Features of intestinal flora in children with food protein-induced proctocolitis based on high-throughput sequencing北大核心CSCD

目的 通过高通量测序分析食物蛋白诱导性直肠结肠炎（food protein-induced proctocolitis,FPIP）患儿肠道菌群特征。 方法 选取2018年10月至2021年2月遵义医科大学第三附属医院门诊就诊的小于6月龄纯母乳喂养发生FPIP患儿31例纳入FPIP组,正常健康婴儿31例纳入健康对照组;采集两组粪便样本提取DNA并通过PCR扩增,采用高通量测序分析粪便样品中的16S rDNA V3~V4片段并进行相关生物信息学分析。 结果 肠道菌群多样性分析示FPIP组菌群多样性Shannon指数低于健康对照组,但差异无统计学意义（P>0.05）;菌群丰富度Chao指数高于健康对照组（P<0.01）。在门水平上,两组菌群组成均主要由厚壁菌门、放线菌门、变形菌门、拟杆菌门4个菌门构成;与健康对照组相比,FPIP组中放线菌门构成比显著降低（P<0.001）,变形菌门构成比明显增加（P<0.05）。在属水平上,FPIP组主要由大肠埃希氏菌属、梭状芽孢杆菌属、肠球菌属、克雷伯氏菌属和双歧杆菌属组成;健康对照组主要由双歧杆菌属、链球菌属组成;与健康对照组相比,FPIP组中双歧杆菌属和瘤胃球菌属构成比明显降低（P<0.05）,梭状芽孢杆菌属和志贺氏菌属构成比明显增加（P<0.05）。 结论 FPIP组与健康对照组相比,肠道菌群多样性下降,丰富度升高;在菌群组成结构上某些细菌菌属存在差异。提示在FPIP的发生发展过程中,肠道微生物群在属水平上的构成改变可能起到了重要作用。     

TTN基因突变致儿童扩张型心肌病的研究进展北大核心CSCD

编码肌联蛋白(titin)的TTN基因突变是扩张型心肌病(dilated cardiomyopathy,DCM)遗传病因中最常见的突变类型。该文就当前国内外对TTN基因突变导致儿童DCM可能的分子发病机制(转录、翻译后修饰等)、临床表型及基因治疗等研究做一总结,以期为今后精准治疗TTN基因突变导致的儿童DCM提供参考。     

MYH7基因突变致儿童肥厚型心肌病的研究进展北大核心CSCD

肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是儿童中最常见的单基因遗传性心肌病。肌节基因[β-肌球蛋白重链(cardiac beta-myosin heavy chain,MYH7)、MYBPC3等基因]突变是HCM最常见的遗传学病因,其中以MYH7基因突变最常见,占30%~50%。MYH7基因突变具有受环境因素影响、可合并多个基因变异,以及年龄依赖的外显率等特点,使患儿临床表型不一或重叠,包括多种心肌病和骨骼肌疾病。目前关于MYH7基因突变导致儿童HCM的发病机制、病程及预后尚不明确。该文通过总结MYH7基因突变导致HCM可能的发病机制、临床表型及治疗,以期有利于患儿的精准预后评估、个体化管理及治疗。     

MYH7基因变异相关儿童心肌病表型与基因型特点的回顾性分析北大核心CSCD

目的分析MYH7基因变异相关儿童心肌病(cardiomyopathy,CM)的临床表型及基因型特点。方法回顾性分析河北省儿童医院心内科诊治的5例MYH7基因变异所致CM患儿的临床资料。结果5例CM患儿中,女3例,男2例,均存在MYH7基因变异,共检出7种变异位点,其中5种为未报道变异。肥厚型心肌病3例,扩张型心肌病和致密化不全型心肌病各1例。首诊年龄为6~156个月。首诊咳嗽、呼吸急促、吃奶欠佳、口唇发绀等心力衰竭表现2例,均伴生长发育落后;心悸、黑蒙、晕厥1例;发热、流涕伴肝功能异常1例;5例均有活动耐力减低。5例均接受改善心功能药物治疗,随访7~24个月,均存活。结论MYH7基因变异所致CM患儿起病年龄不一,首诊时多缺乏特异性临床表现,可出现肥厚型心肌病、扩张型心肌病或致密化不全型心肌病表型。早期进行基因诊断和药物干预的患儿短期内预后良好。     

SRCAP基因变异致扩张型心肌病1例家系分析并文献复习

目的分析SRCAP基因变异致扩张型心肌病(DCM)家系基因型与临床表型的相关性。方法回顾分析1例特发性DCM患儿的临床资料,利用全外显子测序技术检测致病基因,以Sanger测序验证,利用I-TASSER软件预测致病基因对蛋白质结构及功能的影响。结果患儿男性,16月龄,临床特征为反复呼吸道感染、心肌酶高、心肌收缩力减低、高乳酸血症、语言发育落后,无恶性心律失常。全外显子测序发现SRCAP c.452-453del,pPhe151Cysfs*71基因变异,为新发杂合变异,常染色体显性遗传,以往未有报道。SRCAP基因第151位半胱氨酸在不同物种之间具有高度保守性。I-TASSER软件预测野生型蛋白质3230残基,变异体蛋白质220残基;亲疏水性分析野生型亲水性Sum(求和)(5:3226)=-1449.44,变异体亲水性 Sum(求和)(5:216)=-126.55。结论SRCAP基因c.452-453del(pPhe151Cysfs*71)变异可导致肽链合成提前终止、蛋白质结构截短及亲疏水性发生明显改变,结合患儿临床表型此变异可能是DCM新发现的致病变异。     

Clinical and laboratory results of 270 children with infectious mononucleosis北大核心CSCD

Objective To summarize the clinical and laboratory characteristics of infectious mononucleosis (I M) in children. Methods Clinical features and laboratory results of 270 cases with IM admitted to the Department of Pediatrics in Strategic Support Force Medical Center of People's Liberation Army from January 2012 to December 2020 were retrospectively analyzed. χ2 test was used for comparison between groups. Results IM mainly occurred in children aged 5 months to 18 years old in autumn and spring. The highest incidence rate (105 cases, 38.9 %) was 3 - <6 years old (preschoolers). There were 253 cases (93.7%) with fever, 266 cases (98.5 %) with adenopharyngitis, 196 cases (72.6%) with tonsil pseudomembrane or exudation, 248 cases (91.9%) with cervical lymphadenopathy, 92 cases (34.1%) with eyelid edema, 202 cases (74.8%) with nasal obstruction, 124 cases (45.9%) with nasal obstruction and snoring, 24 cases (8. 9 %) with rash, and 112 cases (41.5%) with splenomegaly. A total of 225 cases (83.3%) presented with typical triplets of IM (fever, adenopharyngitis and cervical lymphadenopathy). Sixty - two IM patients were complicated with pulmonary infections and 3 cases with diarrhea. The main co - infection pathogens in children with IM were Mycoplasma pneumonia (M P) (79 cases, 29.3%), influenza A or B virus (34 cases, 12.6%), Streptococcus pneumonia (S P) (18 cases, 6.7%), adenovirus (22 cases, 8.1%) and cytomegalovirus (3 cases, 1.11%). A total of 46 cases (17.0%) had multiple infections. Laboratory test results suggested that absolute lymphocyte count 5. 0 x 109/L was found in 199 cases (73.7%), and abnormal lymphocyte ratio > 0.10 was found in 225 cases (83.3%). Some children had elevated transaminase levels. Epstein - Barr virus capsid antigen - immunoglobulin M (EBV - VCA - IgM) was positive in 249 cases (92.2%), Epstein - Barr virus capsid antigen - immunoglobulin G (EBV - VCA - IgG) was positive in 238 cases (88.1%), and Epstein - Barr virus nuclear antigen - immunoglobulin G (EBV - NA - IgG) was negative in all cases. EBV - VCA - IgG showed low affinity in all cases (< 40%). EBV DNA tests of peripheral blood plasma were carried in 153 cases, of which 118 cases (77.1%) were positive. Conclusions EBV related IM mainly attacks preschoolers. Most patients are presented with typical triplets of IM. Eyelid edema, nasal obstruction, snoring, splenomegaly and elevated transaminase levels are prevalent in IM children. Most cases have a favorable prognosis. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

Efficiency of Rituximab in treating children with refractory nephrotic syndrome北大核心CSCD

目的评价利妥昔单抗(RTX)在难治性肾病综合征患儿中维持缓解的有效性。方法回顾性研究。将2018年11月至2020年11月华中科技大学同济医学院附属武汉儿童医院肾内科诊断为难治性肾病综合征的22例患儿纳入研究, 予RTX治疗。外周血中CD19+B淋巴细胞≥1%总淋巴细胞者追加1剂RTX(375 mg/m2), 每例患儿使用3~4剂, 早期停用钙调神经磷酸酶抑制剂(CNI), 后续使用霉酚酸酯治疗。采用Kaplan-Meier法对RTX治疗后患儿的蛋白尿无复发率和无频复发肾病综合征或激素依赖肾病综合征发生率进行分析, 采用Wilcoxon秩和检验对使用RTX前后的复发次数进行分析。采用秩和检验对RTX治疗前后患儿的体质量指数(BMI)及身高进行比较。结果 22例患儿中, 20例患儿完成治疗方案, 1年和2年的蛋白尿无复发生存率分别为85%和40%, CNI停用后复发频率降低。所有患儿BMI及身高在使用RTX治疗前与使用RTX 1年后、2年后比较, 差异均有统计学意义(均P<0.05), 使用RTX后1、2年比较, 差异均无统计学意义(均P>0.05)。结论使用RTX在停用激素和其他免疫抑制剂情况下也可有效降低难治性肾病综合征的复发率, 同时可使患儿BMI及身高得到明显改善。RTX治疗难治性肾病综合征患儿安全有效。     

Clinical feature analysis of subdural effusion/hematoma after shunt use of adjustable valves in children with hydrocephalus北大核心CSCD

Objective To analyze the clinical data of children with hydrocephalus suffering from subdural effusion/hematoma after shunt(SEHS) with adjustable valves, and to provide reference for postoperative follow - up. Methods A total of 102 children with hydrocephalus treated with adjustable valves in the Department of Neurosurgery, Wuhan Children's Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from August 2017 to September 2021 were enrolled and studied retrospectively. There were 16 cases with SEHS, 11 of whom were male and 5 were female. The age ranged from 3 months to 13 years (median;2. 5 years). The age, clinical manifestations, the time of SEHS occurrence, treatment methods (pressure regulation only or combined with drilling and drainage), and prognosis of the patients were analyzed. The pressure adjustment treatment was to increase the by 10-20 mmH2O (1 mmH2O =0.0098 kPa) each time and the patients were followed up 2-4 weeks after the adjustment. If SEHS didn't improve according to the follow - up results, pressure regulation combined with drilling and drainage was recommended. Results Of the 16 patients with SEHS, 3 cases were over 3 years old, and the other 13 cases were 3 years old or below. Eleven cases were treated by pressure regulation only, and 5 cases who were all aged 3 years received pressure regulation combined with drilling and drainage. Symptoms occurred in 2 patients, including vomiting in 1 case, and head and limb shaking in the other case. Fourteen cases were asymptomatic. The time from shunt operation to the occurrence of SEHS was 1 month in 5 cases, who were all cured by pressure regulation only. SEHS occurred in 5 cases > 1-3 months after shunt surgery, and 2 cases of them were treated by pressure regulation combined with drilling and drainage. Three cases had SEHS > 3-6 months after shunt surgery, and 1 case of them was treated by pressure regulation combined with drilling and drainage. SEHS occurred in 3 cases more than 6 months after shunt surgery, and 1 case of them was treated by pressure regulation combined with drilling and drainage. For the patients who received pressure regulation combined with drilling and drainage, the time from shunt operation to the occurrence of SEHS was 1 month and 21 days, 2 months and 7 days, 4. 5 months, 7. 5 months, and 25. 0 months, respectively. The time from the occurrence of SEHS to the last reexamination with no SEHS detected was 1 month in 7 cases (all were cured by pressure regulation only); >1-3 months in 5 cases (3 cases were treated by pressure regulation combined with drilling and drainage); more than 3 months in 4 cases (2 cases were treated by pressure regulation combined with drilling and drainage). For the patients who received pressure regulation combined with drilling and drainage, the time from the occurrence of SEHS to the last reexamination with no SEHS detected was 1 month and 14 days, 2. 0 months, 3. 0 months, 7. 0 months and 8. 0 months, respectively. Except for 2 cases who experienced pressure regulating valve failure, all other cases were cured. Six cases were unilateral SEHS, and the SEHS volume was about 11 to 75 mL (median;39. 0 mL). Ten cases were bilateral SEHS, and the SEHS volume was about 23-380 mL (median; 158. 2 mL). The 6 cases were all cured by pressure regulation, and 5 cases of them had SEHS at the shunt tube insertion side. Conclusions SEHS in children with hydrocephalus is generally asymptomatic and rarely causes clinical symptoms. SEHS mostly occurs within 6 months after operation, especially within 3 months. SEHS found in 1 month after surgery can be cured by increasing the shunt valve pressure only. Therefore, SEHS can be cured by pressure regulation only by shortening follow - up and identifying SEHS early after shunt operation. This will also reduce the probability that patients require the drilling and drainage operation. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

Clinical features of children with colorectal polyps and the efficacy of endoscopic treatment: an analysis of 1 351 cases北大核心CSCD

Objective To study the clinical features of children with colorectal polyps and the efficacy of endoscopic treatment. Methods A retrospective analysis was performed on the medical data of 1 351 children with colorectal polyps who were admitted and received colonoscopy and treatment in the past 8 years, including clinical features and the pattern and outcomes of endoscopic treatment. Results Among the 1 351 children, 893 (66.10%) were boys and 981 (72.61%) had an age of 2-<7 years, and hematochezia (1 307, 96.74%) was the most common clinical manifestation. Of all the children, 89.27% (1 206/1 351) had solitary polyps, and 95.77% (1 290/1 347) had juvenile polyps. The polyps were removed by electric cauterization with hot biopsy forceps (6 cases) or high-frequency electrotomy and electrocoagulation after snare ligation (1 345 cases). A total of 1 758 polyps were resected, among which 1 593 (90.61%) were pedunculated and 1 349 (76.73%) had a diameter of <2 cm. Postoperative complications included bleeding in 51 children (3.77%), vomiting in 87 children (6.44%), abdominal pain in 14 children (1.04%), and fever in 39 children (2.89%), while no perforation was observed. The children aged <3 years had the highest incidence rates of postoperative bleeding and fever (P<0.0125), and the children with a polyp diameter of ≥2 cm had significantly higher incidence rates of postoperative bleeding, vomiting, and fever (P<0.05). Conclusions Solitary polyps, pedunculated polyps, and juvenile polyps are common types of pediatric colorectal polyps. Electric cauterization with hot biopsy forceps or high-frequency electrotomy and electrocoagulation after snare ligation can effectively remove colorectal polyps in children, with good efficacy and few complications. Younger age and larger polyp diameter are associated with a higher risk of postoperative bleeding. © 2022 Xiangya Hospital of CSU. All rights reserved.     

Clinical efficacy of combined therapy in children with stage 4 neuroblastoma北大核心CSCD

目的 观察4期神经母细胞瘤联合治疗的早期疗效,探讨提高生存率及改善生活质量的治疗方案。 方法 对2016年1月至2021年6月在香港大学深圳医院确诊的14例4期神经母细胞瘤患儿的临床资料、治疗及随访情况进行回顾性分析。 结果 14例患儿中位发病年龄为3岁7.5个月。骨髓检查阳性9例,N-Myc基因扩增4例,神经元特异性烯醇化酶增高13例,尿香草扁桃酸增高7例。病理结果：分化型6例,未分化型1例,混合型1例,分化差型6例。N7方案化疗10例（含2例N7方案+三氧化二砷化疗患儿）,Rapid COJEC方案化疗4例。手术13例;自体造血干细胞移植14例;放疗10例。Ch14.18/CHO免疫治疗8例,其中1例因在治疗过程中出现过敏性休克而停止免疫治疗;其余7例完成治疗,期间未观察到严重不良反应。完成免疫治疗患儿中1例复发后进行3次Lu177 Dotatate治疗,目前仍在化疗中。14例患儿中位随访时间为45个月。2年内复发4例,2年内总生存率100%;3年内复发4例,3年内无病存活7例。 结论 儿童4期神经母细胞瘤建议选择多学科联合方案治疗,使4期神经母细胞瘤患儿获得更好的生存及预后。     

Demographic features and compliance of children with allergic diseases receiving sublingual immunotherapy北大核心CSCD

目的探讨标准化舌下免疫治疗(sublingual immunotherapy,SLIT)过敏性疾病患儿的人口学特征,并分析依从性的影响因素。方法纳入江西省儿童医院2018年1月1日—2020年12月31日接受SLIT的1789例过敏性疾病患儿为研究对象,回顾性分析患儿的人口学特征和随访资料,分析SLIT的依从性及其影响因素。结果共1789例SLIT患儿,其中男性1271例(71.05%),女性518例(28.95%),年龄4~14岁;完全依从777例(43.43%);脱落1012例(56.57%),因自觉使用不便脱落354例(34.98%),因疗效欠佳脱落346例(34.19%),因症状改善自行停用253例(25.00%),因不良反应停用的59例(5.83%)。脱落主要集中在开始治疗后1~4个月(74.31%,752/1012)。女性患儿依从率低于男性患儿,患单一疾病者依从率低于患多种疾病者(P<0.05)。多因素分析结果显示,与男性相比,女性发生脱落的风险增加(OR=0.811,95%CI:0.658~0.998,P<0.05);相对于患多种疾病者,患单一疾病者发生脱落的可能性增加(OR=1.313,95%CI:1.005~1.715,P<0.05)。结论过敏性疾病患儿SLIT依从性不理想,与患儿性别、所患疾病数量等特征有关;主要脱落原因为自觉使用不便和疗效欠佳。     

家族性肝内胆汁淤积症的研究进展北大核心CSCD

遗传性肝内胆汁淤积症是儿童期死亡或致残的重要原因。随着分子医学的发展,一系列基因突变导致的家族性肝内胆汁淤积症（ATP8B1缺陷、ABCB11缺陷、ABCB4缺陷、TJP2缺陷、NR1H4缺陷、MYO5B缺陷）陆续被发现和认识。这些患儿若得不到及时干预,多在儿童期发展为肝硬化和肝衰竭。因此,早期诊断和干预对改善预后十分重要。     

RBM20基因在扩张型心肌病中表达的研究进展北大核心CSCD

扩张型心肌病(dilated cardiomyopathy,DCM)是心力衰竭重要的原因之一,任何阶段均可出现严重的心血管事件,导致猝死。RNA结合基序蛋白20(RNA-binding motif protein 20,RBM20)基因突变是引起DCM的原因之一,呈家族性聚集,可合并心律失常,具有易猝死、早死亡的特点。该文介绍RBM20基因及其调节TTN基因、CAMK2基因的剪接,总结RBM20基因突变相关DCM的治疗,旨在提高临床工作者对RBM20基因的认识,为精准医学治疗提供新思路。     

Causes of death in 15 children with omphalocele北大核心CSCD

Objective To summarize the major causes of death for congenital omphalocele so as to optimize its treatments in children. Methods Retrospective review was performed for the clinical data of 15 children dying from omphalocele from June 2015 to June 2022. There were 8 boys and 7 girls. Term was premature (n: 5) and mature (n: 10). Gestational week, gender, weight, soma totype, complicated malformations and causes were analyzed. Results Size was giant (n: 13) and small (n: 2). The associated conditions were pulmonary hypertension (n: 13), patent ductus arteriosus (n: 13), atrial septal defect (n: 15), ventricular septal defect (n: 9), congenital diaphragmatic hernia (n: 1), non-compaction of ventricular myocardium, bronchopulmonary dysplasia (n: 4), Merkel's diverticulum (n:3) and congenital intestinal malrotation (n:9). Neonatal necrotizing enterocolitis (n: 1), respiratory syncytial virus infection (n: 2) and pneumorrhagia (n: 2) occurred during treatment. Eight deaths were due to pulmonary hypertension. Two cases were abandoned due to complicated malformations, one death occurred without repairing congenital diaphragmatic hernia, two deaths were caused by respiratory syncytial virus infection, one child died from heart failure due to non-compaction of ventricular myocardium and another from heart failure after double-outlet RV surgery. Conclusions Children with congenital omphalocele may die from various causes. And pulmonary hypertension is a major cause. Other diseases and complications should be aggressively managed during hospitalization. © 2023 Chinese Medical Journals Publishing House Co.Ltd. All Rights Reserved.     

Long-term trajectories of lung function and risk factors in children with bronchial asthma北大核心CSCD

目的建立支气管哮喘(哮喘)患儿肺功能长期变化的发展轨迹, 确定哮喘患儿出现长期肺功能损伤的危险因素。方法采用回顾性队列研究, 纳入2019年1月至12月在首都儿科研究所附属儿童医院定期随诊, 并完成肺功能检测的14岁以上哮喘患儿, 收集其肺功能资料及临床信息。采用潜变量增长模型(LCGM)拟合哮喘患儿肺功能发展轨迹, 建立不同的轨迹组, 组间比较采用t检验、方差分析或χ2检验, 确定肺功能长期变化危险因素采用多分类Logistic回归分析。结果共纳入哮喘患儿173例, 年龄6~17岁, 获得肺功能测定1 160例次。拟合4条1秒率(FEV1/FVC)潜分类轨迹:持续高水平组、高于平均水平组、低于平均水平组、持续低水平组, 其病例数分别为27例(15.6%)、66例(38.1%)、66例(38.1%)、14例(8.1%)。不同轨迹组患儿的FEV1/FVC在每一年龄组间的差异均有统计学意义(均P<0.05)。持续高水平组各年龄段的FEV1/FVC均在90%以上, 其余各轨迹组FEV1/FVC随年龄变化整体呈下降趋势, 低于平均水平组的FEV1/FVC在青春期后下降至80%以下;持续低水平组的FEV1/FVC均值在学龄期后即下降至80%以下, 至青春期接近70%。最大用力呼气中段流量(MMEF)的轨迹和波动情况与FEV1/FVC相似。危险因素分析显示, 与持续高水平组相比, 典型哮喘患儿肺功能轨迹处于低于平均水平组的风险是咳嗽变异性哮喘患儿的11.940倍(P=0.008);多重致敏患儿的肺功能轨迹处于低于平均水平组的风险是单一致敏的7.462倍(P=0.015);未规律用药患儿肺功能处于持续低水平组的风险是规律用药者的6.337倍(P=0.035);男童肺功能轨迹处于低于平均水平组的风险是女童的6.186倍(P=0.002)。结论 6~17岁哮喘患儿的长期肺功能变化可确定4条不同轨迹:持续高水平、高于平均水平、低于平均水平、持续低水平;近半数患儿的长期肺功能轨迹处于低水平, 较多患儿在青春期, 少数患儿在学龄期出现持续性气流受限;典型哮喘、多重致敏、未规律用药、男性是哮喘患儿长期肺功能降低的危险因素。     

Serum free fatty acid level in children with primary hypertension北大核心CSCD

目的研究儿童原发性高血压血清游离脂肪酸(free fatty acid,FFA)的水平,探讨其在儿童原发性高血压发病和防治中的临床意义。方法回顾性选取2021年1—6月首都儿科研究所附属儿童医院初治的34例原发性高血压儿童为高血压组,以同期体检的血压正常儿童32例为对照组。比较2组的空腹血清FFA、空腹血清三酰甘油(triglyceride,TG)、总胆固醇(total cholesterol,TC)、低密度脂蛋白胆固醇(low-density lipoprotein cholesterol,LDL-C)、高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)和非高密度脂蛋白胆固醇(non-high-density lipoprotein cholesterol,non-HDL-C)水平。采用多因素logistic回归分析探讨血清FFA对原发性高血压发病的影响。结果高血压组体重指数(body mass index,BMI)、收缩压(systolic blood pressure,SBP)、舒张压(diastolic blood pressure,DBP)高于对照组,差异有统计学意义(P<0.05)。高血压组血清FFA、TG、LDL-C、non-HDL-C高于对照组,而血清HDL-C低于对照组,差异均有统计学意义(P<0.05)。高血压组血清FFA升高(女性>0.45 mmol/L,男性>0.60 mmol/L)率和传统血脂异常(血清TG、TC、LDL-C、HDL-C、non-HDL-C中至少一项异常)率均高于对照组,差异有统计学意义(P<0.05)。纳入年龄、性别、BMI、血清FFA升高、传统血脂异常等指标构建多因素logistic回归方程,结果显示血清FFA升高是儿童原发性高血压的独立危险因素(OR=17.560,95%CI:1.964~157.003,P<0.05)。结论原发性高血压儿童血清FFA明显升高;血清FFA升高可增加儿童原发性高血压的发病风险。     

Clinical and genetic analyses of Joubert syndrome in children北大核心CSCD

目的 分析儿童Joubert综合征(Joubert syndrome,JS)的临床特征及遗传学特点。方法 回顾性分析2017年1月—2022年7月郑州大学第三附属医院儿童康复科诊断的20例JS患儿的临床资料、遗传学结果及随访资料。结果 20例JS患儿中,男11例,女9例。患儿临床表现以发育迟缓(20例,100%)、眼球运动异常(19例,95%)、肌张力低下(16例,80%)多见,5例(25%)出生时呼吸节律异常,3例(15%)面容异常(包括前额突出、耳位低、三角口),所有患儿均无肢体畸形。20例(100%)患儿头部影像学均有典型的“磨牙征”、“中线裂征”,6例(30%)患儿眼部检查异常。完成基因检测7例,发现6个致病基因(CPLANE1、RPGRIP1L、MKS1、CC2D2A、CEP120、AHI1基因)。结论 对于发育迟缓患儿,尤其是伴随眼球运动异常、肌张力低下症状,建议完善头部影像学检查明确有无“磨牙征”、“中线裂征”等特征,以排查JS,避免漏诊、误诊。JS有多种致病基因,全外显子组测序可协助诊断。     

The role of bronchoscopy in slide tracheoplasty in children北大核心CSCD

目的 总结支气管镜在儿童Slide气管成形术中的作用。方法 回顾性分析2017—2020年湖南省人民医院收治的4例气管狭窄患儿的诊疗经过,总结支气管镜在Slide气管成形术术前评估、术中定位与测量及术后创面评估和治疗中的作用。结果 Slide气管成形术术前支气管镜评估显示,4例患儿中3例存在完全气管环,2例合并肺动脉吊带,2例存在多处狭窄。3例在该院完成Slide气管成形术,术中支气管镜下判断狭窄段中点及测量狭窄段长度,协助离断气管狭窄段,术后灌洗明确病原;1例外院Slide气管成形术术后9个月出现瘢痕牵拉,经支气管镜下介入治疗好转。2例术后第4天支气管镜下发现气管黏膜改变,调整治疗方案;2例术后1个月出现肉芽增生,经支气管镜下冷冻治疗好转。1例因吻合口坏死放弃治疗死亡,存活的3例随访6个月以上,预后可,但均存在气管支气管软化。结论 支气管镜可用于气管狭窄患儿Slide气管成形术的管理,有助于术后康复及随访。     

Primary amoebic meningoencephalitis in children北大核心CSCD

A case of primary amoebic meningoencephalitis (PAM) treated in the First Affiliated Hospital of Xinxiang Medical University in March 6, 2022 was reported. The proband was a 14 - year - old boy, who was admitted to the hospital because of fever, headache and vomiting for 2 days. Metagenomic next - generation sequencing (mNGS) was consequently conducted to examine the pathogens in cerebrospinal fluid. Naegleria infection was detected, so the child was diagnosed with PAM. The disease developed rapidly, and the patient died 29 hours after admission. In the paper, a total of 13 studies were reviewed, and 15 children with PAM were reported. Of the reported cases, only 1 case survived, 14 cases died. PAM had a low incidence, a dangerous condition, and high mortality. Most cases were diagnosed by autopsy or pathogen diagnosis in cerebrospinal fluid. This case is confirmed by mNGS of pathogens, and it is rarely reported at home and abroad. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

Analysis of clinical features in children with McCune-Albright syndrome北大核心CSCD

Objective To summarize and analyze the clinical features of McCune-Albright syndrome (MAS) in 26 children, to improve the understanding of MAS diagnosis and treatment, and to achieve early clinical diagnosis of MAS. Methods The clinical data of 26 children with MAS treated in Department of Pediatrics, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from August 2011 to June 2021 were retrospectively analyzed.Their clinical characteristics were summarized and studied.t-test, Mann-Whitney U test, χ 2 test or Fisher′s exact probability method was used for comparison between groups. Results (1) Among the 26 MAS patients enrolled, there were 22 females and 4 males.The average onset age of female and male patients was (5.87±2.94) years old and (7.48±3.36) years old, respectively.(2) In female patients, there were 7 cases with the typical triad and 15 cases with the atypical triad.(3) Female patients had the first symptom of vaginal bleeding (8/22) and breast development (14/22). Among the 4 male children, 1 case had fracture and 3 cases lagged behind their peers in height at the first visit.(4) Compared with the breast development group, the vaginal bleeding group had an earlier onset age[(4.06±1.88) years old vs.(7.82±1.82) years old] (t=5.023, P<0.001), earlier bone maturation[(1.26±0.07) vs.(1.09±0.13)] (t=2.933, P<0.05), a greatly lowered predicted adult height[(-2.16±0.98) SDS vs.(-0.96±1.09) SDS](t=1.352, P<0.05), a lower blood phosphorus level[(1.41±0.14) nmol/L vs.(1.67±0.24) nmol/L] (t=1.941, P<0.05), and a significantly elevated alkaline phosphatase level[339(313, 656) U/L vs.243(205, 452) U/L] (U=1.000, P<0.05). All patients (8 cases) in the vaginal bleeding group had fibrous dysplasia of bone.(5) Ten patients progressed to central precocious puberty (CPP). They showed an older average age of onset[(7.27±2.69)years old vs.(4.69±2.68)years old] (U=44.000, P<0.05), significantly earlier bone maturation at diagnosis[(1.23±0.11) vs.(1.01±0.13)] (t=1.834, P<0.05), and a lower predicted adult height[(152.00±4.62) cm vs.(162.10±6.91) cm] (t=3.805, P<0.05), compared with those who did not progress to CPP.(6) Eleven children developed polyostotic fibrous dysplasia of bone, and most common type (8 cases) was polyostotic fibrous dysplasia of bone, primarily at lower limb bones and skulls.(7) Of the 26 children, 20 cases had scattered Café au lait pigments on the skin.The Café au lait pigmented skin lesions in 35% (7/20) cases crossed the midline. Conclusions With complicated clinical manifestations, MAS is more common and occurs earlier in girls than boys.It is difficult to clinically diagnose MAS in boys due to the insidious onset and atypical symptoms.Female MAS patients with vaginal bleeding as the first symptom usually have an early age of onset, advanced bone age and lower predicted adult height, so they should be monitored and evaluated clinically.Vaginal bleeding is significantly associated with polyostotic fiber dysplasia of bone in MAS patients.Therefore, it is recommended that patients with vaginal bleeding should undergo a routine bone single-photon emission computed tomography scan.This helps understand the situation of occult fiber dysplasia of bone.Patients with later diagnosis and advanced bone age should be aware of the possibility of progression to CPP. © 2022 Chinese Journal of Applied Clinical Pediatrics. All rights reserved.