Zhonghua er ke za zhi = Chinese journal of pediatrics最新文献

{"title":"[Progression of high resolution esophageal manometry in children's digestive diseases].","authors":"H Y Liu, B Y Chi, P Shao, F F Wang, Y Fang, H H Zhang","doi":"10.3760/cma.j.cn112140-20221213-01042","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221213-01042","url":null,"abstract":"高分辨率测压（HRM）目前是评估食管动力性疾病的权威检测技术，被广泛应用于成人食管动力相关疾病的临床诊断、治疗和科研工作。儿童处于快速生长发育阶段，其食管长度、宽度及功能与成人间的差异可能引起HRM结果的改变，芝加哥食管测压标准不断更新迭代，HRM应用的相关研究也层出不穷，本文综述HRM在儿童消化系统疾病中的应用及进展，为临床诊断和治疗方法的选择提供参考。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096946","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}

{"title":"[Microcephaly-short stature-impaired glucose metabolism syndrome in a pedigree].","authors":"Y Liu, Q Chen, F Liu, Y X Zhang, L H Shen, H Y Wei","doi":"10.3760/cma.j.cn112140-20221231-01080","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221231-01080","url":null,"abstract":"8岁和4岁11月龄2患儿来自同一家系，分别以“生长发育迟缓、诊断糖尿病并血糖不稳”和“间断抽搐”于2022年4月就诊于河南省儿童医院内分泌遗传代谢科，临床表现均存在小头畸形、身材矮小及不同程度的神经系统损伤，基因检测提示为PPP1R15B基因复合杂合变异，其中c.1972C>T：p.R658C遗传自母亲，c.49_65dup：p.P23Afs*66遗传自父亲，诊断为小头畸形-身材矮小-糖代谢缺陷综合征。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096951","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}

{"title":"[Mechanism of intestinal injury induced by WNT2B high-expressed fibroblasts in Crohn's disease].","authors":"Y L Cheng,&nbsp;S Z Xiao,&nbsp;D Q Liu,&nbsp;L L Geng,&nbsp;J B Gu,&nbsp;R Tang,&nbsp;L Lan,&nbsp;Y Zhu,&nbsp;P Y Chen,&nbsp;Z H He,&nbsp;S T Gong,&nbsp;Y Cheng","doi":"10.3760/cma.j.cn112140-20221202-01022","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221202-01022","url":null,"abstract":"<p><p><b>Objective:</b> To explore the mechanism of intestinal tissue damage induced by macrophages activated by WNT2B high-expressed fibroblasts. <b>Methods:</b> This study involved biological information analysis, pathological tissue research and cell experimental research. The biological information of the colon tissue from the children with inflammatory bowel disease in previous study was analyzed again with single-cell sequencing. The pathological tissues were collected by colonoscopy from 10 children with Crohn's disease treated in the Department of Gastroenterology of Guangzhou Women and Children's Medical Center from July 2022 to September 2022. According to the findings of colonoscopy, tissues with obvious inflammation or ulceration were classified as the inflammatory group, while tissues with slight inflammation and no ulceration were classified as the non-inflammatory group. HE staining was performed to observe the pathological changes of the colon tissues. Macrophage infiltration and CXCL12 expression were detected by immunofluorescence. In terms of cell experiments, fibroblasts transfected with WNT2B plasmid or empty plasmid were co-cultured with salinomycin treated or non-treated macrophages, respectively; the expression of proteins through Wnt classical pathway were detected by western blotting. Macrophages treated with SKL2001 were used as the experimental group, and those with phosphate buffer as the control group. The expression and secretion of CXCL12 in macrophages were detected by quantitative Real-time PCR and enzyme-linked immunosorbent assay (ELISA). <i>T</i>-test or rank sum test were used for the comparison between groups. <b>Results:</b> Single-cell sequencing analysis suggested that macrophages were the main cells in inflammatory bowel disease colon tissue, and there was interaction between WNT2B high-expressed fibroblasts and macrophages. HE staining of the 10 patients ((9.3±3.8) years old, 7 males and 3 females) showed that the pathological score of colon tissue in the inflammatory group was higher than that in the non-inflammatory group (4 (3, 4) <i>vs.</i> 2 (1, 2) points, <i>Z</i>=3.05, <i>P</i>=0.002). Tissue immunofluorescence indicated that the number of infiltrating macrophages in the inflammatory group was significantly higher than that in the non-inflammatory group under high power field of view (72.8±10.4 <i>vs.</i>8.4±3.5, <i>t</i>=25.10, <i>P</i><0.001), as well as the number of cells expressing CXCL12 (14.0±3.5 <i>vs.</i> 4.7±1.9, <i>t</i>=14.68, <i>P</i><0.001). In cell experiments, western blotting suggested an elevated level of glycogen synthase kinase-3β phosphorylation in macrophages co-cultured with fibroblast transfected with WNT2B plasmid, and salinmycin could reverse this change. Real-time PCR suggested that the transcription level of CXCL12 in the experimental group was higher than that in the control group (6.42±0.04 <i>vs.</i> 1.00±0.03, <i>t</i>=183.00, <i>P</i><0.001), as well as the expres","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113965","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}

{"title":"[Research progress in executive function in children and its relevant training methods].","authors":"J Ma,&nbsp;X D Lin,&nbsp;S G Zhong,&nbsp;Y Mao","doi":"10.3760/cma.j.cn112140-20230228-00142","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230228-00142","url":null,"abstract":"执行功能是指大脑一系列高级认知活动，包括抑制控制、工作记忆和认知灵活性3个关键组成部分。儿童执行功能的良好发展对其入学准备、学业成就极为关键，是关系其未来身心健康、社会适应和人生发展的重要因素。本文就近年来国内外该领域研究进展进行综述。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096944","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}

{"title":"[Chronic non-bacterial osteomyelitis with autoimmune hepatitis: a case report and literature review].","authors":"M Jin,&nbsp;X M Zhong,&nbsp;Y C Yan,&nbsp;K Y Yao,&nbsp;J M Lai","doi":"10.3760/cma.j.cn112140-20230112-00028","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230112-00028","url":null,"abstract":"Objective: To summarize the clinical characteristics and treatments of chronic non-bacterial osteomyelitis with autoimmune hepatitis in children. Methods: A child who had chronic non-bacterial osteomyelitis with autoimmune hepatitis was admitted to the Department of Gastroenterology of the Children's Hospital Capital Institute of Pediatrics at April 2022. The clinical data was retrospectively analyzed. Using the keywords of \"chronic non-bacterial osteomyelitis\"\"autoimmune hepatitis\" in Chinese and English, the literature from database establishment to December 2022 in CNKI, Wanfang, China Biomedical Literature Database and Pubmed was searched. Combined with this case, the clinical characteristics and treatment of chronic non-bacterial osteomyelitis combined with autoimmune hepatitis were analyzed. Results: A 5 years and 3 months girl was admitted to the Department of Gastroenterology of Children's Hospital, Capital Institute of Pediatrics for \"transaminase elevated for 1 year and swelling of right maxillofacial area for half a year\". The physical examinations at admission found a 4.0 cm × 4.0 cm swelling area with tenderness before the right ear, abdominal distention with visible abdominal wall vein, firm and enlarged liver (10.0 cm below the xiphoid and 4.5 cm below the right ribs), and splenomegaly (Line Ⅰ 10.0 cm, Line Ⅱ 11.5 cm, and Line Ⅲ 25.0 cm). There was no redness, swelling or restriction of the limbs. Laboratory examination found abnormal liver function with alanine aminotransferase 118 U/L, aspartate aminotransferase 227 U/L, γ-glutamyltransferase 360 U/L, and positive direct anti-human globulin test; immunology test found immunoglobulin G 41.60 g/L and a homogeneous type of antinuclear antibody of 1∶1 000; the autoimmune hepatitis antibody test found a positive anti-smooth muscle antibody (1∶100). Liver biopsy showed moderate interfacial inflammation and the patient was diagnosed with autoimmune hepatitis (International Autoimmune Hepatitis Group 19). The imaging findings showed extensive involvement of the bilateral mandible, while the right side was severe. There were expansile bone changes, thinning of the bone cortex, and significant swelling of the surrounding soft tissue in the mandibular body, mandibular angle, and mandibular ramus. After treatment of glucocorticoid, the swelling of the right maxillofacial region disappeared and the transaminase returned to normal. Only one case was reported before in English and none in Chinese. The two cases were both girls whose main clinical features were joint pain and swelling. The previous case started with pain in both knee joints, and developed liver injury during treatment while this case had liver injury as the initial clinical presentation. Besides, the affected sites and degrees of arthritis in the 2 cases were different. After glucocorticoid treatment, the clinical symptoms were alleviated, and transaminases returned to normal. Conclusions: Chronic non bacterial osteomyelitis may","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096948","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}

{"title":"[Diagnostic value of nasal nitric oxide for children with primary ciliary dyskinesia].","authors":"C He,&nbsp;Z Y Guo,&nbsp;W C Chen,&nbsp;Y J Liu,&nbsp;L F Tang,&nbsp;L B Wang,&nbsp;L L Qian","doi":"10.3760/cma.j.cn112140-20230216-00106","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230216-00106","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the value of nasal nitric oxide (nNO) measurement as a diagnostic tool for Chinese patients with primary ciliary dyskinesia (PCD). <b>Methods:</b> This study is a retrospective study. The patients were recruited from those who were admitted to the respiratory Department of Respiratory Medicine, Children's Hospital of Fudan University from March 2018 to September 2022. Children with PCD were included as the PCD group, and children with situs inversus or ambiguus, cystic fibrosis (CF), bronchiectasis, chronic suppurative lung disease and asthma were included as the PCD symptom-similar group. Children who visited the Department of Child health Care and urology in the same hospital from December 2022 to January 2023 were selected as nNO normal control group. nNO was measured during plateau exhalation against resistance in three groups. Mann-Whitney <i>U</i> test was used to analyze the nNO data. The receiver operating characteristic of nNO value for the diagnosis of PCD was plotted and, the area under the curve and Youden index was calculated to find the best cut-off value. <b>Results:</b> nNO was measured in 40 patients with PCD group, 75 PCD symptom-similar group (including 23 cases of situs inversus or ambiguus, 8 cases of CF, 26 cases of bronchiectasis or chronic suppurative lung disease, 18 cases of asthma), and 55 nNO normal controls group. The age of the three groups was respectively 9.7 (6.7,13.4), 9.3 (7.0,13.0) and 9.9 (7.3,13.0) years old. nNO values were significantly lower in children with PCD than in PCD symptom-similar group and nNO normal controls (12 (9,19) <i>vs.</i> 182 (121,222), 209 (165,261) nl/min, <i>U</i>=143.00, 2.00, both <i>P</i><0.001). In the PCD symptom-similar group, situs inversus or ambiguus, CF, bronchiectasis or chronic suppurative lung disease and asthma were significantly higher than children with PCD (185 (123,218), 97 (52, 132), 154 (31, 202), 266 (202,414) <i>vs.</i> 12 (9,19) nl/min,<i>U</i>=1.00, 9.00, 133.00, 0, all <i>P</i><0.001). A cut-off value of 84 nl/min could provide the best sensitivity (0.98) and specificity (0.92) with an area under the curve of 0.97 (95%<i>CI</i> 0.95-1.00, <i>P</i><0.001). <b>Conclusions:</b> nNO value can draw a distinction between patients with PCD and others. A cut-off value of 84 nl/min is recommended for children with PCD.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096952","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}

{"title":"[Expert consensus on the diagnosis and management of <i>Helicobacter pylori</i> infection in Chinese children (2022)].","authors":"","doi":"10.3760/cma.j.cn112140-20220929-00849","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20220929-00849","url":null,"abstract":"幽门螺杆菌（Hp）感染是人类常见的慢性感染之一，根除Hp可以减少儿童消化性溃疡的发生和复发，降低成年期胃癌的发生率。随着Hp耐药率的升高，既往推荐的一线治疗方案已不能满足临床需要。儿童补救治疗可用的药物有限，提高首次根除率尤为重要。结合国内外相关研究和指南，中华医学会儿科学分会消化学组、国家儿童医学中心消化专科联盟、中华儿科杂志编辑委员会组织专家制定本共识，以期规范儿童Hp感染的诊治，提高Hp感染的根除率。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113968","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}

{"title":"[Diagnosis and treatment of Angelman syndrome].","authors":"X N Du,&nbsp;J Wang,&nbsp;Y Wang","doi":"10.3760/cma.j.cn112140-20230322-00198","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230322-00198","url":null,"abstract":"Angelman综合征是由于母源染色体15q11.2-q13区域UBE3A基因功能缺陷所导致的基因组印记遗传病。临床上表现为严重神经发育障碍，包括智力障碍、语言缺失、癫痫发作及异常的脑电发放、运动障碍、睡眠及喂养问题、特殊面容及特异的行为特征。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096947","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}

{"title":"[The relationship between genetic polymorphism of CYP2C19 and the efficacy of <i>Helicobacter pylori</i> eradication therapy in children].","authors":"L L Luo,&nbsp;B Chen,&nbsp;X L Shu,&nbsp;W Zheng,&nbsp;G Long,&nbsp;M Z Jiang","doi":"10.3760/cma.j.cn112140-20221230-01076","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221230-01076","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the relationship between genetic polymorphisms of cytochrome P450 2C19 (CYP2C19) and the efficacy of <i>Helicobacter pylori</i> (Hp) eradication therapy in children. <b>Methods:</b> The retrospective cohort study was conducted on 125 children with gastroscopy and positive rapid urease test (RUT) from September 2016 to December 2018 who presented to the Children's Hospital of Zhejiang University School of Medicine due to gastrointestinal symptoms including nausea, vomiting, abdominal pain, bloating, acid reflux, heartburn, chest pain, vomiting blood and melena. Hp culture and drug susceptibility test were carried out with gastric antrum mucosa before treatment. All the patients completed 2 weeks of standardized Hp eradication therapy and had ¹³C urea breath test 1 month after that, which was used to evaluate the curative effect. The DNA of gastric mucosa after RUT was analyzed and CYP2C19 gene polymorphism was detected. Children were grouped according to metabolic type. Combined with the results of Hp culture and drug susceptibility, the relationship between CYP2C19 gene polymorphism and the efficacy of Hp eradicative treatment was analyzed in children. Chi square test was used for row and column variables, and Fisher exact test was used for comparison between groups. <b>Results:</b> One hundred and twenty five children were enrolled in the study, of whom 76 were males and 49 females. The genetic polymorphism of CYP2C19 in these children found poor metabolizer (PM) of 30.4% (38/125), intermediate metabolizer (IM) of 20.8% (26/125), normal metabolizer (NM) of 47.2% (59/125), rapid metabolizer (RM) of 1.6% (2/125), and ultrarapid metabolizer (UM) of 0. There were statistically significant in positive rate of Hp culture among these groups (<i>χ</i>²=124.00, <i>P</i><0.001). In addition, the successful rates of Hp eradication in PM, IM, NM and RM genotypes were 84.2% (32/38), 53.8% (14/26), 67.8% (40/59), and 0, respectively, with significant differences (<i>χ</i>²=11.35, <i>P=</i>0.010); those in IM genotype was significantly lower than that in PM genotype (<i>P</i>=0.011). With the same standard triple Hp eradicative regimen, the successful rate of Hp eradication for IM type was 8/19, which was lower than that of PM (80.0%, 24/30) and NM type (77.3%, 34/44) (<i>P</i>=0.007 and 0.007, respectively). There was a significant difference in the efficacy of Hp eradication treatment among different genotypes (<i>χ</i>²=9.72, <i>P</i>=0.008). According to the clarithromycin susceptibility result, the successful rate of Hp eradication treatment for IM genotype was 4/15 in the sensitive group and 4/4 in the drug-resistant group (<i>χ</i>²=6.97, <i>P=</i>0.018). <b>Conclusions:</b> The genetic polymorphism of CYP2C19 in children is closely related to the efficacy of Hp eradication treatment. PM has a higher successful rate of eradication treatment than the other genot","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113964","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}

{"title":"[Expert consensus on diagnosis and treatment of esophageal stricture in Chinese children].","authors":"","doi":"10.3760/cma.j.cn112140-20230417-00277","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230417-00277","url":null,"abstract":"儿童食管狭窄在临床并不少见，可引起吞咽困难、进食障碍、呕吐或呛咳等症状，导致患儿营养不良和生长发育落后，严重影响患儿的身心健康。中华医学会儿科学分会消化学组及中华儿科杂志编辑委员会组织相关专家制定了本共识，旨在更好地指导临床实践，提髙儿童食管狭窄的诊治水平，减少并发症，最大程度上满足患儿的进食和营养需求。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113967","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}