目的 分析宏基因二代测序(metagenomics next-generation sequencing,mNGS)技术在儿童发热血流感染中的诊断价值,并为临床合理调整治疗方案提供依据.方法 选择2019年1月-2020年3月在海口市人民医院儿科住院治疗的25例临床疑似血流感染的患儿,分别留取标本进行血培养和mNGS病原体检测.比较两种技术的病原体检出结果及阳性率.结果 25例患儿中,血培养检测平均报告时间为3.7 d,检出病原体阳性1例,阳性率为4.0％;mNGS病原检测平均检出报告时间2.3 d,检出病原体阳性13例,阳性率为52.0％,差异有统计学意义(P＜0.05).血培养检出病原体1种,mNGS检出病原体16种,mNGS检出的病原体种类和数量明显高于传统病原学检测.在mNGS检测出阳性的13例患儿中,单一病原体感染6例,多重病原体感染7例,经结合患儿人院前后诊疗情况,采信其中10例结果,维持或调整抗感染治疗方案;另外3例患儿检出不同种类的真菌,考虑与临床表现及相关检查不符,不予采纳检测结果,遂未加用抗真菌药物予以治疗.13名患儿经过积极综合治疗,均痊愈出院.结论 宏基因二代测序有助于协助部分发热儿童血流感染的病原学诊断.

目的 探讨多萜醇磷酸甘露糖基转移酶1(DMP1)基因变异致先天性糖基化障碍Ie型(CDG-Ie)合并先天性肌营养不良表型的临床表现及基因变异.方法 回顾分析1例CDG-Ie型合并先天性肌营养不良表型患儿的临床资料及基因检测结果.结果 男性患儿,1月龄即发现头围小,随后有智力、运动发育迟缓、小头畸形、癫痫性脑病、肌力和肌张力减弱、双足挛缩、扁鼻梁、小下颌、双眼上斜、追光差等表现,血清肌酸肌酶升高.头颅磁共振示脑萎缩,脑外间隙弥漫性增宽,脑内髓鞘化明显偏弱.脑电图为暴发-抑制改变.基因测序显示患儿DPM1基因存在复合杂合变异,c.669-3 C>G和c.677 G>T;家系分析提示c.669-3 C>G来自母亲,c.677 G>T来自父亲.确诊为CDG-Ie.结论 CDG-Ie是CDG的罕见类型,常合并先天性肌营养不良表型,早期基因检测有助明确诊断.

Objective:To disuss the diagnosis and treatment of severe atrioventricular block resulted from myocarditis in pediatrics. Methods: 2 pediatric patients with serious atrioventricular block resulted from myocarditis were treated with 1-3 months follow-up. Results: One case was cured and the other showed improvement. Conclusion: Once a patient was confirmed by electrocardiogram (ECG) as severe atrioventricular block, medication should be applied in time and if necessary, temporary pacemaker installment as well.

Objective To study the clinical situation of hematuria caused by pharyngo-conjunctival fever, ascertain if hematuria is one of the common clinical manifestations of pharyngo-conjunctival fever and explore the relationship between the early and/or late occurrence of hematuria and the condition and course of the disease. Methods All the 52 patients were divided into treatment group and control group. The treatment group consisted of 22 cases and those with calculus lithiasis, tuberculosis, tumor, glomrulonephritis and other illnesses were excluded and the control group consisted of 30 feverish child patients due to other causes and their general conditions and causes of illness were the same as those in the treatment group. Results Significant differences were observed between the two groups and the incidence of hematuria in the treatment group was over 86.3% obviously higher than that of 6.7% in the control group (P0.01). The incidence of fever, congestion in the pharynx and conjunctiva, swelling tonsil, hematuria, etc. in the treatment group was over 86.3%, while the incidence of other manifestations and signs was below 36.4%. No significant difference was observed in the incidence of hematuria as compared with that of other typical clinical manifestations of pharyngo-conjunctival fever (P0.05). Significant difference was observed in incidence of hematuria as compared with those with general clinical manifestations (P0.01). Hematuria occurred to six patients in the treatment group in three days with a duration of over five days and course of about seven days and a temperature of between 39～41℃. Hematuria was occurred to rest 13 child patients the after three days with a temperature of between 38～39.5℃ lasted two to three days and course of illness of about five days. Conclusion Hematuria is one of the common clinical manifestations of pharyngo-conjunctival fever and the early and/or late occurrence of hematuria is closely associated with the course and clinical manifestation of pharyngo-conjunctival fever.

反复腹痛是儿科常见的临床症状,病因复杂,病情迁延反复,多以急性发作就诊,影响儿童的生活、学习,明确病因诊断是获得良好疗效的关键.为探讨反复腹痛与上消化道疾病的关系,本院2000年1月～2002年1月对42例反复腹痛病人进行胃镜检查,现报告如下.