China

In the present study, three new triterpenoids, 23-hydroxyurs-12, 18-dien-28-oic acid 3β-O-α-L-arabinopyranoside(1), 23-hydroxyurs-12, 18-dien-28-oic acid 3β-O-β-D-glucuronopyranoside-6-O-methyl ester(2), and urs-12, 18-dien-28-oic acid 3β-O-β-D-glucuronopyranoside-6-O-methyl ester(3), and a known triterpenoid, 3β-hydroxy-urs-2, 18-dien-28-oic acid(4, randialic acid B), were isolated from the aerial parts of Ilex cornuta. Their structures were identified by the spectroscopic analyses(IR, EsI-Ms, HR-EsI-Ms, and 1D and 2D NMR) and chemical reactions. Compound 4 showed significant cell-protective effects against H_2O_2-induced H9c2 cardiomyocyte injury. Compounds 1-4 did not show any significant DPPH radical scavenging activity.

关键词： Ilex cornuta Aquifoliaceae Triterpenoids Cardiomyocytes Oxidative injury

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The comparison of sereve OsAHs and mild-moderate OsAHs and analysis of risk factors

The comparison of sereve OSAHS and mild-moderate OSAHS and a...

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中国睡眠研究会第十五届全国学术年会

作者： Meng Lv Yuqing Wang Children’s Hospital of Soochow University

Objective: To explore risk factors for severe obstructive sleep apnoea hypopnea syndrome(OsAHs) in children.Methods: A retrospective analysis was performed using medical data from children who were diagnosed with severe OsAHs and who underwent polysomnography(PsG) in the Children’s Hospital of Soochow University.children with mild-moderate OsAHs were enrolled as the control group, and the risk factors were identified and analysed.Results: A total of 142 patients were enrolled, including 104 patients in the mild-moderate OsAHs group and 38 patients in the severe OsAHs group.There were differences in age, tonsillar hypertrophy, adenoidal hypertrophy between the two groups.The severe OsAHs group had higher ODI4, ODI3, T92, and T90 values, higher maximum apnoea durations, and lower LspO2 values than the mild-moderate group.Logistic regression analysis showed that age, tonsillar hypertrophy, and the longest duration of apnoea were risk factors for severe OsAHs(OR=1.336, 95% CI: 1.061～1.683, P = 0.014;OR=13.808, 95% CI: 2.937～64.913, P = 0.001;and OR=1.179, 95% CI: 1.090～1.276, P = 0.000, respectively).Conclusion: Tonsillar hypertrophy and the longest duration of apnoea were risk factors for severe OsAHs, indicating that these factors have certain clinical significance for the identification of patients with severe OsAHs.

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Association between seasonal factors and severity of obstructive sleep apnea-hypopnea syndrome in children

Association between seasonal factors and severity of obstruc...

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中国睡眠研究会第十五届全国学术年会

作者： Xueyun Xu Children’s Hospital of Soochow University

Background: Limited data are available on the relationship between seasonal factors and obstructive sleep apneahypopnea syndrome(OsAHs) in China.The aim of this study was to investigate the effects of seasonal factors on the severity of OsAHs in children.Methods: children 2.0–16 years old presenting with snoring and/or mouth breathing, suspected of having OsAHs, and admitted to the Department of Respiratory Medicine of ******from December 2016 to February 2022 were enrolled in this study.The severity of OsAHs was determined by full-night polysomnography(PsG) in the sleep laboratory.The correlation between seasonal factors and PsG monitoring results was analyzed.Results: Of the 589 included patients, 301 cases(51.1%) were diagnosed with OsAHs.In OsAHs group, 77 cases(25.6%) were detected in spring, 74 cases(24.6%) were detected in summer, 59 cases(19.6%) were detected in autumn, and 91 cases(30.2%) were detected in winter.There were 238 cases(79.1%) of tonsillitis hypertrophy, 276 cases(91.7%) of adenoid hypertrophy, 215 cases(71.4%) of rhinitis/sinusitis, and 36 cases(12.0%) of asthma.The proportion of rhinitis/sinusitis and tonsillar hypertrophy in spring was higher than that in summer(P = 0.015 and 0.036, respectively), and the proportion of adenoid hypertrophy in winter was higher than that in summer(P = 0.024).The diagnostic rate of severe OsAHs in winter was higher than that in summer(c2 = 7.053, P = 0.008).The respiratory arousal index in winter was higher than that in summer(H =-39.297, P = 0.018), and the spontaneous arousal index in spring was higher than that in autumn(H = 44.059, P = 0.020).It was found that the rapid eye movement(REM)-apnea index(AI) in spring and winter was higher than that in summer(H = 52.292,-52.554;all P son of PsG results of children with OsAHs≤6years old in different seasons showed that REMAI in winter was higher than that in summer((H = 8.570,<0.05).

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Association between new onset type 1 diabetes and real-world antibiotics and neonicotinoids’exposure-related gut microbiota perturbation

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World Journal of Pediatrics 2022年第10期18卷 671-679页

作者： Zhen-Ran Xu Xiao-Xiao Yuan Rui-Min Chen Hai-Yan Wei Lin-Qi Chen Hong-Wei Du Gui-Mei Li Yu Yang Xiao-Juan Chen Xin Fang Fei-Hong Luo Department of Pediatric Endocrinology and Inherited Metabolic Diseases National Children’s Medical CenterChildren’s Hospital of Fudan University399 Wan Yuan RoadShanghai201102China Fuzhou children’s Hospitai of Fujian Medical university FuzhouChina Department of Endocrinology and Inherited Metabolic Children’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalZhengzhouChina Children’s Hospital of Soochow University SuzhouChina The First hospital of Jilin university ChangchunJilinChina Department of Pediatric Endocrinology Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinanChina The Affiliated children’s hospital of Nanchang university NanchangChina Department of Endocrinology Genetics and MetabolismThe Children’s Hospital of Shanxi ProvinceTaiyuanChina Fujian Medical university Union hospital FuzhouChina

Background The real-world exposure levels of non-therapeutic antibiotics and neonicotinoids in type 1 diabetes(T1D)children and their associations as environmental triggers through gut microbiota shifts remained unknown.We thus investigated the antibiotics and neonicotinoids’exposure levels and their associations with gut microbiota in pediatric T1D.Methods Fifty-one newly onset T1D children along with 67 age-matched healthy controls were recruited.Urine concentrations of 28 antibiotics and 12 neonicotinoids were measured by mass spectrometry.children were grouped according to the kinds of antibiotics’and neonicotinoids’exposures,respectively.The 16s rRNA of fecal gut microbiota was sequenced,and the correlation with urine antibiotics and neonicotinoids’concentrations was analyzed.Results The overall detection rates of antibiotics were 72.5%and 61.2%among T1D and healthy children,whereas the neonicotinoids detection rates were 70.6%and 52.2%(P=0.044).children exposed to one kind of antibiotic or two or more kinds of neonicotinoids had higher risk of T1D,with the odd ratios of 2.579 and 3.911.Furthermore,co-exposure to antibiotics and neonicotinoids was associated with T1D,with the odd ratio of 4.924.Antibiotics or neonicotinoids exposure did not affect overall richness and diversity of gut microbiota.However,children who were exposed to neither antibiotics nor neonicotinoids had higher abundance of Lachnospiraceae than children who were exposed to antibiotics and neonicotinoids alone or together.Conclusion High antibiotics and neonicotinoids exposures were found in T1D children,and they were associated with changes in gut microbiota featured with lower abundance of butyrate-producing genera,which might increase the risk of T1D.

关键词： Antibiotics Gut microbiota Neonicotinoids Type 1 diabetes mellitus

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The role of pineal microRNA-325 in regulating circadian rhythms after neonatal hypoxic-ischemic brain damage

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Neural Regeneration Research 2021年第10期16卷 2071-2077页

作者： Ning sha Hua-Wei Wang Bin sun Min Gong Po Miao Xiao-Lu Jiang Xiao-Feng Yang Mei Li Li-Xiao Xu Chen-Xi Feng Yuan-Yuan Yang Jie Zhang Wen-Jing Zhu Yuan-Yuan Gao Xing Feng Xin Ding soochow Key Laboratory of Prevention and Treatment of Child Brain injury Children’s Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina Department of Pediatrics Affiliated Huai’an Hospital of Xuzhou Medical UniversityHuai’anJiangsu ProvinceChina Pediatrics Research Institute Children’s Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina Department of Pediatrics The First Affiliated Hospital of Soochow University(Dushuhu Branch)SuzhouJiangsu ProvinceChina Cambridge-sU Genomic Resource Center Soochow UniversitySuzhouJiangsu ProvinceChina Clinical Laboratory Children’s Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina

Circadian rhythm disorder is a common,but often neglected,consequence of neonatal hypoxic-ischemic brain damage(HIBD).However,the underlying molecular mechanisms remain largely unknown.We previously showed that,in a rat model of HIBD,up-regulation of microRNA-325(miR-325)in the pineal gland is responsible for the suppression of Aanat,a key enzyme involved in melatonin synthesis and circadian rhythm regulation.To better understand the mechanism by which miR-325 affects circadian rhythms in neonates with HIBD,we compared clinical samples from neonates with HIBD and samples from healthy neonates recruited from the First Affiliated hospital of soochow university(Dushuhu Branch)in 2019.We found that circulating miR-325 levels correlated positively with the severity of sleep and circadian rhythm disorders in neonates with HIBD.Furthermore,a luciferase reporter gene assay revealed that LIM homeobox 3(LHX3)is a novel downstream target of miR-325.In addition,in miR-325 knock-down mice,the transcription factor LHX3 exhibited an miR-325-dependent circadian pattern of expression in the pineal gland.We established a neonatal mouse model of HIBD by performing doublelayer ligation of the left common carotid artery and exposing the pups to a low-oxygen environment for 2 hours.Lhx3 mRNA expression was significantly down-regulated in these mice and partially rescued in miR-325 knockout mice subjected to the same conditions.Finally,we showed that improvement in circadian rhythm-related behaviors in animals with HIBD was dependent on both miR-325 and LHX3.Taken together,our findings suggest that the miR-325-LHX3 axis is responsible for regulating circadian rhythms and provide novel insights into the identification of potential therapeutic targets for circadian rhythm disorders in patients with neonatal HIBD.The clinical trial was approved by Institutional Review Board of Children’s Hospital of Soochow University(approval No.2015028)on July 20,2015.Animal experiments were approved by Animal Care and Use Committee,school of Medicine,s

关键词： brain injury circadian rhythm hypoxic-ischemic brain damage miRNA neonate pineal gland sleep transcription factor

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TP53-induced glycolysis and apoptosis regulator alleviates hypoxia/ischemia-induced microglial pyroptosis and ischemic brain damage

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Neural Regeneration Research 2021年第6期16卷 1037-1043页

作者： Lan-Lan Tan Xiao-Lu Jiang Li-Xiao Xu Gen Li Chen-Xi Feng Xin Ding Bin sun Zheng-Hong Qin Zu-Bin Zhang Xing Feng Mei Li Department of Neonatology Children’s Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina Department of Pediatrics Research Institute Children’s Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina Jiangsu Key Laboratory of Neuropsychiatric Diseases Department of PharmacologyCollege of Pharmaceutical SciencesSoochow UniversitySuzhouJiangsu ProvinceChina

Our previous studies have demonstrated that TP53-induced glycolysis and apoptosis regulator(TIGAR)can protect neurons after cerebral ischemia/reperfusion.However,the role of TIGAR in neonatal hypoxic-ischemic brain damage(HIBD)remains unknown.In the present study,7-day-old sprague-Dawley rat models of HIBD were established by permanent occlusion of the left common carotid artery followed by 2-hour hypoxia.At 6 days before induction of HIBD,a lentiviral vector containing short hairpin RNA of either TIGAR or gasdermin D(LV-sh_TIGAR or LV-sh_GsDMD)was injected into the left lateral ventricle and striatum.Highly aggressively proliferating immortalized(HAPI)microglial cell models of in vitro HIBD were established by 2-hour oxygen/glucose deprivation followed by 24-hour reoxygenation.Three days before in vitro HIBD induction,HAPI microglial cells were transfected with LV-sh_TIGAR or LV-sh_GsDMD.Our results showed that TIGAR expression was increased in the neonatal rat cortex after HIBD and in HAPI microglial cells after oxygen/glucose deprivation/reoxygenation.Lentivirusmediated TIGAR knockdown in rats markedly worsened pyroptosis and brain damage after hypoxia/ischemia in vivo and in vitro.Application of exogenous nicotinamide adenine dinucleotide phosphate(NADPH)increased the NADPH level and the glutathione/oxidized glutathione ratio and decreased reactive oxygen species levels in HAPI microglial cells after oxygen/glucose deprivation/reoxygenation.Additionally,exogenous NADPH blocked the effects of TIGAR knockdown in neonatal HIBD in vivo and in vitro.These findings show that TIGAR can inhibit microglial pyroptosis and play a protective role in neonatal HIBD.The study was approved by the Animal Ethics Committee of soochow university of China(approval No.2017LW003)in 2017.

关键词： hypoxic-ischemic brain damage in vitro in vivo microglia NADPH pyroptosis ROs TIGAR

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