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目的提高对小儿肺炎支原体(MP)肺炎的临床认识和诊治水平。方法对2005-09—2006-05间106例确诊为MP肺炎住院患儿的临床特点进行总结和分析。结果发病年龄多为学龄儿童,613岁占49.1%。持续发热伴刺激性咳嗽的患儿占93.4%,早期无明显阳性体征。MP痰培养阳性率低,仅为6.6%。但用颗粒凝集法检测血清MP-IgM阳性率高(92.5%)。外周血白细胞大多正常(占71%),但血沉(85.0%)及CRP(52.0%)都升高。胸片以一侧大片絮状阴影为多见,占88.7%,右侧(57.6%)多于左侧,下叶(72.3%)多于中上叶。35例(33.0%)有肺外合并症,伴有渗出性胸膜炎者占39.4%,此外尚有贫血、肝损害等。所有病例用红霉素、阿奇霉素治疗效果良好,尚未发现耐药情况。结论小儿MP肺炎好发于学龄儿童,颗粒凝集法检测血清Mp-IgM阳性率高,利于早期诊断。     

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本文对1998年8月至2005年1月本院收治的26例小儿颅内蛛网膜囊肿(IAC)患儿的治疗进行了6个月至7年的随访观察,现报道如下。临床资料:26例中男22例,女4例,年龄7个月至16岁,平均4岁。首发症状表现有抽搐17例,其中1例表现为惊厥持续状态,抽搐伴有发热10例,发热伴头痛、呕吐6例,伴眩晕1例;口角歪斜1例,走路不稳1例。26例均行头颅CT扫描,表现为界限清、密度均匀的低密度影,与脑脊液密度完全一致,CT值为5~20Hu,增强CT扫描无强化现象。左半球14例,右半球6例,枕大池6例。囊肿体积最小为1·0cm×0·8cm×0·8cm,最大为5·5cm×4·8cm×3·0cm。其…     

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目的了解哮喘患儿停药后呼吸功能状态。方法对采用吸入糖皮质激素治疗达到临床控制后停药3年的哮喘患儿进行哮喘控制测试(ACT)、肺功能和呼出气一氧化氮(FENO)检测,采用问卷调查、肺功能、FENO3种方法,对2011年1月至2011年8月在中国医科大学盛京医院就诊的84例接受吸入糖皮质激素治疗、哮喘达到临床控制,并已停药3年的哮喘患儿进行检测。结果在84例哮喘患儿中,第1秒用力呼气容积与用力肺活量的比值(FEV1/Vcmax)>80%的患儿60例,占71.4%,FEV1/Vcmax<80%的患儿24例,占28.5%;在84例哮喘患儿中,FENO<20ppb者占35.7%,FENO>20ppb者占64.2%。结论经吸入糖皮质激素系统治疗后停药3年,哮喘患儿肺功能多在正常范围内,但仍存在慢性气道炎症。     

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??Objective??To detect pathogenic genes of short stature with unknown etiology by a targeted next generation sequencing panel to analyze the correlation between genotypes and clinical phenotypes. Methods??A total of 77 children diagnosed with unexplained short stature were enrolled for the study. These children were treated in Ruijin Hospital of Shanghai Jiao Tong University from 2007 to 2015. To search for genetic variation in 187 candidate genes which were associated with growth?? we constructed a targeted next generation sequencing panel encompassing the coding regions of 187 genes. According to ACMG Guidelines??the sites of variation were determined. Sanger sequencing was used to verify the suspected pathogenic genes variation. The relationship between genotype and clinical phenotype was analyzed. Results??Including 5 pathogenic variants?? one likely pathogenic variant and one variant of uncertain significance?? we identified 7 heterozygous variants of 7 cases in 77 cases of short stature with unknown etiology. A pathogenic variant p.D2407fs of ACAN gene was found in a case with advanced bone age. There were 3 reported pathogenic variants?? including p.A72G?? p.I282V and p.P491S of PTPN11 gene?? which were diagnosed as Noonan syndrome. A case carrying known pathogenic variant COL2A1??p.R904C?? was diagnosed as Stickler syndrome. We still got one likely pathogenic variant COMP??p.D401N???? which could cause multiple epiphyseal dysplasia. There was a familial short stature of delayed bone age carrying a variant??p.S289Y?? of uncertain significance??in which the genotype was in accordance with the clinical phenotype. Conclusion??The ACAN gene defection is associated with the idiopathic short stature with advanced bone age. The likely pathogenic variant COMP??p.D401N?? may cause multiple epiphyseal dysplasia. The newly-found heterozygous varians??p.S289Y?? of GHSR gene may result in short stature??which needs further function verification.     

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??Objective To study the efficacy and safety of Azithromycin and that of Erythromycin for respiratory Mycoplasma infection in children. Methods All RCTs about Azithromycin and Erythromycin for Mycoplasma pneumonia were searched in PubMed??Embase??Cochrane Library?? CNKI??VIPH??Wanfang database??etc??until Feb??2012. We included the RCTs that compared Azithromycin with other medicine in the treatment of respiratory Mycoplasma infection in children.The quality evalutions were under the Cochrane Handbook 5.0.2?? and the data were combined quantitatively by RevMan 5.0 software. Results There were 4 RCTs concluded. Three researches were to compare “Azithromycin oral VS Erythromycin oral”. One research was to compare “Azithromycin oral VS Erythromycin ivgtt”. Totally 538 children?? Azithromycin oral group 319?? control group 219. The Meta-analysis results showed that the clinical response conditions were as follows: the clinical response of “Azithromycin oral group” was better than “Erythromycin oral group” during the period ≤15 days or ≥1 month??there being no statistical difference between “Azithromycin oral group” and “Erythromycin ivgtt group” during the period ≤15 days after the treatment. Adverse effects: compared with “Erythromycin oral”and “Erythromycin ivgtt” group?? the children in the “Azithromycin oral”group suffered less diarrhea and/ or vomiting after the treatment??OR = 0.22??95%CI:0.11??0.43??OR = 0.23?? 95%CI:0.12??0.42??. Conclusion In the treatment of respiratory Mycoplasma infection in children?? the clinical effect of oral Azithromycin is better than that of oral Erythromycin during the period ≤15 days or ≥1 month?? while the former effect is of no statistical difference from Erythromycin ivgtt. Adverse reactions: compared to erythromycin oral or ivgtt??the patients in Azithromycin oral group tend to have less diarrhoea and/ or vomiting. All in all??Azithromycin is a good choice for the treatment of respiratory Mycoplasma infection in children.     

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??Abstract?? Objective To summarize the clinical features of hepatic glycogen storage disease to improve the diagnosis and treatment and decrease the possibility of misdiagnosis. Methods Twelve cases of hepatic glycogen storage disease in Shengjing Hospital from May, 2007 to November, 2013 were analyzed retrospectively and followed up. Results Two cases were misdiagnosed in the 5 final diagnosed cases at first treatment. Liver dysfunction and growth retardation are the main symptoms, 2 cases with low blood glucose and 3 cases with jaundice??4 cases were screened positive result for epinephrine stimulating test. Two time of follow-up confirmed these cases still suffered from hepatomegaly and splenomegaly, liver dysfunction, growth retardation, etc. In suspected diagnosed group,only 1 case was screened positive result for epinephrine stimulating test. Conclusion The clinical manifestations of hepatic glycogen storage disease are multiple. Therefore, physicians should have sufficient recognition for this disease and give a right and prompt diagnosis based on family history, physical examinations and laboratory findings.     

Effects of COVID-19 vaccination on platelet counts and bleeding in children,adolescents, and young adults with immune thrombocytopenia

Coronavirus disease 2019 (COVID-19) vaccines rarely cause de novo immune thrombocytopenia (ITP) but may worsen preexisting ITP in adults. Whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines impact platelet counts and bleeding in children, adolescents, and young adults (C-AYA) with preexisting ITP is unknown. We report here the very limited effect of COVID-19 vaccination on platelet counts and bleeding in a single-center series of 2 C-AYA with ITP. No patient experienced worsening bleeding and only one child had a significant decrease in platelet count which improved spontaneously to her baseline without intervention. SARS-CoV2 vaccination was safe in C-AYA with ITP in this small cohort.     

High-dose intravenous immunoglobulin therapy in neonatal immune haemolytic jaundice

A controlled study was conducted to assess the role of high-dose i.v. immunoglobulin (HDIVIG) therapy in neonatal immune haemolytic jaundice. Patients with ABO and/or Rh incompatibilities proved by significant hyperbilirubinaemia (>204 mmol l(-1)), positive direct antiglobulin test and high reticulocyte count (> or =10%) were randomly assigned to receive either conventional phototherapy alone or phototherapy with high-dose i.v. immunoglobulin (1 g kg(-1), over 4 h) as soon as the diagnosis was established. Exchange transfusions were performed if serum bilirubin concentrations exceeded 290 mmol l(-1) and increased by more than 17 mmol l(-1) per h despite both treatment manoeuvres. Eight of 58 patients in the HDIVIG group required exchange transfusions, whereas it became necessary in 22 of 58 patients in the control group (p<0.001). The durations of phototherapy and hospitalization in terms of hours were significantly shorter in the HDIVIG group (p<0.05). No side effects of HDIVIG therapy were observed. In conclusion, HDIVIG therapy in newborns with ABO or Rh haemolytic diseases reduces haemolysis, serum bilirubin levels and the need for blood exchange transfusion, a procedure which has potential complications and carries a risk of mortality.     

川崎病丙种球蛋白无反应型易感基因研究

目的应用靶向测序技术探索川崎病(KD)丙种球蛋白无反应易感基因,筛选KD高危人群。方法选择2016年12月至2018年10月收治的190例KD患儿,其中静脉注射丙种球蛋白(IVIG)无反应33例、敏感151例,以及99例健康儿童。采集外周静脉血全基因组DNA,采用靶向捕获测序技术,分析比较基因差异位点。结果 KD患儿和健康儿童之间FCGR3A(rs77144485)、IL15RA(rs2228059)、IL-6(rs13306435)基因型的差异均有统计学意义(P0.05)。IVIG无反应和敏感KD患儿之间,在位于IL-2RB、IL-24、BMPR1A、GZMB、KDR、KIR2DS4、CARD11、CHUK等基因区域的10个单核苷酸多态性位点的基因型频率差异有统计学意义(P均0.05)。结论靶向捕获测序技术初步筛选出IL-2RB、IL-24、BMPR 1 A、GZMB、KDR、KIR 2 DS 4、CARD 11、CHUK等KD丙种球蛋白无反应型易感基因。     

静脉注射人免疫球蛋白在新生儿感染性疾病中的应用

静脉注射人免疫球蛋白(intravenous immunoglobulin,IVIG)是含有多价抗原特异性的IgG抗体,具有广谱抗病毒、细菌及其他病原体等多种功能。新生儿特别是早产儿体内IgG水平低,容易发生各种类型的感染,IVIG能迅速提高血液中IgG水平,增强机体抗感染和免疫调节功能,作为一种常规的辅助治疗措施,在...