基于小波变换的婴儿痉挛症脑干听觉诱发电位近似熵分析

采用多尺度小波变换计算脑干听觉诱发电位近似熵的方法,对比婴儿痉挛症患儿与正常幼儿的近似熵值,按照脑干听觉诱发电位成份波对应的解剖位置,分段、分尺度计算并统计近似熵值,从神经信息传递角度探讨阻碍婴儿痉挛症患儿智能发育的原因.采集12例正常儿童和13例婴儿痉挛症患儿的脑干听觉诱发电位,将它们进行60尺度小波分解,分段、分尺度计算各尺度近似熵值.发现婴儿痉挛症组患儿脑干听觉诱发电位中代表脑干活动的3～7 ms段的分尺度近似熵明显高于正常组(P＜0.01),小尺度上表现尤为显著.结果表明婴儿痉挛症患儿脑干传导通路不畅通,其中的随机成份增多,阻碍信息在脑干的传递,进而影响患儿大脑皮层的发育.     

基于小波变换的婴儿痉挛症脑干听觉诱发电位复杂性分析

采用多尺度小波变换计算脑干听觉诱发电位近似熵的方法,对比婴儿痉挛症患儿与正常幼儿的近似熵值,按照脑干听觉诱发电位成份波对应的解剖位置,分段、分尺度计算并统计近似熵值,从神经信息传递角度探讨阻碍婴儿痉挛症患儿智能发育的原因。采集12例正常儿童和13例婴儿痉挛症患儿的脑干听觉诱发电位,将它们进行60尺度小波分解,分段、分尺度计算各尺度近似熵值。发现婴儿痉挛症组患儿脑干听觉诱发电位中代表脑干活动的3~7ms段的分尺度近似熵明显高于正常组(P<0.01),小尺度上表现尤为显著。结果表明婴儿痉挛症患儿脑干传导通路不畅通,其中的随机成份增多,阻碍信息在脑干的传递,进而影响患儿大脑皮层的发育。     

婴儿痉挛症脑干信息传导障碍的混沌学研究

婴儿痉挛症（Infantile Spasms,IS）是婴幼儿难治性癫痫。IS的发病机理至今也不清楚,目前比较一致的假说是：脑干是IS的责任结构,但该假说不能用神经生理学的传统方法来证实。从信息学的角度,婴儿弃挛症的发病机制可能是源自脑干神经信息传递障碍的脑干功能失调,为了证实这一论点,用可以反遇脑干传导功能的听觉诱发响应的相关维数,来评估脑干神经信息传导不同的功能状态,经过对IS患者、颞叶癫痫患者和健康人三个组的结果比较分析,表明IS患者脑干听觉诱发响应的相关维数明显低下,而颞叶癫痫患者该相关维数在颞叶病灶处最低。以上结果,证实了IS患者脑干神经信息传导功能障碍的存在。     

听觉诱发脑电小波分量的混沌研究——婴儿痉挛症认知功能障碍的机制探讨

通过对婴幼儿期难治性癫痫———婴儿痉挛症(infantile spasms, IS)听觉诱发脑电细貌混沌特性的研究,探讨与IS相伴的认知功能障碍的发生机制。研究方法是分别记录IS组及正常对照组对象的听觉诱发脑电,经Mexihat连续小波变换后,分别计算信号各尺度小波分量的相关维数。结果表明IS组与正常对照组的各小波分量相关维数的差别主要表现在小波的第3尺度分量上(频带范围是32~64 Hz,主要为γ频带范围),在这个尺度上正常组相关维数明显低于IS组(P<0.05)。相关维数的降低意味着大脑活动自由度的减少,表明大脑的各单元耦合加强。因为正常组脑干内信息传递通道完好,使得大脑各个单元之间的信息耦合较强; IS组则由于脑干功能的异常,存在神经信息传递障碍,进而影响到脑干及其与大脑各个局部之间的信息耦合。小波第3尺度处于较高频率范围(γ频带范围),而在大脑皮层上的基频信号与听觉调频信号经加工后所产生的神经信号正在这一频率范围,且这一信号与大脑高级认知功能密切相关。因此,IS患者γ频带细貌信号的相关维数高于正常值,能够解释IS认知功能发生障碍的原因。     

IL-1β、IL-6在婴儿痉挛乳鼠海马区的表达分析

探讨白介素-1beta(IL-1β)、白介素-6(IL-6)在婴儿痉挛症乳鼠海马区的表达;将河豚毒素(tetrodotoxin,TTX)注入SD(sprague-dawley,SD)大鼠乳鼠脑室内,诱导乳鼠癫痫发作,建立婴儿痉挛乳鼠模型;免疫组织化学法及Western blot检测IL-1β、IL-6在每组乳鼠海马区的蛋白表达和含量。婴儿痉挛乳鼠模型成功建立;免疫组化显示,模型组乳鼠海马组织中IL-1β、IL-6棕黄色阳性细胞数及染色强度均明显增加;Western blot结果,与对照组及假手术组相比,IL-1β、IL-6在模型组乳鼠海马区的蛋白表达明显增高(P0.001),其增高率分别为57.7%和44.4%。IL-1β、IL-6在海马区的异常表达可能参与了婴儿痉挛症的免疫病理过程。     

中性大气稳定度条件下林冠湍流特征模拟

基于欧拉二阶闭合模型,利用2003年长白山阔叶红松林微气象资料,计算并分析了长白山阔叶红松林林冠内/上的湍流特征.结果表明:模拟得到的平均风速廓线与实测值吻合;雷诺应力在林内衰减较大,而近地面处几乎没有动量传输贡献;湍流强度、速度方差和速度偏度在林冠与大气交界面处达到最大,同时剪切也达到最强;速度偏度越大,则湍流间歇性越强,并且向下的湍涡越难穿透林冠内部;林内深处的大部分湍流能量不是由局地产生,而来自于林上.     

重复经颅磁刺激对痉挛型脑瘫患儿语言发育能力及运动功能的影响

目的:分析重复经颅磁刺激(rTMS)对痉挛型脑瘫患儿语言发育能力及运动功能的影响。方法:采用随机数字表法将54例我院于2015年8月至2016年8月收治的痉挛型脑瘫患儿分为观察组与对照组,每组27例,观察组患儿给予rTMS治疗,对照组给予常规的康复治疗。采用儿童语言发育迟缓检查法(S-S法)评价治疗前后患儿的语言发育能力,采用踝关节活动度及GMFM-88粗大运动功能测试表评估治疗前后患儿的运动功能。结果:治疗后两组患儿语言理解商与表达商较治疗前均增加,且观察组高于对照组,差异有统计学意义(P0.05);观察组患儿总有效率为77.8%,高于对照组的51.9%,差异有统计学意义(P0.05);治疗后两组患儿踝关节活动度均增加,且治疗后观察组患儿踝关节活动度高于对照组(P0.05);治疗后两组患儿GMFM-88评分均增加,且治疗后观察组患儿GMFM-88评分高于对照组(P0.05)。结论:rTMS康复方法可以促进痉挛型脑瘫患儿的语言发育能力及运动功能,值得临床推广。     

13例SCN2A 基因突变相关儿童神经系统疾病表型分析

摘要 目的：总结并分析SCN2A基因突变引起的儿童神经系统疾病相关表型谱特点。方法：采用回顾性研究,收集2018年6月至2021年6月在上海交通大学医学院附属上海儿童医学中心神经内科诊治的患儿,并经二代基因测序检测,纳入SCN2A基因突变者,研究并总结患儿神经系统临床表型特点。结果：共纳入13例SCN2A突变患儿,包括新生突变9例和遗传性突变4例。其中11例患儿伴有癫痫发作,发作年龄为1日龄~1岁11月龄,4例在新生儿期起病 （36%）,1~3 月龄起病2例（18%）,4~12月龄起病2例（18%）,1岁后起病3例（27%）;发作类型中强直阵挛发作、痉挛发作、局灶性发作均各有4例（36%）,阵挛发作1例（9%）。另有2例无癫痫发作的患儿,1例表现为全面性发育迟缓,另一例表现为发育迟缓合并孤独症谱系疾病。11例癫痫患儿中,丛集性发作患儿10例。遗传性突变4例患儿中2例智力、运动发育正常;9例新生突变的患儿中8例伴有运动、智力发育落后,1例发育正常。11例癫痫患儿表型中良性家族性新生儿癫痫1例,新生儿惊厥2例,婴儿痉挛症2例,不能分类的早发性癫痫性脑病3例,儿童期起病的癫痫性脑病2例,热厥附加症1例。结论：SCN2A基因突变引起的儿童神经系统疾病以癫痫表现居多、癫痫表型谱广,少数表现为不伴癫痫发作的发育迟缓和孤独症谱系疾病。     

假肥大型肌营养不良症患者红细胞膜流动性的ESR研究

假肥大型进行性肌营养不良症(DMD)是一种遗传性肌肉变性疾病。本病在2—3岁发病,表现为行走缓慢,奔跑困难,下蹲后出现严重肌肉乏力,肌腱痉挛萎缩,关节畸形,只能强迫卧床,并于25岁以前死亡。研究该病的发病机制对寻找治疗及预防措施是很有意义的。大量的材料说明,此症患者     

婴儿腹痛与家族性偏头痛的相关性研究

目的:研究家族性偏头痛对婴儿腹痛的影响及其相关性。方法:112例婴儿腹痛患儿为腹痛组,97例同期就诊非婴儿腹痛及头痛患儿为对照组,对所有患儿的一、二级及三级亲属进行问卷调查,然后对有偏头痛的亲属用统一的标准进行诊断,最后对两组患儿及其亲属的发病率进行对比分析。结果:20例(17.86%)婴儿腹痛患儿有家族性偏头痛,对照组6例(6.19%)患儿有家族性偏头痛,家族性患偏头痛的患儿比例在两组之间有显著差异(P<0.05);婴儿腹痛患儿的亲属诊断为偏头痛有85例,占本组调查总人数的16.93%,对照组患儿偏头痛亲属共有17例,占调查总人数的2.37%,两组患儿亲属患偏头痛的发病率有显著差异(P<0.05);患儿亲属患偏头痛种类的比较:腹痛组有家族性偏瘫型偏头痛和儿童腹型偏头痛,对照组没有;除散发性偏瘫型偏头痛的在两组的差异有统计学意义(P<0.05),其他种类的偏头痛没有显著差异。结论:有家族性偏头痛史的婴儿腹痛发生率高于正常人,婴儿腹痛与家族性偏头痛的发生率相关,与偏头痛的种类也可能有关。     

Age- and region-specific imbalances of basal amino acids and monoamine metabolism in limbic regions of female Fmr1 knock-out mice

The Fragile X syndrome, a common form of mental retardation in humans, originates from the loss of expression of the Fragile X mental retardation gene leading to the absence of the encoded Fragile X mental retardation protein 1 (FMRP). A broad pattern of morphological and behavioral abnormalities is well described for affected humans as well as Fmr1 knock-out mice, a transgenic animal model for the human Fragile X syndrome. In the present study, we examined neurochemical differences between female Fmr1 knock-out and wildtype mice with particular focus on neurotransmission. Significant age- and region-specific differences of basal tissue neurotransmitter and metabolite levels measured by high performance liquid chromatography were found. Those differences were more numerous in juvenile animals (postnatal day (PND) 28-31) compared to adults (postnatal day 209-221). In juvenile female knock-out mice, especially aspartate and taurine were increased in cortical regions, striatum, cerebellum, and brainstem. Furthermore, compared to the wildtype animals, the juvenile knock-out mice displayed an increased level of neuronal inhibition in the hippocampus and brainstem reflected by decreased ratios of (aspartate + glutamate)/(taurine + GABA), as well as an increased dopamine (DA) turnover in cortical regions, striatum, and hippocampus. These results provide the first evidence that the lack of FMRP expression in female Fmr1 knock-out mice is accompanied by age-dependent, region-specific alterations in brain amino acids, and monoamine turnover, which might be related to the reported synaptical and behavioural alterations in these animals.     

Protein and taurine of maternal diets during the mouse neonatal period: Permanent effects on cerebellar-brainstem amino acid levels in mature offspring

Neonatal malnutrition and/or undernutrition of limited duration appears to permanently influence steady state amino acid content of the adult mouse cerebellum and/or brainstem. Some of the changes seem related to the protein content of the milk (glutamine), whereas others reflect the taurine concentration in the milk during the neonatal period (glutamic acid and GABA). Adult levels of taurine, serine, and glycine in the cerebellum-brainstem may in part be influenced by the degree of growth retardation which occurred during the first 16 days of neonatal life. Provided the combined adult weight of the cerebellum and brainstem can be used as one criterion to determine growth retardation during the neonatal period, it appears justified to state that mice do not recover from malnutrition/undernutrition when subjected to such conditions during early infancy.     

Linkage to Xq28 in a family with nonspecific X-linked mental retardation

Linkage analysis was performed in a family with nonspecific X-linked mental retardation (MRX). Affected individuals had no clinical characteristics other than mental retardation. Linkage was detected to the marker loci DXS477, DXS465, DXS52, DXS15 and F8C with maximum lod scores of 1.70, 1.32, 2.52, 1.70, and 1.09, respectively ( = 0.0). The results strongly indicate that the gene for mental retardation in the family studied maps close to DXS52.     

Initial stress and nonlinear material behavior in patient-specific AAA wall stress analysis

Rupture risk estimation of abdominal aortic aneurysms (AAA) is currently based on the maximum diameter of the AAA. A more critical approach is based on AAA wall stress analysis. For that, in most cases, the AAA geometry is obtained from CT-data and treated as a stress free geometry. However, during CT imaging, the AAA is subjected to a time-averaged blood pressure and is therefore not stress free. The aim of this study is to evaluate the effect of neglecting these initial stresses (IS) on the patient-specific AAA wall stress as computed by finite element analysis. Additionally, the contribution of the nonlinear material behavior of the AAA wall is evaluated.Thirty patients with maximum AAA diameters below the current surgery criterion were scanned with contrast-enhanced CT and the AAA's were segmented from the image data. The mean arterial blood pressure (MAP) was measured immediately after the CT-scan and used to compute the IS corresponding with the CT geometry and MAP. Comparisons were made between wall stress obtained with and without IS and with linear and nonlinear material properties.On average, AAA wall stresses as computed with IS were higher than without IS. This was also the case for the stresses computed with the nonlinear material model compared to the linear material model. However, omitting initial stress and material nonlinearity in AAA wall stress computations leads to different effects in the resulting wall stress for each AAA. Therefore, provided that other assumptions made are not predominant, IS cannot be discarded and a nonlinear material model should be used in future patient-specific AAA wall stress analyses.     

A new case of Martsolf syndrome

Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. A seven-year-old boy was admitted to the hospital with growth retardation and difficulties in walking. His parents were first cousins. Bilateral lens extraction was performed during infancy because of congenital cataract. On physical examination he had short stature, microcephaly, micropthalmia, hypogonadism, mental retardation. Brain magnetic resonance imaging revealed alterations in the white matter. Up to date very few cases with this syndrome have been reported. This is the first case described in the Turkish population and may add valuable information to the literature.     

Fruit flies and intellectual disability

Mental retardation - more commonly known nowadays as intellectual disability - is a severe neurological condition affecting 3% of the general population. As a result of analysis of familial cases and recent advances in clinical genetic testing great strides have been made in our understanding of the genetic etiologies of mental retardation. Nonetheless, no treatment is currently clinically available to patients suffering from intellectual disability. Several animal models have been used in the study of memory and cognition. Established paradigms in Drosophila have recently captured cognitive defects in fly mutants for orthologs of genes involved in human intellectual disability. We review here three protocols designed to understand the molecular genetic basis of learning and memory in Drosophila and the genes identified so far with relation to mental retardation. In addition, we explore the mental retardation genes for which evidence of neuronal dysfunction other than memory has been established in Drosophila. Finally, we summarize the findings in Drosophila for mental retardation genes for which no neuronal information is yet available. All in all, this review illustrates the impressive overlap between genes identified in human mental retardation and genes involved in physiological learning and memory.     

Renpenning syndrome maps to Xp11.

Mutations in genes on the X chromosome are believed to be responsible for the excess of males among individuals with mental retardation. Such genes are numerous, certainly >100, and cause both syndromal and nonsyndromal types of mental retardation. Clinical and molecular studies have been conducted on the Mennonite family with X-linked mental retardation (XLMR) reported, in 1962, by Renpenning et al. The clinical phenotype includes severe mental retardation, microcephaly, up-slanting palpebral fissures, small testes, and stature shorter than that of nonaffected males. Major malformations, neuromuscular abnormalities, and behavioral disturbances were not seen. Longevity is not impaired. Carrier females do not show heterozygote manifestations. The syndrome maps to Xp11.2-p11.4, with a maximum LOD score of 3.21 (recombination fraction 0) for markers between DXS1039 and DXS1068. Renpenning syndrome (also known as "MRXS8"; gene RENS1, MIM 309500) shares phenotypic manifestations with several other XLMR syndromes, notably the Sutherland-Haan syndrome. In none of these entities has the responsible gene been isolated; hence, the possibility that two or more of them may be allelic cannot be excluded at present.