目的 对3例儿童Rotor综合征的临床特点及SLCO1B1和SLCO1B3基因突变分析,提高儿科医生对Rotor综合征的认识。方法 收集广州市妇女儿童医疗中心2018年—2019年确诊的3例Rotor综合征患儿的临床资料,对患儿及其家系成员肝脏常见遗传代谢性疾病二代测序筛查并家系验证结果进行分析。结果 患儿主要临床表现为反复或持续巩膜和(或)皮肤轻度黄染,实验室检查提示高直接胆红素血症。二代测序发现3例患儿均为SLCO1B1基因c.1738C＞T纯合突变和SLCO1B3基因5号内含子区域大片段插入纯合突变。SLCO1B1基因和SLCO1B3基因2处纯合突变均进行了家系验证。文献报道的SLCO1B1基因c.1738C＞T突变是无义突变,可以造成蛋白功能缺失;SLCO1B3基因的大片段插入突变虽暂未有文献收录或报道,但大片段的插入突变可引起移码突变而造成编码蛋白功能丧失。结论 由于基因检测技术的不断进步,Rotor综合征不断被儿科医生所认识。SLCO1B1和SLCO1B3双基因纯合或复合杂合突变是3例Rotor综合征患儿的分子遗传基础。

Objective To better understand Rotor syndrome(RS)in children,the clinical features and SLCO1B1 and SLC01B3 gene mutations were analyzed. Methods The clinical data of the 3 pediatric cases diagnosed in Guangzhou Women and Children's Medical Center between 2018 and 2019 was collected. Genomic DNA was extracted from the children and their family members, and subjected for second-generation sequencing to screen the known genes for liver genetic metabolic diseases. Then the detected mutations were confirmed by Sanger sequencing analysis. Results The main clinical manifestations were recurrent or persistent mild yellowish sclera and/or skin. Laboratory examinations showed hyperbilirubinemia with direct bilirubin elevating. Second generation sequencing showed that all 3 children were c.1738c＞Thomozygous mutations of SLCO1B1 gene and homozygous mutations of large fragment insertion in SLCO1B3 gene intron 5. Two homozygous mutations in SLCO1B1 gene and SLCO1B3 gene were verified in families.SLCO1B1 gene c.1738C＞T mutation,a nonsense mutation reported in references,could lead to protein function loss.A large insertion mutation of SLCO1B3 gene could cause frame-shift mutation which might lead to protein function loss even though it was neither reported in the references nor recorded in SNP database. Conclusion Due to the progress in the clinical application of gene detection technology, RS has been recognized gradually by pediatricians. Homozygous mutations or compound heterozygous mutations simultaneously occurred in SLCO1B1 and SLCO1B3 gene were the molecular genetics base in these cases of RS.

目的 回顾分析2017—2018年汕头中心医院50例腹泻儿童鼠伤寒沙门菌的标本信息及药敏结果, 得出汕头地区这两年鼠伤寒沙门菌感染特性及指导临床合理用药。方法 从腹泻儿童粪便标本中分离沙门氏菌, 采用纸片扩散法检测其对抗菌药物的敏感性, 采用血清学凝集试验沙门氏菌血清型, 记录鉴定为鼠伤寒沙门菌的标本数据进行分析。结果 50例腹泻儿童鼠伤寒沙门氏菌中,易感时间多为夏秋季节;0～1岁为易感人群;感染后多出现发热、腹泻症状,可出现血便症状,较少出现呕吐;鼠伤寒沙门菌对亚胺培南、替加环素、厄他培南有100%的敏感率,对呱啦西林/他唑巴坦、头孢呱酮/舒巴坦有96%和92.68%的敏感率,队阿莫西林/克拉维酸有80.48%的敏感率,对阿米卡星、头孢呋辛酯、头孢呋辛、头孢西丁都为100%耐药,对其他抗生素有不同程度的敏感性及耐药性。结论 在夏秋季节,0～1岁儿童应加强对鼠伤寒沙门菌感染的预防,若出现发热、腹泻症状需及时就医,医生需向鼠伤寒沙门菌的方向考虑治疗,鼠伤寒沙门菌对多抗生素产生耐药性,临床上需根据药敏结果合理使用抗生素。

Objective To retrospectively analyze information and drug susceptibility of 50 cases of Salmonella typhimurium isolated from children with diarrhea in Shantou Central Hospital from 2017 to 2018, and to obtain the characteristics of Salmonella typhimurium infection in Shantou area in the past two years and to guide rational drug use in clinic. Methods Salmonella was isolated from fecal specimens of children with diarrhea. The susceptibility of Salmonella to antimicrobial agents was detected by disk diffusion method. Serological agglutination test was used to determine the serotype of salmonella. Sample data identified as Salmonella typhimurium were recorded and analyzed. Results Among the 50 children with diarrhea, the susceptibility time of Salmonella typhimurium was summer and autumn; the age of 0～1 was susceptible population; fever and diarrhea were common after infection, and hematochezia and vomiting were rare; Salmonella typhimurium had 100% susceptibility to imipenem, tegacycline and ertapenem, 96% and 92.68% to guacillin/tazobactam, cefotaxone/sulbactam. The sensitivity rate of amoxicillin/clavulanic acid was 80.48%. It was 100% resistant to amikacin, cefuroxime axetil, cefuroxime and cefoxitin. It had different sensitivity and resistance to other antibiotics. Conclusion In summer and autumn, children aged 0～1 should strengthen prevention of Salmonella typhimurium infection. If symptoms of fever and diarrhea occur, doctors should consider the direction of Salmonella typhimurium treatment. Salmonella typhimurium is resistant to multi-antibiotics, and rational use of antibiotics in clinic should be based on the results of drug sensitivity.

目的 通过对43种融合基因在儿童白血病中的结果分析,探讨融合基因阳性的儿童急性B淋巴细胞白血病(acute B-lymphoblastic leukemia,B-ALL)的免疫表型特征。方法 应用实时荧光探针PCR法对2016年10月—2018年12月在深圳市儿童医院就诊的初发或复发B-ALL患儿进行融合基因检测,采用多参数流式细胞术(flow cytometry,FCM)对B-ALL患者进行免疫表型检测。结果 120例B-ALL患儿融合基因筛选总阳性率为37.5%(45/127),包括TEL/AML1 27例、E2 A/PBX1 7例、BCR/ABL1 6例、MLL 4例、TLS/ERG 1例;不同年龄段白血病融合基因阳性率差异有统计学意义(P<0.01),性别分布差异无统计学意义(P>0.05)。各融合基因阳性组CD19阳性率为100%,TEL/AML1阳性表达患者普通-B-ALL表型占比最高(77.8%),干/祖细胞抗原CD34的阳性率为81.5%;E2 A/PBX1阳性表达患者以前-B-ALL表型为主,不表达已知的T系及髓系抗原;各融合基因阳性组及阴性组患儿髓系抗原阳性率比较差异有统计学意义(P<0.01),以BCR/ABL1基因表达组阳性率最高(100%)。结论 5种融合基因在患者年龄构成及免疫表型中具有一定的分布特点;B-ALL特征性免疫表型的改变可用于融合基因表达的预测,提高融合基因结果判读的准确率。

Objective To investigate the immunophenotype features of children with acute B-lymphoblastic leukemia(B-ALL) combined with fusion gene expressing after to analyze the results of the 43 fusion genes. Methods Real-time fluorescent probe PCR assay was used for the detection of fusion genes in 120 cases of children from Shenzhen Children's Hospital with B-ALL newly or recurrently diagnosed from Oct 2016 to Dec 2018. Multi-parameter flow cytometry(FCM) was used for the detection of the immunophenotype in children with B-ALL. Results Of all the 120 cases, the fusion genes were detected at positive rate of 37.5%(45/120), included TEL/AML1 27 cases, E2 A/PBX1 7 cases, BCR/ABL1 6 cases, MLL 4 cases, TLS/ERG 1 cases. The positive rate of leukemia fusion gene had statistically difference among fusion genes positive groups based on age(P<0.01). There was no statistically difference in the gender distribution(P>0.05). The expressing of CD19 was at positive rate of 100% in all of the groups. The rate of the common-B-ALL was the highest B-ALL subtype in the TEL/AML1 positive groups(77.8%). The stem /progenitor associated antigen CD34 was at positive rate of 81.5%. The pre-B-ALL was the main subtype in the E2 A/PBX1 group, which was no expression of the known T-ALL associated antigen MyAg antigen. There was statistically difference in the positive rate of MyAg expression among all of the groups(P<0.01), with the highest rate in the BCR/ABL1 group(100%). Conclusion There were certain distribution features in age composition and immunophenotype of children with B-ALL carrying five kinds of common fusion genes. The characteristic changes of the immunophenotype of B-ALL may be used to predict the expression of fusion genes and improve the accuracy of fusion genes by the supplementary role of immunophenotype analysis.

目的 初步探究针刺数量对小儿脑瘫肌张力及粗大运动功能的影响。方法 选取我院2017年1月—2019年11月接收的脑瘫患儿78例,以随机数表法分组,常规针刺组39例,采用一般治疗加常规针刺穴位;增穴针刺组39例,在常规针刺组治疗基础上增加13个穴位治疗。对比2组患儿三个疗程后的肌张力及粗大运动功能。结果 治疗三个疗程后,常规针刺组肌张力评分稍低于增穴针刺组,粗大运动功能量表(GMFM-88)评分稍低于增穴针刺组,但差异没有统计学意义(P＞0.05)。结论 针刺疗法可以有效辅助脑瘫患儿治疗,但是增多穴位不一定能明显改善患儿肌张力和粗大运动功能。

Objective To explore the effect of acupuncture quantity on muscle tension and gross motor function in children with cerebral palsy. Methods From January 2017 to November 2019, 78 children with cerebral palsy who were treated in our hospital were collected. 78 children with cerebral palsy were randomly divided into two groups. The conventional acupuncture group (39 cases) were treated with general treatment and conventional acupuncture points. And the more-needle acupuncture group (39 cases) were treated with adding another 13 more acupuncture points. Muscle tension and gross motor function were compared between the two groups after three courses of treatment. Results After three courses of treatment, the muscle tension score of the conventional acupuncture group was slightly lower than that of the more-needle acupuncture group, and the gross motor function scale (GMFM-88) score was slightly lower than that of the more-needle acupuncture group, but the difference was not statistically significant (P>0.05). Conclusion Acupuncture therapy can effectively assist the treatment of children with cerebral palsy, but increasing acupoints may not improve the muscle tension and gross motor function of children with cerebral palsy.

目的 分析彩色多普勒超声在小儿阴囊急症诊断中的应用价值。方法 于2019年1月—2019年12月选取院内收治的100例以阴囊急症就诊的患儿作为研究对象,使用彩色多普勒超声对所有患儿进行诊断,分析患儿的超声影像学特点,并对彩色多普勒超声的诊断结果与手术和病理结果进行对比。结果 急性睾丸扭转患儿的影像学形态以睾丸肿胀(90.63%)、阴囊壁水肿(75.00%)、鞘膜积液(68.75%)、睾丸实质回声异常(59.38%)和附睾增大(53.13%)为主,其中睾丸肿胀和睾丸实质回声异常的患儿例数明显高于其他疾病类型(P＜0.05);急性睾丸附件扭转患儿的影像学形态以睾丸外结节(96.30%)、附睾增大(74.07%%)、阴囊壁水肿(70.37%)和鞘膜积液(51.85%)为主,其中睾丸外结节的患儿例数高于其他疾病类型(P＜0.05);急性附睾炎患儿的影像学形态以阴囊壁水肿(82.61%)、附睾增大(73.91%)和鞘膜积液(52.17%)为主;急性睾丸炎患儿的影像学形态也以阴囊壁水肿(83.33%)、附睾增大(83.33%)、和鞘膜积液(55.56%)为主,急性附睾炎和急性睾丸炎患儿的影像学形态相比差异无统计学意义(P＞0.05);急性睾丸扭转患儿的睾丸内血流分布主要为减少或消失和精索扭转,与其他疾病类型患儿相比差异有统计学意义(P＜0.05);急性睾丸附件扭转患儿的睾丸内血流分布主要为正常,与其他疾病类型患儿相比差异有统计学意义(P＜0.05);急性附睾炎和睾丸炎患儿的睾丸内血流分布主要为增加,与其他疾病类型患儿相比差异有统计学意义(P＜0.05),急性附睾炎和急性睾丸炎患儿的睾丸内血流分布情况相比差异无统计学意义(P＞0.05);彩色多普勒超声在阴囊急症中的总诊断率为97%,与手术病理结果相比无差异(P＞0.05),在急性睾丸扭转中的诊断符合率为96.88%,在急性睾丸附件扭转中的诊断率为96.30%,在急性附睾炎中的诊断符合率为95.65%,在急性睾丸炎中的诊断率为100.00%,不同疾病类型阴囊急症患儿中的诊断率与手术病理结果相比均无差异(P＞0.05)。结论 彩色多普勒超声在小儿阴囊急症的诊断中发挥出了较好的临床诊断效果,在不同疾病类型阴囊急症中的诊断符合率均相对较高,应当作为小儿阴囊急症早期筛查的主要影像学方法,值得广泛应用及推广。

Objective To analyze the value of color Doppler ultrasound in the diagnosis of scrotal emergency in children. Methods From January 2019 to December 2019,100 children admitted to the hospital with scrotal emergency were selected as the research objects. All patients were diagnosed by color Doppler ultrasound and the characteristics of ultrasound imaging were analyzed. The diagnostic results of color Doppler ultrasound were compared with surgical and pathological results. Results The imaging morphology of children with acute testicular torsion was testicular swelling (90.63%),scrotal wall edema (75.00%),hydrocele (68.75%),abnormal testicular parenchymal echo (59.38%),and enlarged epididymis (53.13%) mainly. The numbers of children with testicular swelling and abnormal testicular parenchymal echo were higher than other disease types (P<0.05); the imaging morphology of children with acute testicular attachment reversal was extratesticular nodules (96.30%) and enlarged epididymis (74.07 %%),scrotal wall edema (70.37%),and hydrocele (51.85%) were predominant,and the numbers of children with extra testicular nodules were higher than other disease types (P<0.05); acute epididymis morphology of scrotal wall edema (82.61%),enlarged epididymis (73.91%),and hydrocele (52.17%) in children with inflammation are mainly; the morphology of scrotal wall edema in children with acute orchitis (83.33%) also,epididymis enlargement (83.33%),and hydrocele (55.56%) were the main factors. There was no significant difference in imaging morphology between children with acute epididymitis and acute orchitis (P> 0.05); Testicular blood flow distribution in children with acute testicular torsion was mainly reduced or disappeared and spermatic cord twisted,the difference was statistically significant compared with children with other disease types (P<0.05); blood distribution in the testis of children with acute testicular accessory torsion was mainly normal,compared with children with other disease types. The difference was statistically significant (P<0.05); the distribution of blood flow in the testis of children with acute epididymitis and orchitis was mainly increased,and the difference was statistically significant compared with children with other disease types (P<0.05). There was no significant difference in testicular blood flow distribution between children with inflammation and acute orchitis (P> 0.05);The overall diagnosis rate of color Doppler ultrasound in scrotal emergency was 97%,and there was no significant difference compared with the surgical pathological results (P> 0.05). The diagnostic coincidence rate in acute testicular torsion was 96.88%,and in acute testis, the diagnostic rate of attachment reversal was 96.30%,the diagnostic coincidence rate in acute epididymitis was 95.65%,the diagnostic rate in acute orchitis was 100.00%. Compared with the diagnosis rates and surgical pathology results in children with scrotal emergency of different disease types,there were no significant differences (P> 0.05). Conclusion Color Doppler ultrasound has a good clinical diagnosis effect in the diagnosis of scrotal emergencies in children,and the diagnostic coincidence rate in different types of scrotal emergencies is relatively high. It should be used as the main early screening for scrotal emergencies. The imaging method is worthy of wide application and promotion.

目的 运用网络药理学方法预测生白术活性成分、作用靶点及生物学意义,探讨其防治便秘的作用机制,并结合导师临床应用取得的疗效进行进一步的验证。方法 借助TCMSP在线数据库查找白术的药效成份并选择其生物利用度(OB)>30%且类药性(DL)>0.18的化合物,并查询每种成分所对应的靶标。通过Gene Cards、OMIM共2个疾病相关靶点的数据库检索便秘相关靶点信息。将二者靶基因相映射获得交集靶点。借助 cytoscape 3.7.1 软件对查询结果进行可视化。所得到的基因通过相互作用数据库(STRING)进行相互作用蛋白查询并构建蛋白质相互作用(PPI)网络。使用R语言对关键靶点行GO和KEGG富集分析,以构建“成分-靶点-信号通路”的网络。结果 共得到白术人源靶蛋白7个,便秘相关的人源基因2 859个。发现其主要通过干预PGR、CHRM3、CHRM1、ACHE、CHRM2五个基因并参与胆碱能突触、钙信号通路、肌动蛋白细胞骨架的调控、神经活性配体-受体相互作用、cAMP信号通路、PI3K-AKT信号通路共6条信号通路以达到防治便秘的效果。结论 应用网络药理学方法分析预测得到重用生白术防治便秘的潜在药效成分、作用靶点及其信号通路,为临床应用提供了理论依据。

Objective To predict the active ingredients, targets and biological significance of Atractylodes macrocephala by network pharmacology, to explore the mechanism of its prevention and treatment of constipation, and to further verify its efficacy in combination with the clinical application of tutors. Methods The constituents of Atractylodes macrocephala were searched by TCMSP database and the compounds with bioavailability (OB) > 30% and drug-like property (DL) > 0.18 were screened, and the corresponding targets of each constituent were queried. Constipation-related target information was retrieved from two disease-related target databases of GeneCards and OMIM, mapping the two target genes to obtain intersecting targets, by visualization of query results with cytoscape 3.7.1. The resulting genes were queried by the interaction database (STRING) and the protein interaction (PPI) network was constructed. GO and KEGG enrichment analysis of key targets was carried out by R language in order to construct the network of “component-target-signal pathway”. Results Seven human target proteins and 2 859 constipation related human genes were obtained from Atractylodes macrocephala. It was found that the effect of prevention and treatment of constipation was mainly achieved by interfering with five genes of PGR, CHRM3, CHRM1, ACHE and CHRM2 and participating in six signaling pathways: cholinergic synapse, calcium signaling pathway, regulation of actin cytoskeleton, neuroactive ligand-receptor interaction, cAMP signaling pathway and PI3K-AKT signaling pathway. Conclusion The potential pharmacodynamic components, targets and signaling pathways of reuse Rhizoma atractylodis macrocephalae in the prevention and treatment of constipation can be predicted by network pharmacological method, which provides a theoretical basis for clinical application.

目的 探讨肺炎支原体核糖核酸恒温扩增技术(MP RNA-SAT)对儿童社区获得性肺炎(CAP)诊治的价值。方法 选择310例CAP的临床资料进行回顾性分析,其中肺炎支原体肺炎(MPP)和非肺炎支原体肺炎各155例,比较这两组的MP RNA-SAT和MP-IgM的检测结果。结果 以临床诊断为标准,RNA-SAT的特异度(97.4%)及阳性预测值(92.2%)高于IgM(分别为72.3%、74.4%),而敏感度(30.3%)及阴性预测值(58.3%)则低于IgM(分别为80.6%、78.9%),差异有统计学意义(P＜0.05);年龄＞3岁、检测前不使用大环内酯类药物以及选择肺泡灌洗液作为检测标本均能提高RNA-SAT的检出率(P＜0.05)。结论 RNA-SAT能特异度识别出MP的活动性感染,联合使用RNA-SAT和IgM检测,能更加快速、准确地诊断MP感染,对儿童肺炎的诊治具有较高的价值。尽量在使用大环内酯类药物治疗前进行RNA-SAT检测,必要时可选择肺泡灌洗液作为检测标本以提高检出率。

Objective To investigate the value of Mycoplasma pneumoniae RNA simultaneous amplification and testing(MP RNA-SAT)in the diagnosis and treatment of community acquired pneumonia(CAP) in children. Methods The clinical data of 310 children with CAP were selected for retrospective analysis,including 155 Mycoplasma pneumonia pneumonia(MPP)and 155 non-MPP,and the results of MP RNA-SAT and MP-IgM in both groups were compared. Results With the results of clinical diagnosis as reference, the specificity (97.4%)or positive predictive value (92.2%)by RNA-SAT was higher than that by IgM (72.3% and 74.4%, respectively), while the sensitivity (30.3%)or negative predictive value (58.3%)was lower than that by IgM (80.6% and 78.9%, respectively).The difference was statistically significant (P<0.05). Age>3 years, no macrolide treatment before testing, or choosing bronchoalveolar lavage fluid as testing samples, that can improve the detection rate of RNA-SAT(P<0.05). Conclusion RNA-SAT may specifically identify active infection of MP, and the combined use of RNA-SAT and IgM test may more quickly and accurately diagnose infection of MP.It has high value for the diagnosis and treatment of community acquired pneumonia in children. RNA-SAT should be performed before the application of macrolide treatment as early as possible. If necessary, bronchoalveolar lavage fluid could be chosen as testing samples to improve the detection rate of RNA-SAT.

目的 探讨雷火灸对于小儿下元虚寒型遗尿症的临床疗效。方法 采用回顾性分析,将60例遗尿症患儿随机分为治疗组和对照组各30例,对照组给予基础治疗(包括调整作息饮食、膀胱功能锻炼、反射训练等),治疗组则在基础治疗外给予雷火灸温灸小腹部及温阳补肾的相应穴位,两组均连续治疗3周。比较两组治疗前后每周遗尿天数、每天遗尿次数、每天的睡眠深度及中医症候积分变化,观察两组临床疗效及6个月后的复发率。结果 治疗组使用雷火灸治疗小儿遗尿症的总有效率96.67%高于对照组的总有效率76.67%,治疗组中医症候积分减少优于对照组,治疗后6个月治疗组的复发率为10.34%,少于对照组,差异均有统计学意义(P<0.05)。结论 雷火灸能有效减少下元虚寒型遗尿症患儿的遗尿次数,疗效显著,值得临床推广应用。

Objective To investigate the clinical efficacy of treating kidney deficiency-cold syndrome enuresis children with thunder-fire moxibustion. Methods 60 cases were randomly divided into a control group of 30 cases and a treatment group of 30 cases. Patients in the control group were treated with basic treatment (including adjusting diet, bladder function exercise, reflex training and so on); while patients in the treatment group were treated with thunder-fire moxibustion,three weeks for treatment. The research was aimed at assessing the clinical effect of the two groups,observing the number of enuresis days per week, the number of enuresis times per day,the sleep depth per day and the change of TCM symptom score, and recording the recurrence rate after 6 months of treatment. Results The clinical efficacy of treatment group was better than that of the control group,and the efficiency was 96.67%,which was higher than that of the control group 76.67%,and the TCM symptom score of the treatment group decreased than that of the control group, both of the differences were statistically significant (P< 0.05). The recurrence rates at 6 months after treatment was 10.34% respectively,which were lower than those in the control group(P＜0.05). Conclusion The therapy has good effect,it can reduce the number of enuresis times and has low recurrence.

目的 本研究观察应用鼻喷激素联合白三烯受体拮抗剂在腺样体肥大患儿中治疗的效果。方法 选择2016年2月—2018年3月期间在广州市某区妇幼保健院耳鼻咽喉科确诊腺样体肥大的患儿,在患儿及家长知情同意的基础上,按照随机数字表法将87例耳鼻咽喉科诊断为腺样体肥大的儿童分为研究组和对照组。前者给予鼻喷激素联合白三烯受体拮抗剂进行治疗,后者独立使用白三烯受体拮抗剂进行治疗,比较两组患儿的临床治疗效果和不适症状的改善程度。结果 研究组腺样体肥大患儿临床症状得分小于对照组,优于对照组的治疗效果,差异有统计学意义(P＜0.05);且对比对照组,研究组患儿经鼻呼吸困难、入睡时打鼾、鼻部阻塞感等不适症状明显减轻。结论 鼻喷激素联合白三烯受体拮抗剂治疗儿童腺样体肥大,临床症状改善较为明显,具有经济性,家属及患儿接受度较高,相比手术创伤小,在基层医院推广有一定的价值。

目的 分析小儿葫芦散应用于儿童喘息性支气管炎中的治疗效果。方法 在我院2015年8月—2018年12月诊治的喘息性支气管炎患儿中选取68例,并严格按照系统随机分配原则分为对照组和观察组,各34例。其中对照组采用常规治疗,观察组采用小儿葫芦散治疗,观察对比两组患儿治疗效果和临床症状消失时间。结果 对照组总有效率为76.47%,观察组总有效率为94.12%,对照组总有效率低于观察组,且对照组临床症状消失时间均长于观察组,差异有统计学意义(P<0.05)。结论 小儿葫芦散应用于喘息性支气管炎患儿中具有显著疗效,进一步改善肺功能情况,促进患儿康复,值得推广。