1.Value of endoscopic retrograde cholangiopancreatography for the diagnosis and treatment of pediatric pancreaticobiliary maljunction
Shuang NIE ; Hao ZHU ; Shanshan SHEN ; Wen LI ; Wei CAI ; Zhengyan QIN ; Feng LIU ; Bin ZHANG ; Yuling YAO ; Lei WANG ; Xiaoping ZOU
Chinese Journal of Digestive Endoscopy 2024;41(2):137-141
Objective:To investigate the safety and effectiveness of endoscopic retrograde cholangiopancreatography (ERCP) for the diagnosis and treatment of pediatric pancreaticobiliary maljunction (PBM).Methods:Data of 40 pediatric patients under 14 with PBM diagnosed and treated by ERCP at Department of Gastroenterology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School from November 2012 to September 2022 were collected. PBM types, ERCP-related diagnosis and treatment, adverse events and prognosis were retrospectively analyzed.Results:Nineteen cases were P-B type (joining of common bile duct with pancreatic duct), 17 were B-P type (joining of pancreatic duct with common bile duct), and 4 were complex type. Forty children with PBM underwent 50 ERCP-related operations, among which 48 procedures succeeded. One case failed during cannulation of ERCP, replaced by rendezvous-assisted endoscopic retrograde pancreatography (RV-ERP) afterwards. There were no serious postoperative adverse events such as bleeding, perforation or death. Thirty-four patients (85%) were followed up successfully, among which 14 underwent further surgery and 20 continued conservative treatment.Conclusion:ERCP is the golden standard to diagnose pediatric PBM, and it is also safe and effective treatment for PBM.
2.Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine.
Dingwen WU ; Rulai YANG ; Kexin FANG ; Chen LIU ; Jiaming TANG ; Meijun YU ; Zhengyan ZHAO
Journal of Zhejiang University. Medical sciences 2023;52(6):707-713
OBJECTIVES:
To investigate the genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine (C4).
METHODS:
One hundred and twenty neonates with increased C4 levels detected by tandem mass spectrometry in the neonatal screening at Children's Hospital, Zhejiang University School of Medicine from January 2018 to June 2023 were included. The initial screening data and recalled data of C4 and C4/C3 were collected and converted into multiples of C4 reference range. Next generation sequencing was performed and the exons with adjacent 50 bp regions of ACAD8 and ACADS genes were captured by liquid phase capture technique. Variant information was obtained by bioinformatic analysis and the pathogenicity were classified according to the American College of Medical Genetics and Genomics criteria. The Wilcoxon rank sum test was used to analyze the differences in C4 levels among neonates with different variation types.
RESULTS:
In total, 32 variants in ACAD8 gene were detected, of which 7 variants were reported for the first time; while 41 variants of ACADS gene were detected, of which 17 variants have not been previously reported. There were 39 cases with ACAD8 biallelic variations and 3 cases with ACAD8 monoallelic variations; 34 cases with ACADS biallelic variations and 36 cases with ACADS monoallelic variations. Furthermore, 5 cases were detected with both ACAD8 and ACADS gene variations. Inter group comparison showed that the multiples of C4 reference range in initial screening and re-examination of the ACAD8 biallelic variations and ACADS biallelic variations groups were significantly higher than those of the ACADS monoallelic variations group (all P<0.01), while the multiples in the ACAD8 biallelic variations group were significantly higher than those in the ACADS biallelic variations group (all P<0.01). The multiples of C4 reference range in the initial screening greater than 1.5 times were observed in all neonates carrying ACAD8 or ACADS biallelic variations, while only 25% (9/36) in neonates carrying ACADS monoallelic variations.
CONCLUSIONS
ACAD8 and/or ACADS gene variants are the main genetic causes for elevated C4 in newborns in Zhejiang region with high genotypic heterogeneity. The C4 levels of neonates with biallelic variations are significantly higher than those of neonates with monoallelic variations. The cut-off value for C4 level could be modestly elevated, which could reduce the false positive rate in tandem mass spectrometry neonatal screening.
Child
;
Humans
;
Infant, Newborn
;
Acyl-CoA Dehydrogenase/genetics*
;
Genotype
;
Phenotype
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Carnitine/metabolism*
;
Mutation
3.Diagnosis, treatment and prevention of severe acute respiratory syndrome coronavirus 2 infection in children: experts′ consensus statement (Fifth Edition)updated for the Omicron variant
Rongmeng JIANG ; Zhengde XIE ; Yi JIANG ; Xiaoxia LU ; Runming JIN ; Yuejie ZHENG ; Yunxiao SHANG ; Baoping XU ; Zhisheng LIU ; Gen LU ; Jikui DENG ; Guanghua LIU ; Xiaochuan WANG ; Jianshe WANG ; Luzhao FENG ; Wei LIU ; Yi ZHENG ; Sainan SHU ; Min LU ; Wanjun LUO ; Miao LIU ; Yuxia CUI ; Leping YE ; Adong SHEN ; Gang LIU ; Liwei GAO ; Lijuan XIONG ; Yan BAI ; Likai LIN ; Zhuang WEI ; Fengxia XUE ; Tianyou WANG ; Dongchi ZHAO ; Zhengyan ZHAO ; Jianbo SHAO ; Wong Wing-kin GARY ; Yanxia HE ; Xingwang LI ; Yonghong YANG ; Kunling SHEN
Chinese Journal of Applied Clinical Pediatrics 2023;38(1):20-30
China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.
4.Genetic analysis of neonates with abnormal isovaleryl carnitine metabolism
Dingwen WU ; Rulai YANG ; Chen LIU ; Fan TONG ; Shuai CHEN ; Zhengyan ZHAO
Chinese Journal of Applied Clinical Pediatrics 2023;38(1):49-53
Objective:To explore the genetic causes of abnormal isovaleryl carnitine (C5) metabolism in newborns.Methods:Retrospective study.The screening and clinical follow-up data of 34 neonates with elevated C5 levels shown by the tandem mass spectrometry test in Children′s Hospital, Zhejiang University School of Medicine from January 2018 to December 2021 were collected.Afterwards, their ethylenediaminetetraacetic acid (EDTA) anticoagulant venous blood was collected to extract genomic DNA.A total of 79 genes related to genetic metabolic diseases, such as ACADSB, IVD and ACADM, were captured by liquid-phase capture technology.High-throughput sequencing and bioinformatics analysis were used to acquire gene variation information and the genes were categorized by American College of Medical Genetics and Genomics classification standard.According to the results of genetic analysis, the newborns with C5 elevation were divided into 3 groups: non-mutation group(11 cases), ACADSB mutation group(16 cases) and IVD mutation group(7 cases). Wilcoxon rank sum test was performed to analyze the difference between these groups. Results:Among 34 neonates, 6 ACADSB variants were detected in 16 cases, and 2 of them [c.461G>A (p.G154E), c.746delC(p.P249Lfs*15)] were novel variants.Eleven IVD variants were detected in 7 cases, and 7 of them [c.118A>G(p.N40D), c.296-10C>G, c.302A>G(p.Y101C), c.537G>A(p.M179I), c.667C>T(p.R223W), c.983A>G(p.K328R), c.1147+ 5G>A] were never reported before.There was no significant difference in the C5 concentration in initial screening among the three groups ( P>0.05). Conclusions:Mutations in ACADSB and IVD genes are the main causes of augmented C5 levels in neonatal screening.For newly discovered genetic variants, functional prediction by multiple bioinformatics analysis software is recommended.And it is also important to carry out clinical follow-up and evaluation.
5.Clinical manifestations, pathogenesis, and management strategies for permanent teeth with external root resorption after trauma
Chinese Journal of Stomatology 2023;58(11):1190-1196
External root resorption is physiological or pathological destruction of the hard tissues on the root′s external surface caused by various factors. Dental trauma is one of the main causes of pathological external root resorption. The manifestation and prognosis of external root resorption are closely related to the type of dental trauma, the degree of root damage, the stage of root development, and the presence of microbial infection et al. Effective management can prevent the occurrence of external root resorption or stop the progress of root resorption to avoid the early loss of traumatic teeth. This review focuses on the clinical manifestations, pathogenesis, and management strategies for permanent teeth with external root resorption after dental trauma, in order to provide a reference for the prevention and intervention of external root resorption after trauma in permanent teeth.
6.Study on the toxicity of the extract from Miao medicine Wikstroemia indica to zebrafish
Zhengyan HE ; Guo FENG ; Chuanqi ZHENG ; Wei LI ; Wen LIU ; Guanglin ZHU ; Wenjing WANG ; Hongmei SU ; Xueli SONG ; Ju ZHANG
China Pharmacy 2022;33(20):2443-2447
OBJECTIVE To study the toxicity of the extract from Mi ao medicine Wikstroemia indica to zebrafish . METHODS Zebrafish embryo model was used as the object ,after exposure to W. indica extract (10,20,40 μg/mL),the number of spontaneous twitching within 1 min,heart rate within 10 s,the occurrence of malformation and death were detected and recorded . Zebrafish was used as the object ,after exposure to W. indica extract(10-100 μg/mL)for 24,48 and 72 h,and the median lethal concentration(LC50)of W. indica extract to zebrafish at different time points were calculated . After exposure to low ,medium and high concentration (27,37,51 μg/mL)of W. indica extract,the liver phenotype ,hepatocyte apoptosis and lipid deposition of zebrafish were observed ,and the activities of alanine aminotransferase (ALT),aspartate aminotransferase (AST)and lactate dehydrogenase(LDH)in liver tissue were detected . RESULTS Compared with blank group ,the number of spontaneous twitching , malformation rate (except for 10 μg/mL group )and mortality of embryos increased significantly in 10,20,40 μg/mL groups of W. indica extract,and the heart rate (except for 10,20 μg/mL group )of embryos decreased significantly (P<0.05). LC50 of W. indica extract to zebrafish at 24,48 and 72 h were 39.850,28.300 and 21.490 μg/mL,respectively. After drug treatment ,the transparency of liver area of zebrafish in low ,medium and high concentration groups of W. indica extract reduced and their shape were enlarged;apoptosis and lipid deposition increased ;the activities of ALT ,AST and LDH in liver tissue were significantly increased (P<0.05). CONCLUSIONS Miao medicine W. indica extract had develop mental toxicity to zebrafish embryos and he patotoxicity to zebrafish .
7.Expert consensus on the diagnosis, treatment and prevention of monkeypox in children
Rongmeng JIANG ; Yuejie ZHENG ; Lei ZHOU ; Luzhao FENG ; Lin MA ; Baoping XU ; Hongmei XU ; Wei LIU ; Zhengde XIE ; Jikui DENG ; Lijuan XIONG ; Wanjun LUO ; Zhisheng LIU ; Sainan SHU ; Jianshe WANG ; Yi JIANG ; Yunxiao SHANG ; Miao LIU ; Liwei GAO ; Zhuang WEI ; Guanghua LIU ; Gang LIU ; Wei XIANG ; Yuxia CUI ; Gen LU ; Min LU ; Xiaoxia LU ; Runming JIN ; Yan BAI ; Leping YE ; Dongchi ZHAO ; Adong SHEN ; Xiang MA ; Qinghua LU ; Fengxia XUE ; Jianbo SHAO ; Tianyou WANG ; Zhengyan ZHAO ; Xingwang LI ; Yonghong YANG ; Kunling SHEN
Chinese Journal of Applied Clinical Pediatrics 2022;37(13):964-973
Monkeypox is a zoonotic disease.Previous studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications.In order to improve pediatricians′ understanding of monkeypox and achieve early detection, early diagnosis, early treatment and early disposal, the committee composed of more than 40 experts in the related fields of infectious diseases, pediatrics, infection control and public health formulate this expert consensus, on the basis of the latest clinical management and infection prevention and control for monkeypox released by the World Health Organization (WHO), the guidelines for diagnosis and treatment of monkeypox (version 2022) issued by National Health Commission of the People′s Republic of China and other relevant documents.During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis and differential diagnosis, treatment, discharge criteria, prevention, case management process and key points of prevention and control about monkeypox.
8.Diagnosis, treatment and prevention of severe acute respiratory syndrome coronavirus 2 infection in children: experts′ consensus statement (Fourth Edition)
Rongmeng JIANG ; Zhengde XIE ; Yi JIANG ; Xiaoxia LU ; Runming JIN ; Yuejie ZHENG ; Yunxiao SHANG ; Baoping XU ; Zhisheng LIU ; Gen LU ; Jikui DENG ; Guanghua LIU ; Xiaochuan WANG ; Jianshe WANG ; Luzhao FENG ; Wei LIU ; Yi ZHENG ; Sainan SHU ; Min LU ; Wanjun LUO ; Miao LIU ; Yuxia CUI ; Leping YE ; Adong SHEN ; Gang LIU ; Liwei GAO ; Lijuan XIONG ; Yan BAI ; Likai LIN ; Zhuang WEI ; Fengxia XUE ; Tianyou WANG ; Dongchi ZHAO ; Zhengyan ZHAO ; Jianbo SHAO ; Kwok-keung Daniel NG ; Wing-kin Gary WONG ; Xingwang LI ; Yonghong YANG ; Kunling SHEN
Chinese Journal of Applied Clinical Pediatrics 2022;37(14):1053-1065
Since December 2019, severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infections have raged globally for more than 2 years.China has always adopted scientific and effective prevention and control measures to achieved some success.However, with the continuous variation of SARS-CoV-2 cases and imported cases from abroad, the prevention and control work has become more difficult and complex.With the variation of the mutant strain, the number of cases in children changed, and some new special symptoms and complications were found, which proposed a new topic for the prevention and treatment of SARS-CoV-2 infection in children in China.Based on the third edition, the present consensus according to the characteristics of the new strain, expounded the etiology, pathology, pathogenesis, and according to the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of effective prevention and treatment of SARS-CoV-2 infection in children in China.
9.Experts′ consensus on severe acute respiratory syndrome coronavirus-2 vaccination of children
Yuejie ZHENG ; Xiaochuan WANG ; Luzhao FENG ; Zhengde XIE ; Yi JIANG ; Gen LU ; Xingwang LI ; Rongmeng JIANG ; Jikui DENG ; Miao LIU ; Baoping XU ; Zhuang WEI ; Gang LIU ; Xiaoxia LU ; Runming JIN ; Zhisheng LIU ; Yunxiao SHANG ; Sainan SHU ; Yan BAI ; Min LU ; Guanghua LIU ; Wanjun LUO ; Yuxia CUI ; Leping YE ; Likai LIN ; Dongchi ZHAO ; Adong SHEN ; Jianbo SHAO ; Lijuan XIONG ; Liwei GAO ; Tianyou WANG ; Zhengyan ZHAO ; Yonghong YANG ; Kunling SHEN
Chinese Journal of Applied Clinical Pediatrics 2021;36(18):1361-1367
At present, severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still rampant worldwide.As of September 10, 2021, there were about 222 million confirmed cases of corona virus disease 2019(COVID-19)and more than 4.6 million deaths worldwide.With the development of COVID-19 vaccines and the gradual vaccination worldwide, the increasing number of cases in children and unvaccinated young people has drawn attention.According to World Health Organization surveillance data, the proportion of COVID-19 infection cases in children gradually increased, and the proportion of cases in the age groups of under 5 years and 5-14 years increased from 1.0% and 2.5% in January 2020 to 2.0% and 8.7% in July 2021, respectively.At present, billions of adults have been vaccinated with various COVID-19 vaccines worldwide, and their protective effects including reducing infection and transmission, reducing severe disease and hospitalization, and reducing death, as well as high safety have been confirmed.Canada, the United States, Europe and other countries have approved the emergency COVID-19 vaccination in children and adolescents aged 12 to 17 years, and China has also approved the phased vaccination of COVID-19 vaccination in children and adolescents aged 3 to 17 years. For smooth advancement and implementation of COVID-19 vaccination in children, academic institutions, including National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health, and The Society of Pediatrics, Chinese Medical Association organized relevant experts to reach this consensus on COVID-19 vaccination in children.
10.Twenty key issues on severe acute respiratory syndrome coronavirus-2 vaccination in children
Baoping XU ; Zhuang WEI ; Gen LU ; Yuejie ZHENG ; Xiaochuan WANG ; Luzhao FENG ; Zhengde XIE ; Gang LIU ; Yi JIANG ; Xingwang LI ; Rongmeng JIANG ; Jikui DENG ; Miao LIU ; Xiaoxia LU ; Runming JIN ; Zhisheng LIU ; Yunxiao SHANG ; Sainan SHU ; Yan BAI ; Min LU ; Guanghua LIU ; Wanjun LUO ; Yuxia CUI ; Leping YE ; Likai LIN ; Dongchi ZHAO ; Adong SHEN ; Jianbo SHAO ; Lijuan XIONG ; Liwei GAO ; Tianyou WANG ; Zhengyan ZHAO ; Yonghong YANG ; Kunling SHEN
Chinese Journal of Applied Clinical Pediatrics 2021;36(18):1368-1372
Severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still worldwide.As a vulnerable group, severe and dead pediatric cases are also reported.Under this severe epidemic situation, children should be well protected.With the widespread vaccination of SARS-CoV-2 vaccine in adults, the infection rate have decreased.Therefore, SARS-CoV-2 vaccine inoculation for children groups step by step is of great significance to the protection of children and the prevention and control of corona virus disease 2019(COVID-19) as a whole.But the safety of children vaccinated with SARS-CoV-2 vaccine is a main concern of parents.Therefore, in order to ensure the safety of vaccination and the implementation of vaccination work, National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health and the Society of Pediatrics, Chinese Medical Association organized experts to interpret the main issue of parents about SARS-CoV-2 vaccine for children, in order to answer the doubts of parents.

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