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

{"title":"[Impact of asthma action plan-based remote joint management model on asthma control in children].","authors":"C F Zhang,&nbsp;Y Gao,&nbsp;Y Qin,&nbsp;X Y Hu,&nbsp;J N Lu,&nbsp;S J Zhao,&nbsp;W C Lin,&nbsp;Y F Liu,&nbsp;G Q Yin,&nbsp;W H Jiang,&nbsp;H F Fan,&nbsp;L Deng","doi":"10.3760/cma.j.cn112140-20230222-00123","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230222-00123","url":null,"abstract":"<p><p><b>Objective:</b> To compare the effects of the China Children's Asthma Action Plan (CCAAP)-based remote joint management model with traditional management model on the control of childhood asthma. <b>Methods:</b> A retrospective cohort study was conducted to analyze the general data and asthma control assessment data of 219 children with asthma who attended the respiratory department of Guangzhou Women's and Children's Medical Center from April 2021 to October 2021 and were followed up for 1 year or more. According to the follow-up management model, the CCAAP-based remote joint management model was used in the observation group and the traditional management model was used in the control group, and the propensity score matching method was applied to match the data of children in the two management models for comparison. Paired-samples <i>t</i>-test, Wilcoxon signed-rank test, McNemar <i>χ</i>²-test or <i>χ</i>²-test or nonparametric tests were used to compare the general data and asthma control assessment data between the two matched groups of children. <b>Results:</b> Among 219 children with asthma, 145 were male and 74 were female, aged at consultation (7.2±2.4) years. There were 147 cases in the observation group and 72 cases in the control group, and 27 cases in each of the observation and control groups were successfully matched. The number of asthma exacerbation aura, acute exacerbations, and emergency room visits or hospitalizations for asthma exacerbations were lower in the observation group than in the control group after pairing (1 (0, 2) <i>vs.</i> 3 (1, 5) times, 0 (0,0) <i>vs.</i> 0 (0, 1) times, 0 (0,0) <i>vs.</i> 1 (0, 1) times, <i>Z</i>=-3.42, -2.58, -3.17, all <i>P</i><0.05). The use of peak flowmeters was higher in children aged 5 years and older in the observation group than in the control group after pairing (100% (22/22) <i>vs.</i> 13% (3/23), <i>χ</i>²=54.00,<i>P</i><0.001). The ratio of actual to predicted 1st second expiratory volume of force after follow-up in the observation group after pairing was higher than that before follow-up in the observation group and after follow-up in the control group ((95±11)% <i>vs.</i> (85±10)%, (95±11)% <i>vs.</i> (88±11)%, <i>t</i>=-3.40, 2.25, all <i>P</i><0.05). The rate of complete asthma control after follow-up was higher in both the observation and control groups after pairing than before follow-up for 12 months in both groups (93% (25/27) <i>vs.</i> 41% (11/27), 52% (14/27) <i>vs.</i> 41% (11/27), <i>H</i>=56.19, 45.37, both <i>P</i><0.001), and the rate of complete control of asthma in children in the observation group was higher than that in the control group at 3 and 12 months of follow-up management (56% (15/27) <i>vs.</i> 25% (5/20), 93% (25/27) <i>vs.</i> 52% (14/27), <i>χ</i>²=47.00, 54.00, both <i>P</i><0.001). The number of offline follow-up visits, inhaled hormone medication adherence scores, and caregiver's asthma percep","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10130963","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":"[Refractory macrophage activation syndrome in children with systemic onset juvenile idiopathic arthritis treated with canakinumab].","authors":"X N Zhu,&nbsp;T Y He,&nbsp;S L Luo,&nbsp;Y Y Huang,&nbsp;Y B Xu,&nbsp;S L Liu,&nbsp;J Yang","doi":"10.3760/cma.j.cn112140-20230220-00114","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230220-00114","url":null,"abstract":"患儿　男，3岁7月龄，以发热、关节肿痛为首发表现，外周血白细胞及超敏C反应蛋白增高，病程中患儿血小板下降、铁蛋白升高、纤维蛋白原降低、NK细胞活性下降以及可溶性白细胞介素2受体升高，诊断幼年特发性关节炎全身型合并巨噬细胞活化综合征（MAS）。糖皮质激素冲击并加用卢可替尼口服，启用94噬血方案及2次挽救方案治疗后效果欠佳，患儿仍反复发热，铁蛋白持续升高，诊断难治性MAS。加用卡那单抗并定期维持治疗，患儿5岁，糖皮质激素已停用，疾病持续缓解。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10130960","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":"[Screen viewing in children under 3 years old: a review of correlates based on socio-ecological models].","authors":"Y M Lin,&nbsp;J L Huang,&nbsp;X Q Zhang","doi":"10.3760/cma.j.cn112140-20230608-00387","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230608-00387","url":null,"abstract":"随着电子设备的普及，屏幕暴露在3岁以下儿童中越来越普遍，并对婴幼儿生长发育带来一定的影响。本综述基于社会生态模型从婴幼儿个体因素、养育者相关因素、家庭屏幕媒体相关环境及宏观环境因素4个方面分析影响婴幼儿屏幕暴露的主要因素，为今后制定全面有效的婴幼儿屏幕暴露干预策略提供循证证据和理论基础。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10130962","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":"[Minutes of the 17^th National Academy of Neonatology].","authors":"J Wang,&nbsp;J H Fu,&nbsp;W H Zhou","doi":"10.3760/cma.j.cn112140-20230713-00451","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230713-00451","url":null,"abstract":"第十七届全国新生儿学术会议于2023年6月15至17日在辽宁省本溪市顺利召开。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113033","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 association between <i>Helicobacter pylori</i> virulence factor genotypes and gastroduodenal diseases in children].","authors":"J J Ying,&nbsp;X L Shu,&nbsp;G Long,&nbsp;M Z Jiang","doi":"10.3760/cma.j.cn112140-20230328-00216","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230328-00216","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the association between <i>Helicobacter pylori</i> (Hp) virulence factor genotypes and the degree and activity of gastric mucosa pathological changes in pediatric gastroduodenal diseases. <b>Methods:</b> This retrospective cohort study was conducted from May 2020 to October 2020. The frozen strains of Hp, which were cultured with the gastric mucosa of 68 children with gastroscopy confirmed gastroduodenal diseases who visited the children's hospital of Zhejiang University School of Medicine from April 2012 to December 2014, were resuscitated. After extracting DNA from these Hp strains, PCR amplification and agarose gel electrophoresis were performed to determine the detection rate of cytotoxin-associated protein A (cagA),vacuolating cytotoxin A (vacA)(s1a、s1b/s2,m1/m2), outer inflammatory protein A (oipA),blood group antigen binding adhesin (babA),duodenal ulcer promoting protein A (dupA) genes; oipA genes were sequenced to determine the gene status. The patients were divided into different groups according to the findings of gastroscopy and gastric mucosa pathology. The detection rates of various virulence factor genotypes among different groups were compared using <i>χ</i>² tests or Fisher's exact tests. <b>Results:</b> The 68 Hp strains all completed genetic testing. According to the diagnostic findings of gastroscopy, the 68 cases were divided into 47 cases of superficial gastritis and 21 cases of peptic ulcer. Regarding the pathological changes of gastric mucosa, 8 cases were mild, and 60 cases were moderate and severe according to the degree of inflammation; 61 cases were active and 7 cases inactive according to the activity of inflammation. The overall detection rates of cagA, vacA, vacA s1/m2, functional oipA, babA2, and dupA virulence factor genes were 100% (68/68), 100% (68/68), 94% (64/68), 99% (67/68), 82% (56/68), and 71% (48/68), respectively. In the superficial gastritis group, their detection rates were 100% (47/47), 100% (47/47), 96% (45/47), 98% (46/47), 81% (38/47), and 70% (33/47), respectively; in the peptic ulcer group, their detection rates were 100% (21/21), 100% (21/21), 90% (19/21), 100% (21/21), 86% (18/21), and 71% (15/21), respectively. There was no statistically significant difference between the two groups (all <i>P</i>>0.05). In the mild gastric mucosa inflammation group, the detection rates of the above six genotypes were 8/8, 8/8, 8/8, 7/8, 7/8, and 5/8, respectively; and in the moderate to severe inflammation groups, the detection rates were 100% (60/60), 100% (60/60), 93% (56/60), 100% (60/60), 82% (49/60), and 72% (43/60), respectively, with no statistically significant difference between the two groups (all <i>P</i>>0.05). In the active inflammation group, the detection rate of six genotypes were 100% (61/61), 100% (61/61), 93% (57/61), 98% (60/61), 82% (50/61), and 72% (44/61), respectively; and in the inactive inflammation group, they were 7/7, 7/7, 7/7, 7/7,","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10125561","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":"[Risk factors analysis of protein energy wasting in children with chronic kidney disease].","authors":"Y Liang,&nbsp;Y P Jiang,&nbsp;H Wang,&nbsp;N Zhou,&nbsp;Q Fu,&nbsp;Y Shen","doi":"10.3760/cma.j.cn112140-20230502-00309","DOIUrl":"10.3760/cma.j.cn112140-20230502-00309","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the clinical characteristics and risk factors of protein energy wasting (PEW) in children with chronic kidney disease (CKD). <b>Methods:</b> Clinical data of 231 children with chronic kidney disease hospitalized in Beijing Children's Hospital affiliated to Capital Medical University from January 2018 to January 2023 were retrospectively analyzed to explore the incidence of PEW. According to the diagnostic criteria of CKDPEW, they were divided into a CKDPEW group and a non PEW group. The comparison between the groups was performed by independent-sample <i>t</i> test and Chi-squared test, and the risk factors were analyzed by multivariate Logistic regression. <b>Results:</b> Among the 231 children, there were 138 males and 93 females, with a visiting age of 9.9 (7.9, 16.0) years; 6 cases were in stage 1, 14 cases in stage 2, 51 cases in stage 3, 36 cases in stage 4, and 124 cases in stage 5. A total of 30 children (13.0%) with CKD PEW were diagnosed at the age of 7. 1 (3.8, 13.2) years, including 1 case in stage 1, 1 case in stage 2, 5 cases in stage 3, 5 cases in stage 4, and 18 cases in stage 5. There were a total of 201 cases (87.0%) in the non PEW group, diagnosed at the age of 11.8 (8.5, 12.2) years, including 5 cases in stage 1, 13 cases in stage 2, 46 cases in stage 3, 31 cases in stage 4, and 106 cases in stage 5. The Chi-squared test and <i>t</i> test showed that the systolic blood pressure, diastolic blood pressure, birth weight and carbon dioxide binding capacity of the CKD PEW group were lower than those of the non PEW group ((109±22) <i>vs.</i> (120±20) mmHg (1 mmHg=0.133 kPa), (72±19) <i>vs.</i> (79±16) mmHg, (2.9±0.5) <i>vs.</i> (3.2±0.6) kg, (17±4) <i>vs.</i> (19±4) mmol/L,<i>t</i>=2.85, 2.14, 0.67, 2.63, all <i>P<</i>0.05). Multivariate logistic regression analysis showed that carbon dioxide binding capacity and birth weight were independent protective factors of CKDPEW in children (<i>OR</i>=0.81 and 0.36, 95%<i>CI</i>=0.73-0.90 and 0.17-0.77, respectively; both <i>P<</i>0.01); the risk of PEW in CKD children decreased by 0.187 times for every 1 mmol/L increment in carbon dioxide binding capacity, and 0.638 times for every 1 kg increment in birth weight. <b>Conclusions:</b> The incidence of protein energy expenditure in children with chronic kidney disease is lower than that in the previous researches. PEW can appear in CKD 1-2 stage, and attention should be paid to it in the early stage of CKD in clinical practice. Low birth weight CKD children are susceptible to PEW, and actively correcting metabolic acidosis can reduce the risk of CKDPEW.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10128830","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":"[Three cases of chronic enteropathy associated with SLCO2A1 gene in children].","authors":"W H Lin,&nbsp;F F Wang,&nbsp;J Xie,&nbsp;L Ren,&nbsp;Y N Han,&nbsp;L N Sun,&nbsp;P Y Chen,&nbsp;S T Gong,&nbsp;Y Fang,&nbsp;L L Geng","doi":"10.3760/cma.j.cn112140-20230305-00160","DOIUrl":"10.3760/cma.j.cn112140-20230305-00160","url":null,"abstract":"例1及例2均因“面色苍白伴腹痛”就诊，例3因“腹痛伴粪隐血阳性”就诊。3例患儿均有腹痛、贫血、低蛋白血症，C反应蛋白及红细胞沉降率正常，内镜检查提示小肠多发环形溃疡并狭窄，其中2例手术病理示溃疡仅累及黏膜层及黏膜下层，3例均行全外显子测序示SLCO2A1纯合突变或复合杂合突变，均诊断SLCO2A1基因相关慢性肠病。3例患儿均予补铁治疗。除例1对糖皮质激素治疗依赖、对阿达木单抗治疗部分有效外，其他治疗炎症性肠病的常规药物对3例患儿均无效。例2对洗涤菌群移植治疗有效。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10130959","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":"[Non-muscle myosin heavy chain 9 gene-related disorders with thrombocytopenia: report of two pedigrees and literature review].","authors":"S T Mao,&nbsp;B Li,&nbsp;D Wang,&nbsp;S S Liu,&nbsp;S F Su,&nbsp;L L Wei,&nbsp;F Y Chai,&nbsp;Y Liu,&nbsp;Y F Liu","doi":"10.3760/cma.j.cn112140-20230329-00220","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230329-00220","url":null,"abstract":"<p><p><b>Objective:</b> To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases (MYH9-RD) in children. <b>Methods:</b> The basic information, clinical features, gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively. \"Non-muscle myosin heavy chain 9 related disease\" \"MYH9\" and \"children\" were used as key words to search at Pubmed database, CNKI and Wanfang database up to February 2023. The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized. <b>Results:</b> Proband 1 (male, 11 years old) sought medical attention due to epistaxis, the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding, the skin and mucous membrane of the their mother were prone to ecchymosis after bumping, the uncle of proband 1 had kidney damage, and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts. There were 7 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G (p.N93K) missense variant, and family verification analysis showed that the variant was inherited from the mother. A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD. The proband 2 (female, 1 year old) sought medical attention duo to fever and cough, and the father's physical examination revealed thrombocytopenia. There were 2 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that there was a c.4270G>A (p.D1424N) missense variant in the proband 2 MYH9 gene, and family verification analysis showed that the variant was inherited from the father. A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD. A total of 99 articles were retrieved, including 32 domestic literatures and 67 foreign literatures. The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patients, including 2 pedigrees in our study. There were 101 cases with complete clinical data, including 62 sporadic cases and 39 pedigrees. There were 56 males and 45 females, with an average age of 6.9 years old. The main clinical manifestations were thrombocytopenia, skin ecchymosis, and epistaxis. Most patients didn't receive special treatment after diagnosis. Six English literatures related to MYH9-RD caused by c.279C>G mutation in MYH9 gene were retrieved. Italy reported the highest number of cases (3 cases). Twelve literatures related to MYH9-RD caused by c.4270G>A mutation in MYH9 gene were retrieved. China reported the highest number of cases (9 cases). <b>Conclusions:</b> The clinical manifestations of patients in the MYH9-RD pedigrees varied greatly. MYH9 gene c.279C>G and c.4270G>A mutations are the cause of MYH9-RD.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10130964","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 on pathogenesis and treatment of neurofibromatosis type 1].","authors":"F Wu,&nbsp;X N Ji,&nbsp;Q Chen","doi":"10.3760/cma.j.cn112140-20230227-00136","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230227-00136","url":null,"abstract":"1型神经纤维瘤病（NF1）是NF1基因变异所致的常染色体显性遗传病，是常见的神经皮肤综合征之一，多于儿童期起病，临床表现包括咖啡牛奶斑、神经纤维瘤、视路胶质瘤等。NF1基因对不同信号通路调控的复杂性是其多样性临床表现的基础。随着分子生物学、遗传学的发展以及对该病认识的提高，关于NF1的研究不断取得进展。本文将综述NF1的发病机制及治疗进展，以期为其诊疗提供更多思路。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10282730","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":"[A case with tetralogy of Fallot and thymus hypoplasia found by ultrasound was eventually diagnosed as DiGeorge syndrome].","authors":"X Y Gong,&nbsp;Z H Yang,&nbsp;W Li,&nbsp;Y H Yang","doi":"10.3760/cma.j.cn112140-20230511-00328","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230511-00328","url":null,"abstract":"患儿　女，35分钟龄，因先天性心脏病入院，入院时行床旁超声发现法洛四联症合并胸腺发育不全，考虑DiGeorge综合征，住院期间基因检查证实22q11.21区域微缺失变异，确诊DiGeorge综合征。患儿行外科手术矫治心脏畸形后随访1年余，无生长发育迟缓，但存在反复感染及运动语言发育迟滞。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9916577","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}