Objective: To perform second-generation sequencing of a candidate gene for ectodermal dysplasia in a child diagnosed with hypohidrotic ectodermal dysplasia, in order to identify the pathogenic site and clarify the diagnosis. Method: A candidate gene for hypohidrotic ectodermal dysplasia in a child from a family was sequenced in the second generation, and the suspected pathogenic mutation screened was verified using the Sanger sequencing method. This mutation was also detected in other members of the family and 100 unrelated healthy individuals. As a result, EDA c.300 was found in the patient and his younger brother (also a patient)_ 301delCC (p.Pro101His fs * 11) lacks a frameshift mutation, and its mother is a carrier of the mutation, while its father and sister have no mutations. At the same time, 100 unrelated normal individuals did not have this mutation. Conclusion: EDA gene c.300_ The deletion and frameshift mutation of 301delCC (p.Pro101His fs * 11) may be the main cause of hypohidrotic ectodermal dysplasia in two children in this family.
{"title":"Genetic analysis of a pedigree affected with hypohidrotic ectodermal dysplasia caused by a novel mutation of EDA gene","authors":"Ke Yang, Yuwei Zhang, Guiyu Lou, Na Qi, Hongjie Zhu, Litao Qin, Bing M. Zhang, Dan Wang","doi":"10.3760/CMA.J.CN101070-20190304-00151","DOIUrl":"https://doi.org/10.3760/CMA.J.CN101070-20190304-00151","url":null,"abstract":"目的 \u0000对一个临床诊断为少汗性外胚层发育不良患儿的外胚层发育不良候选基因进行二代测序，以期发现致病位点以明确诊断。 \u0000 \u0000 \u0000方法 \u0000对家系中一例患儿的少汗性外胚层发育不良的候选基因进行二代测序，并利用Sanger测序法对筛选出的可疑致病突变进行验证，同时在家系中其他成员和100例无关联健康个体中检测此突变。 \u0000 \u0000 \u0000结果 \u0000在患儿和其弟弟(亦为患者)中发现EDA c．300_301delCC(p.Pro101His fs*11)缺失移码突变，其母亲为该突变的携带者，其父亲和妹妹无突变。同时100例无关联正常个体均无此突变。 \u0000 \u0000 \u0000结论 \u0000EDA基因c.300_301delCC(p.Pro101His fs*11)缺失移码突变可能是该家系中2例患儿罹患少汗性外胚层发育不良的主要原因。","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"236-238"},"PeriodicalIF":0.0,"publicationDate":"2020-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45734420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-13DOI: 10.3760/CMA.J.ISSN.2095-428X.2020.02.014
Hua Liu, Yan Yang, Qing Song
Objective To evaluate the catch-up growth features of preterm infants and to explore the influence of catch-up growth on bone age development. Methods The two-way cohort study was conducted.The preterm infants who visited the Child Health Department of Wuhan Children′s Hospital from January 1st to December 31th in 2015 were selected as the exposed group and the full term infants with age, gender and ethnicity matched with the exposed group ones were selected according to the ratio of 1∶1 for the non-exposed group who visited the same hospital at the same time non.Information of those childeren as the birth history, past birth and development history were collected in both groups were followed up till 3 years old and photographed on the left wrist X-ray film for bone age evaluation at 3 years old. Results At the time of enrollment, 392 subjects were selected in the exposed group and non-exposed group and 239 infants in the exposed group and 247 infants in non-exposed group were followed up till 3 years.During the follow-up period, there was a conspicuous catch-up growth trend of body length and weight in the exposed group, and weight Z score was the lowest at 2 months old, but the overall level of body length and weight were still lower than the non-exposed group.The start of catching up growth in body weight took precedence over the length, which was reflected in the time when the weight caught up to Z=-2 and Z=-1 as 3.78 months old and 16.18 months old, whereas the time of length catching up to Z=-2 and Z=-1 was 7.24 months old and 22.21 months old.The length catch-up growth was slower during the period of 5-10 months old and 12-21 months old.The age of bone age assessment in the 2 groups was between 2.80 and 3.20 years old(mean 3.03 years old). The bone age of boys in the exposed group was higher than that of the non-exposed ones[(3.13±0.61) years old vs.(2.75±0.51) years old], and there was statistical significance (t=-5.52, P 0.05). Body length Z-score at the age of 1 month, 2 months, 4 months, 5 months, 6 months, 12 months and weight Z-score at 2 months, 3 months, 4 months were the facilitating factors for skeletal development, whereas body length Z-score at 15 months, 18 months, 36 months and weight Z-score at 15 months were obstacles. Conclusions Premature infant have a catch-up trend before 3 years old.In order to delay the skeletal development, it is necessary to avoid rapid catch-up growth of weight and length in premature infants before 1 year old. Key words: Preterm infants; Catch-up growth; Bone age development; Cohort study
{"title":"Impact of catch-up growth on bone age development in preterm infants from a cohort study","authors":"Hua Liu, Yan Yang, Qing Song","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.014","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.014","url":null,"abstract":"Objective \u0000To evaluate the catch-up growth features of preterm infants and to explore the influence of catch-up growth on bone age development. \u0000 \u0000 \u0000Methods \u0000The two-way cohort study was conducted.The preterm infants who visited the Child Health Department of Wuhan Children′s Hospital from January 1st to December 31th in 2015 were selected as the exposed group and the full term infants with age, gender and ethnicity matched with the exposed group ones were selected according to the ratio of 1∶1 for the non-exposed group who visited the same hospital at the same time non.Information of those childeren as the birth history, past birth and development history were collected in both groups were followed up till 3 years old and photographed on the left wrist X-ray film for bone age evaluation at 3 years old. \u0000 \u0000 \u0000Results \u0000At the time of enrollment, 392 subjects were selected in the exposed group and non-exposed group and 239 infants in the exposed group and 247 infants in non-exposed group were followed up till 3 years.During the follow-up period, there was a conspicuous catch-up growth trend of body length and weight in the exposed group, and weight Z score was the lowest at 2 months old, but the overall level of body length and weight were still lower than the non-exposed group.The start of catching up growth in body weight took precedence over the length, which was reflected in the time when the weight caught up to Z=-2 and Z=-1 as 3.78 months old and 16.18 months old, whereas the time of length catching up to Z=-2 and Z=-1 was 7.24 months old and 22.21 months old.The length catch-up growth was slower during the period of 5-10 months old and 12-21 months old.The age of bone age assessment in the 2 groups was between 2.80 and 3.20 years old(mean 3.03 years old). The bone age of boys in the exposed group was higher than that of the non-exposed ones[(3.13±0.61) years old vs.(2.75±0.51) years old], and there was statistical significance (t=-5.52, P 0.05). Body length Z-score at the age of 1 month, 2 months, 4 months, 5 months, 6 months, 12 months and weight Z-score at 2 months, 3 months, 4 months were the facilitating factors for skeletal development, whereas body length Z-score at 15 months, 18 months, 36 months and weight Z-score at 15 months were obstacles. \u0000 \u0000 \u0000Conclusions \u0000Premature infant have a catch-up trend before 3 years old.In order to delay the skeletal development, it is necessary to avoid rapid catch-up growth of weight and length in premature infants before 1 year old. \u0000 \u0000 \u0000Key words: \u0000Preterm infants; Catch-up growth; Bone age development; Cohort study","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"156-160"},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44289927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective To investigate the protective effects of bovine lactoferrin (bLF) supplementation on intestinal mucosal tissue and its influence on of inflammatory factors in the premature rats model of necrotizing enterocolitis(NEC), and to provide the theoretical basis for prevention of NEC by bLF supplementation. Methods Premature SD rats were randomly divided into 4 groups, 25 cases in each group.Control group: oral feeding; model group : oral feeding with lipopolysaccharides(LPS) gavage + hypoxic stimulation; high dose bLF intervention group: daily bLF (7 g/L) + oral feeding with LPS gavage + hypoxic stimulation; low dose bLF intervention group: daily bLF (2 g/L) + oral feeding with LPS gavage + hypoxic stimulation.Histopathological analysis was performed by HE staining.The expression levels of interleukin-1β(IL-1β)and interleukin-6(IL-6)in intestinal mucosa were detected by enzyme linked immunosorbent assay (ELISA). Results (1) Morphological observation: the intestinal wall of model group was thin, and there were different degrees of pneumoconiosis and effusion in intestinal cavity.Under the microscopy, it could be observed that the intestinal tissue necrosis was serious, the intestinal villi fell off, glands arranged disorderly, epithelial edema was significant, the lamina propria and submucosa had severely edema and were separated, and there were a large number of inflammatory cells infiltrated.The above-mentioned manifestations were alleviated in the high-dose and low-dose bLF intervention groups, and no significant abnormalities were found in the control group.(2) The expression of IL-1β and IL-6 in intestinal tissue: the tissue concentration of IL-1β and IL-6 in the model group rats [(380.89±20.25) ng/L, (485.12±31.44) ng/L]were significantly higher than those in the control group[(270.69±45.58) ng/L, (212.62±89.46) ng/L](q =9.785, 14.030, all P 0.05; IL-6: q=-1.140, P>0.05). Conclusion Enteral bLF supplementation can alleviate the damage of intestinal tissue in NEC model of premature SD rats, inhibit the expression of IL-1β and IL-6 inflammatory factors in intestinal tissue, and have a protective effect on intestinal tissue. Key words: Bovine lactoferrin; Necrotizing enterocolitis; Interleukin-1β; Interleukin-6
{"title":"Effect of bovine lactoferrin supplementation on intestinal inflammatory factor expression in premature rats model of necrotizing enterocolitis","authors":"Xiang-yong Kong, Lu Zhuang, Meiyu Wang, Shan Zhang, Jianru Peng, Zhichun Feng","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.013","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.013","url":null,"abstract":"Objective \u0000To investigate the protective effects of bovine lactoferrin (bLF) supplementation on intestinal mucosal tissue and its influence on of inflammatory factors in the premature rats model of necrotizing enterocolitis(NEC), and to provide the theoretical basis for prevention of NEC by bLF supplementation. \u0000 \u0000 \u0000Methods \u0000Premature SD rats were randomly divided into 4 groups, 25 cases in each group.Control group: oral feeding; model group : oral feeding with lipopolysaccharides(LPS) gavage + hypoxic stimulation; high dose bLF intervention group: daily bLF (7 g/L) + oral feeding with LPS gavage + hypoxic stimulation; low dose bLF intervention group: daily bLF (2 g/L) + oral feeding with LPS gavage + hypoxic stimulation.Histopathological analysis was performed by HE staining.The expression levels of interleukin-1β(IL-1β)and interleukin-6(IL-6)in intestinal mucosa were detected by enzyme linked immunosorbent assay (ELISA). \u0000 \u0000 \u0000Results \u0000(1) Morphological observation: the intestinal wall of model group was thin, and there were different degrees of pneumoconiosis and effusion in intestinal cavity.Under the microscopy, it could be observed that the intestinal tissue necrosis was serious, the intestinal villi fell off, glands arranged disorderly, epithelial edema was significant, the lamina propria and submucosa had severely edema and were separated, and there were a large number of inflammatory cells infiltrated.The above-mentioned manifestations were alleviated in the high-dose and low-dose bLF intervention groups, and no significant abnormalities were found in the control group.(2) The expression of IL-1β and IL-6 in intestinal tissue: the tissue concentration of IL-1β and IL-6 in the model group rats [(380.89±20.25) ng/L, (485.12±31.44) ng/L]were significantly higher than those in the control group[(270.69±45.58) ng/L, (212.62±89.46) ng/L](q =9.785, 14.030, all P 0.05; IL-6: q=-1.140, P>0.05). \u0000 \u0000 \u0000Conclusion \u0000Enteral bLF supplementation can alleviate the damage of intestinal tissue in NEC model of premature SD rats, inhibit the expression of IL-1β and IL-6 inflammatory factors in intestinal tissue, and have a protective effect on intestinal tissue. \u0000 \u0000 \u0000Key words: \u0000Bovine lactoferrin; Necrotizing enterocolitis; Interleukin-1β; Interleukin-6","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"151-155"},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69994450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-13DOI: 10.3760/CMA.J.ISSN.2095-428X.2020.02.001
Yi Jiang, Bao-Ping Xu, R. Jin, Yuejie Zheng, Zhengde Xie, Likai Lin, Y. Shang, Xia-min Lu, S. Shu, Yan Bai, Jikui Deng, Min Lu, Leping Ye, Tianyou Wang, Yongyan Wang, Xuefeng Wang, Li-Wei Gao, Xing-wang Li, Dongchi Zhao, Yonghong Yang, K. Shen
{"title":"Diagnosis, treatment and prevention of 2019 novel coronavirus infection in children: experts' consensus statement (First Edition)","authors":"Yi Jiang, Bao-Ping Xu, R. Jin, Yuejie Zheng, Zhengde Xie, Likai Lin, Y. Shang, Xia-min Lu, S. Shu, Yan Bai, Jikui Deng, Min Lu, Leping Ye, Tianyou Wang, Yongyan Wang, Xuefeng Wang, Li-Wei Gao, Xing-wang Li, Dongchi Zhao, Yonghong Yang, K. Shen","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.001","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.001","url":null,"abstract":"","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"81-85"},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69994387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-13DOI: 10.3760/CMA.J.ISSN.2095-428X.2020.02.012
Yi Jiang, Xia-min Lu, R. Jin, Yuejie Zheng, Bao-Ping Xu, Zhengde Xie, Z. Liu, Likai Lin, Y. Shang, S. Shu, Yan Bai, Min Lu, G. Lu, Jikui Deng, W. Luo, L. Xiong, Miao Liu, Y. Cui, Leping Ye, L. Gao, Yongyan Wang, Xuefeng Wang, J. Li, Tao Wang, R. Jiang, X. Li, Dongchi Zhao, J. Shao, Yonghong Yang, K. Shen
{"title":"Diagnosis, treatment and prevention of 2019 novel coronavirus in children: experts' consensus statement (Second Edition)","authors":"Yi Jiang, Xia-min Lu, R. Jin, Yuejie Zheng, Bao-Ping Xu, Zhengde Xie, Z. Liu, Likai Lin, Y. Shang, S. Shu, Yan Bai, Min Lu, G. Lu, Jikui Deng, W. Luo, L. Xiong, Miao Liu, Y. Cui, Leping Ye, L. Gao, Yongyan Wang, Xuefeng Wang, J. Li, Tao Wang, R. Jiang, X. Li, Dongchi Zhao, J. Shao, Yonghong Yang, K. Shen","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.012","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.012","url":null,"abstract":"","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"143-150"},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41917350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-13DOI: 10.3760/CMA.J.ISSN.2095-428X.2020.02.002
Yan Bai, Leping Ye, Q. Qin, L. Gao, Dongchi Zhao, Yi Jiang, Yuejie Zheng, Bao-Ping Xu, Zhengde Xie, Likai Lin, Y. Shang, Xia-min Lu, S. Shu, Jikui Deng, Min Lu, Tao Wang, R. Jin, Yonghong Yang, K. Shen
{"title":"Twenty key issues on prevention of severe acute respiratory syndrome coronavirus 2 infection in children","authors":"Yan Bai, Leping Ye, Q. Qin, L. Gao, Dongchi Zhao, Yi Jiang, Yuejie Zheng, Bao-Ping Xu, Zhengde Xie, Likai Lin, Y. Shang, Xia-min Lu, S. Shu, Jikui Deng, Min Lu, Tao Wang, R. Jin, Yonghong Yang, K. Shen","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.002","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.002","url":null,"abstract":"","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"86-91"},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45441319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The epidemic situation of novel coronavirus in China is still continuing and is gradually spreading all over the world. As a susceptible population, the number of cases among children is increasing. Children with diabetes complicated with infectious diseases COVID-19 accompanied by gastrointestinal symptoms are prone to hypoglycemia risk, while infection makes it difficult to control the rise of blood sugar, which may lead to diabetes ketoacidosis (DKA) and multiple organ failure in severe cases. This article puts forward suggestions on the diagnosis and treatment of diabetes children with COVID-19 during hospitalization. While actively treating COVID-19, if combined with DKA, attention should be paid to active fluid replacement, continuous intravenous infusion of low-dose insulin, strengthened blood glucose monitoring, timely adjustment of insulin dosage, and reasonable diet.
{"title":"The inpatients treatment strategy of diabetic children and adolescents combined with coronavirus disease","authors":"Hereditary","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.010","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.010","url":null,"abstract":"我国新型冠状病毒肺炎(COVID-19)疫情仍在持续，逐渐遍布全球。儿童作为易感人群，发病人数日益增多。儿童糖尿病患者合并感染性疾病COVID-19伴有胃肠道症状患者易有低血糖风险，而感染使血糖升高难于控制，严重者可能诱发糖尿病酮症酸中毒(diabetic ketoacidosis，DKA)和多脏器功能衰竭。本文针对合并COVID-19的糖尿病患儿住院期间的诊治提出建议。在积极治疗COVID-19的同时，若合并DKA要注意积极补液、小剂量胰岛素持续静脉滴注，加强血糖监测，及时调整胰岛素用量，合理饮食。","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"133-138"},"PeriodicalIF":0.0,"publicationDate":"2020-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48891847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-02-25DOI: 10.3760/CMA.J.ISSN.2095-428X.2020.02.007
Yan-ming Gu, Chao-bin Shen, Tong-Xin Chen
2019-novel coronavirus (2019-nCoV) is a highly pathogenic human CoV that first emerged in Wuhan in 2019.2019-nCoV has a zoonotic origin and poses a major threat to public health.However, little is known about the viral factors contributing to the high virulence of 2019-nCoV.Many animal viruses, including CoVs, encode proteins that interfere with host gene expression, including those involved in antiviral immune responses, and these viral proteins are often major virulence factors.Human coronaviruses (HCoVs) are known respiratory pathogens associated with a range of respiratory infection.In the past 17 years, the onset of 2019-nCoV, severe acute respiratory syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome coronavirus (MERS-CoV) have thrust HCoVs into spotlight of the research community due to their high pathogenicity in humans.The recent study of HCoVs-host interactions has contributed extensively to our understanding of infection pathogenesis of 2019-nCoV.This review discuss various host physiopathologic mechanism, such as apoptosis, innate immunity, endoplasmic reticulum (ER) stress response, mitogen-activated protein kinase (MAPK) pathway and nuclear factor kappa B (NF-κB) pathway that may be modulated by HCoVs and provides evidence for the intensive investigate of 2019-nCoV infection. Key words: Human coronavirus; Apoptosis; Innate immunity; Endoplasmic reticulum stress; Mitogen-activated protein; Nuclear factor kappa B
{"title":"Advance in human coronaviruses research of host interactions","authors":"Yan-ming Gu, Chao-bin Shen, Tong-Xin Chen","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.007","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.007","url":null,"abstract":"2019-novel coronavirus (2019-nCoV) is a highly pathogenic human CoV that first emerged in Wuhan in 2019.2019-nCoV has a zoonotic origin and poses a major threat to public health.However, little is known about the viral factors contributing to the high virulence of 2019-nCoV.Many animal viruses, including CoVs, encode proteins that interfere with host gene expression, including those involved in antiviral immune responses, and these viral proteins are often major virulence factors.Human coronaviruses (HCoVs) are known respiratory pathogens associated with a range of respiratory infection.In the past 17 years, the onset of 2019-nCoV, severe acute respiratory syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome coronavirus (MERS-CoV) have thrust HCoVs into spotlight of the research community due to their high pathogenicity in humans.The recent study of HCoVs-host interactions has contributed extensively to our understanding of infection pathogenesis of 2019-nCoV.This review discuss various host physiopathologic mechanism, such as apoptosis, innate immunity, endoplasmic reticulum (ER) stress response, mitogen-activated protein kinase (MAPK) pathway and nuclear factor kappa B (NF-κB) pathway that may be modulated by HCoVs and provides evidence for the intensive investigate of 2019-nCoV infection. \u0000 \u0000Key words: \u0000Human coronavirus; Apoptosis; Innate immunity; Endoplasmic reticulum stress; Mitogen-activated protein; Nuclear factor kappa B","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"118-124"},"PeriodicalIF":0.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44252129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The epidemic situation of novel coronavirus Disease (COVID-19) in China has continued so far. Current epidemiology shows that people are generally susceptible to novel coronavirus (2019 new coronavirus, 2019 nCoV), and patients with basic diseases or over 60 years old are high-risk groups for severe cases of COVID-19. For rare diseases, especially children with neuromuscular diseases who are susceptible to respiratory infections and can easily worsen or even endanger their lives, more attention needs to be paid to strengthening protection and home rehabilitation. Therefore, the Endocrine Genetics and Metabolism Group of the Chinese Medical Pediatrics Branch, the Neurology Group of the Chinese Medical Pediatrics Branch, the Rehabilitation Group of the Chinese Medical Pediatrics Branch, and the Editorial Committee of the Chinese Journal of Practical Pediatrics take the most common neuromuscular disease in infants and young children - spinal muscular atrophy (SMA) as an example, According to the relevant disease diagnosis and treatment plans released by the National Health Commission and the consensus of SMA multidisciplinary management experts, combined with the clinical characteristics of COVID-19 in children, prevention and control recommendations for neuromuscular disease children, represented by SMA, as well as expert recommendations for rehabilitation training and medication guidance during the epidemic, have been formulated to guide the diagnosis and treatment, home management, and rehabilitation of neuromuscular disease children with combined COVID-19.
{"title":"Recommendations for prevention and management of children with neuromuscular disorders during the epidemic period of corona virus disease (COVID-19)","authors":"H. Xiong, Yuwu Jiang, Junfen Fu","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.008","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.008","url":null,"abstract":"我国新型冠状病毒肺炎(Corona Virus Disease，COVID-19)疫情到目前为止还在持续。现有流行病学显示人群对新型冠状病毒(2019 novel coronavirus，2019-nCoV)普遍易感，有基础疾病或60岁以上患者是COVID-19重症病例的高危人群。对于罕见病，尤其是对呼吸道感染易感而且一旦患病极易加重、甚至危及生命的神经肌肉病患儿，如何加强防护和进行居家康复，目前需要更多的关注。因此，中华医学会儿科学分会内分泌遗传代谢学组、中华医学会儿科学分会神经学组、中华医学会儿科学分会康复学组和《中华实用儿科临床杂志》编辑委员会以婴幼儿最常见的神经肌肉病-脊髓性肌萎缩症(spinal muscular atrophy，SMA)为例，根据国家卫生健康委员会发布的相关疾病诊治方案和SMA多学科管理专家共识，结合儿童COVID-19的临床特点，制定了以SMA为代表的神经肌肉病患儿COVID-19的防控建议以及疫情期间康复训练和用药指导的专家建议，以指导合并COVID-19的神经肌肉病患儿的诊治及其居家管理、康复。","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47464056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The outbreak of novel coronavirus pneumonia (NCP) has become the most severe public health issue at the moment, threatening people′s lives. Pediatricians in Shanghai have recently launched a discussion on the focused questions of NCP, including the incidence situation, epidemiological features, essentials of early screening, treatment and nosocomial infection prevention of children′s novel coronavirus infection (2019-nCoV), and further put forward the experts proposal upon the patterns of disease occurrence, development, diagnosis and control, for the reference of frontline pediatricians. Key words: Novel coronavirus pneumonia; Child; Rapid screening; Diagnosis; Treatment; Prevention
{"title":"Experts proposal and frequently asked questions of rapid screening and prevention of novel coronavirus pneumonia in children","authors":"Lei Zhang, Q. Cao, Ying Wang, Q. Lu, Jianguo Hong, Yong Yin, X. Zhang, Jianhua Zhang, Min Lu, Xiao-yan Dong, Yanming Lu, Jing Zhang, Jian Zhang","doi":"10.3760/CMA.J.ISSN.2095-428X.2020.02.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.2095-428X.2020.02.005","url":null,"abstract":"The outbreak of novel coronavirus pneumonia (NCP) has become the most severe public health issue at the moment, threatening people′s lives. Pediatricians in Shanghai have recently launched a discussion on the focused questions of NCP, including the incidence situation, epidemiological features, essentials of early screening, treatment and nosocomial infection prevention of children′s novel coronavirus infection (2019-nCoV), and further put forward the experts proposal upon the patterns of disease occurrence, development, diagnosis and control, for the reference of frontline pediatricians. \u0000 \u0000 \u0000Key words: \u0000Novel coronavirus pneumonia; Child; Rapid screening; Diagnosis; Treatment; Prevention","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"105-111"},"PeriodicalIF":0.0,"publicationDate":"2020-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45679409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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