Quantitative tissue velocity imaging evaluation of ventricular function in obstructive sleep apnoea–hypopnoea syndrome in children

This study aimed to evaluate the changes in left and right ventricular functions of children with obstructive sleep apnoea–hypopnoea syndrome (OSAHS) and to determine the efficacy of surgical treatment for OSAHS in children. The subjects included 20 normal controls and 55 children of OSAHS with adenoid and/or tonsil hypertrophy diagnosed by polysomnography (PSG). We divided the children with OSAHS into the mild group, moderate group and severe group of OSAHS according to the condition of apnoea–hypopnoea index (AHI) and the lowest of oxygen saturation (LSaO₂). In mitral annulus,the Va values were increased in moderate and severe OSAHS (P > 0.05), and the Ve/Va values were decreased in the severe group (P > 0.05), while the Vs values were not changed (P > 0.05). In tricuspid annulus, the Vs values were decreased in moderate and severe OSAHS (P < 0.05), while the Ve, Va and Ve/Va values were not changed (P > 0.05). Six months after adenoidectomy and/or tonsillectomy, mitral Va values were decreased and tricuspid Vs values were increased significantly (P < 0.05), and AHI was decreased and LSaO₂ was significantly increased (P < 0.05). Compared with the control group, no difference was found in the above parameters (P > 0.05). The left ventricular diastolic function and the right ventricular systolic function of children with moderate to severe OSAHS are decreased to varying degrees at an early stage. Mitral annular and tricuspid annular velocity detected by quantitative tissue velocity imaging (QTVI) could sensitively reflect the early changes of left and right ventricular function. Adenoidectomy and/or tonsillectomy were effective methods to treat childhood OSAHS, which could reverse myocardial dysfunction.     

肾病综合征患儿免疫功能测定的临床意义

目的研究肾病综合征（NS）患儿T细胞亚群、白细胞介素-2（IL-2）、白细胞介素-6（IL-6）及白细胞介素-8（IL-8）在肾病综合征（NS）患儿中的水平变化及其临床意义。方法分别采用流式细胞仪直接免疫荧光法和特异性酶联免疫吸附实验检测30例体检健康者,30例NS发作组和32例NS缓解组患者血清中T细胞亚群和IL-2、IL-6和IL-8水平及其动态变化。结果NS发作组T细胞亚群均明显高于正常对照组（P〈0.05）及NS缓解组（P〈0.05）,NS发作组IL-2、IL-6和IL-8水平亦明显高于正常对照组（P〈0.01）及NS缓解组（P〈0.01）,而NS缓解组IL-2、IL-6和IL-8水平与正常对照组无显著性差异。结论研究提示肾病综合征（NS）患儿存在明显的免疫功能紊乱。     

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta‐analysis

IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2‐like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional neurodevelopmental disorders. Here we genotyped 100 trio families with an index proband with autism spectrum disorder in Han Chinese population and found three cases with rare exonic IMMP2L deletions. We have conducted a comprehensive meta‐analysis to quantify the association of IMMP2L deletions with ASD using 5,568 cases and 10,279 controls. While the IMMP2L deletions carried non‐recurrent breakpoints, in contrast to previous reports, our meta‐analysis found no evidence of association (P > 0.05) between IMMP2L deletions and ASD. We also observed common exonic deletions impacting IMMP2L in a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions. This is the first systematic review and meta‐analysis regarding the effect of IMMP2L deletions on ASD, but further investigations in different populations, especially Chinese population may be still needed to confirm our results.     

手足口病致急性弛缓性麻痹的神经电图分析

目的探讨手足口病致急性弛缓性麻痹的神经电图特点。方法对50例手足口病致急性弛缓性麻痹患儿进行常规肌电图和神经电图检查,分析其神经电图的异常形式及特点。结果手足口病致急性弛缓性麻痹患儿神经电图异常主要表现为复合肌肉动作电位cMAP波幅的下降,个别可伴有运动神经传导速度MCV的轻度减慢,其感觉神经传导速度SCV检测未见异常。结论手足口病致急性弛缓性麻痹病变多累及脊髓的前角运动神经元,其神经病变主要表现为轴索变性。     

Analysis of a female neonate with pyruvate dehydrogenase complex deficiencyCSCD

Objective: To analyze the clinical features and genetic basis of a female neonate with muscle weakness, abnormal brain magnetic resonance imaging and elevated blood lactate. Methods: The patient was subjected to clinical and laboratory examination. Next generation sequencing was carried out for the patient and her relatives. Results: The proband was diagnosed as small for gestational age, with clinical features including muscle weakness, abnormal brain magnetic resonance imaging, increased blood lactate, and acidosis. By genetic testing, a de novo PDHA1 mutation c. 1133G> A (p. R378H) was identified, which was known to be pathogenic. The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin Bi, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended. Follow-up at 4-month-7-day found that her blood lactic acid was reduced to normal but her muscle tone was still low. Conclusion: The proband was diagnosed as PDCDD caused by a PDHA1 missense mutation. NGS has provided a powerful tool for the diagnosis of such diseases. © 2018 MeDitorial Ltd. All rights reserved.     

超声诊断小儿先天性肠闭锁和狭窄

目的 探讨应用超声诊断小儿先天性肠闭锁和狭窄的价值。方法 回顾性分析52例经手术证实的先天性肠闭锁和狭窄患儿的超声资料。结果 52例中,肠闭锁28例,肠狭窄24例。超声检出先天性肠闭锁25例,漏诊3例,诊断符合率89.29%（25/28）;检出先天性肠狭窄22例,漏诊2例,诊断符合率91.67%（22/24）。结论 超声检查简便、安全、迅速,可作为小儿先天性肠闭锁和狭窄的首选检查方法。     

EBV立刻早期蛋白Zta基因对Daudi细胞周期的影响及其机制研究

目的 探讨EBV立刻早期蛋白Zta基因对Daudi细胞周期的影响及其可能机制.方法 构建Zta基因真核表达载体,通过电穿孔将该载体转染Daudi细胞,用流式细胞术检测细胞周期的变化,用蛋白印迹试验检测细胞周期蛋白p21、Rb、E2F-1的表达.结果 成功构建了 Zta基因表达载体,转染Zta基因可抑制Daudi细胞的增殖,并促进Daudi细胞由G0/G11期[(30.0±3.4)％)]向S期[(47.7±1.1)％]的转化.同时转染Zta基因可下调Rb的表达、上调E2F-1、p21的表达.结论 转染Zta基因使Daudi细胞周期由Go/G1期向S期转变,其机制可能与Rb的表达下降、E2F-1和p21表达上调有关.     

MRI是儿童先天性TORCH综合征治疗的首选影像学检查方式

目的探讨MRI在儿童先天性TORCH综合征中的应用价值。方法回顾性分析经证实的36例TORCH患儿的影像资料及临床资料,包括男19例、女17例,年龄5 d~3岁,所有患儿均行头颅MRI扫描。结果弥漫性囊性脑软化20例及穿通囊肿7例;27例脑实质不同程度钙化,呈条状及斑点状,以及少许脑回样融合性钙化,主要位于室管膜下及脑室周围;小头畸形,平滑脑11例,巨脑回畸形15例,小脑发育不全3例,脑裂畸形6例;积水性无脑畸形3例;脑实质脱髓鞘及胶质增生13例;脑积水17例,硬膜下积液9例及弥漫性脑萎缩21例。结论MRI能够对TORCH综合征中的各种征象进行直观显示,为本病的一种首选影像学检查。