基于体素的形态学分析唇腭裂患儿脑结构特征

Objective To investigate the structural characteristics of brain in children with cleft lip and/or palate by voxel- based morphometry (VBM). Methods Optimized VBM (OVBM) was used to compare the data acquired on a 1.5 T magnetic resonance scanner from ten cases of cleft lip and/or palate patients and from ten normal controls. The density and volume of gray and white matters in two groups of young children were examined with two-sample t-test and displayed with the internationally accepted statistical parametric mapping (SPM). Abnormal distribution of gray and white matters in children with cleft lip and/or palate as clinically relevant was analyzed. Results Compared with normal controls, significantly smaller volume in gray matter of bilateral medial prefrontal cortex belonging to the superior frontal gyrus was noted in children with cleft lip and/or palate, (voxels of clusters with varied volume: 5220 and 4871,adjusted P＜0.05 at cluster level), as was significantly greater density in gray matter of the left superior temporal gyrus (adjusted P＜0.05 at voxel level). No significant difference in density or volume of white matter was observed between groups. Conclusion Difference may exist in cortex responsible for hearing and cognition between children with cleft lip and/or palate and normal children, suggesting the necessity for such children to be early examined and intervened for central auditory processing and cognitive functions.     

强迫症患者大脑灰质体积变化——基于体素的形态学分析

目的探讨强迫症(OCD)患者大脑灰质体积的变化,并分析其在发病过程中可能存在的相关机制。方法选择31例年龄17～47岁重度强迫症患者和31例正常对照被试者,获取脑结构磁共振T1图像,使用基于体素的形态学测量(VBM)方法,比较强迫症组和对照组大脑灰质体积的差异,并将患者灰质体积差异区与其临床评分进行相关分析。结果与对照组相比,OCD患者在左侧壳核、岛叶、运动前区、顶上小叶以及右侧角回处体积显著减小。左侧壳核和岛叶的体积与患者贝克焦虑量表(BAI)评分成显著负相关。结论左侧壳核、岛叶、运动前区、顶上小叶以及右侧角回的灰质体积变化影响了该脑区功能,从而导致了OCD患者的部分症状。其中左侧壳核以及岛叶的损伤与患者焦虑情绪的异常密切相关。     

缺陷型及非缺陷型精神分裂症脑白质异常—基于体素的脑形态学研究

目的:应用基于体素的脑形态测量学方法,比较缺陷型与非缺陷型精神分裂症患者大脑白质结构损害的差异.方法:采用GE 1.5T MRI成像系统,对缺陷型精神分裂症(n=10)、非缺陷型精神分裂症(n=11)及正常对照(n=15)进行全脑扫描,获取脑解剖结构MR T1图像.随后在SPM2平台上使用VBM工具箱逐例进行全自动数据分析,再进行成组t检验.结果:与正常对照相比,缺陷型患者的白质密度降低区域主要是左侧额叶回下,而非缺陷型患者为左侧额叶回下、右颞中回、右枕叶舌回以及胼胝体.两型患者的比较显示,缺陷型患者双侧额上回以及右侧顶叶的白质密度低于非缺陷型组,而左侧额内侧回的白质密度高于非缺陷型组.结论:这是第一项运用VBM法考察缺陷型与非缺陷型患者之间脑白质损害不同的形态学研究.研究结果为缺陷型患者额一顶环路受损的假说提供了新的证据.     

武汉地区167例先天性唇腭裂临床分析

目的探讨先天性唇腭裂的临床流行病学特征,了解先天性唇腭裂的发病情况,为先天性唇腭裂的深入研究提供数据。方法对我院2008年1月至2013年6月在我院引产及分娩的先天性唇腭裂畸形儿病例进行回顾性分析,并进行统计学处理。结果单纯唇裂、唇裂合并腭裂性别、单双侧比较差异有统计学意义。唇腭裂左右侧比较无统计学意义。唇腭裂城乡分布无统计学意义。唇腭裂家族发病亲缘关系、三种类型比较,差异均无统计学意义。唇腭裂伴发畸形性别比较无统计学意义。结论唇裂合并腭裂最常见。唇腭裂各类型中除单纯腭裂外男性多于女性,单侧多于双侧。唇腭裂家族发病情况与亲缘关系的远近无关。唇腭裂伴发畸形无性别差异。     

唇腭裂的致病因素与临床分析

目的 研究唇腭裂的致病、遗传及环境因素的作用与临床分析。方法 对486例唇腭裂患者的临床资料进行详细的调查分析。结果 单纯唇裂105例，单纯腭裂141例，合并唇腭裂240例。有遗传史者50例，有服药史者（孕早期）156例，男性：女性1、62：1。结论 唇腭裂的病因是复杂的，而遗传因素和母亲孕早期病毒感染、服药、接触毒物、化学物品、X射线、金属元素等特定环境因素作用是其致病的危险因素。     

强迫症患者脑灰质基于体素的形态学研究

目的 运用基于体素的形态学测量(VBM)分析方法研究强迫症患者大脑灰质体积的改变,以及强迫症患者大脑灰质体积和耶鲁布朗强迫量表(Y-BOCS)评分的相关性.方法 收集20例未服药强迫症患者和20例健康对照组,对被试的大脑结构进行磁共振扫描.采用VBM分析方法对所获得的数据进行统计分析.结果 ①强迫症患者组较对照组在3个...     

唇腭裂的遗传及环境致病因素分析

目的研究唇腭裂的遗传及环境致病因素的作用.方法对384 例唇腭裂患者的临床资料进行详细的调查分析.结果单纯唇裂78例,单纯腭裂102例,合并唇腭裂204例.有遗传史者30例,有服药史者(孕早期)132例,男性∶女性为1.56∶1. 结论唇腭例的病因是复杂的,而遗传因素和母亲孕早期感染、服药、接触毒物等特定环境因素作用是其致病的危险因素.     

非综合征型单侧完全性唇腭裂患者牙弓形态学特点

目的 通过对上颌牙弓进行测量,了解非综合征型单侧完全性唇腭裂患者上颌牙弓的形态学特点,为临床评价牙弓发育、咬关系提供参考,为临床咬诱导治疗提供依据.方法 使用丹麦3Shape公司牙科模型扫描仪及应用软件,对32副非综合征型单侧完全性唇腭裂患者上颌牙弓的模型(分非裂侧和裂侧)进行扫描和数据测量,内容包括牙弓各段的宽度、长度、非裂侧和裂侧牙弓周长.使用SPSS14.0统计软件对裂侧和非裂侧牙弓测量值进行配对t检验.结果 双尖牙区,裂侧与非裂侧的宽度差异有统计学意义(第1双尖牙区t=5.19,P<0.01;第2双尖牙区t=3.24,P<0.05).第1恒磨牙区,裂侧与非裂侧的宽度差异无统计学意义(t=0.48,P>0.05).患者非裂侧比裂侧牙弓实际周长长约4.2mm,差异有统计学意义(t=4.61,P<0.01).结论 对于非综合征型单侧完全性唇腭裂患者,上颌牙弓在裂隙侧宽度明显发育不足,牙弓周长明显小于非裂侧.     

基于体素的和基于形变的形态学测量在轻度认知障碍识别上的比较研究

目的 比较基于体素的形态学测量(voxel-based morphometry,VBM)和基于形变的形态学测量(deformation-based morphometry,DBM)在检测轻度认知功能障碍(mild cognitive impairment,MCI)灰质异常及相应分类识别性能上的差异,为结构态分析方法的选择提供依据.方法 利用VBM和DBM对27例MCI患者及30例健康对照的磁共振结构像进行分析,分别统计比较获得相应的组间结构异常脑区,并将异常脑区作为分类特征构建相应的MCI诊断识别模型,最终通过评价异常脑区的空间分布特征及分类识别准确率来评估两种方法的差异.结果 VBM和DBM均发现MCI患者在海马、海马旁回、杏仁核、岛叶等脑区发生结构改变,但VBM方法还在额中回、颞中回等脑区发现异常.VBM确定的结构异常得到了86.0％的最佳准确度,而DBM方法的准确度为77.2％,虽然在性能表现上稍差,但发现的特征与VBM的最优特征具有一致性.结论 VBM方法可以发现更多的MCI结构异常,而DBM方法则能发现具有较强敏感性的结构异常,因而提示在磁共振结构像研究中应将两者结合应用.     

河南省先天性唇腭裂监测结果分析

目的 探讨河南省先天性唇腭裂的发生状况、影响因素及有效的干预措施。方法 选择河南省2018年1月至2019年12月在各分娩机构分娩的围生儿及<28周治疗性引产儿进行监测。结果 2018年和2019年河南省先天性唇腭裂总发生率分别为5.6/万和4.3/万。男性单纯唇裂、唇裂合并腭裂发病率均高于女性,而腭裂发病男性低于女性;唇裂合并腭裂的产前超声诊断率远高于单纯唇裂及单纯腭裂;单纯腭裂引产率最低。结论 性别、母亲高龄、文化程度低以及多次孕产史可能是先天性唇腭裂发生的危险因素,因此积极宣传优生优育、加强病因预防是减少先天性唇腭裂发生的有效手段。     

Genetics of cleft lip and/or cleft palate: Association with other common anomalies

Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most common birth defects but we still have difficulty explaining why the majority of cases occur. In general, sporadic cases with no family history may be more related to environmental risks, while the presence of one or more affected relative in the same family strongly suggests that genetic factors are the main contributor. Orofacial clefts can occur in conjunction with other defects (syndromic CL/P) or as an isolated defect (non-syndromic – NSCL/P). CL/P syndromes have been studied intensively and appear to have a stronger genetic aetiology. Here we report on the relationship between syndromic and NSCL/P as a phenotypic spectrum resulting from coding or non-coding mutations respectively. We review certain abnormalities that are most frequently associated with CL/P, including dental, heart, brain, skin and certain types of cancer and examine some of the genes that are involved. We include the outcome of recent NSCL/P GWAS data and we will discuss how the genes at these loci might contribute towards clarifying the genetics of CL/P.     

超声诊断胎儿唇腭裂畸形漏诊原因及对策

目的探讨超声诊断胎儿唇腭裂畸形漏诊原因及对策。方法对超声诊断并经引产证实的10例胎儿唇腭裂畸形的超声图像进行回顾性分析。结果复习文献,结合病例,找到超声诊断胎儿唇腭裂的影响因素（1）胎龄的影响;（2）胎位的影响;（3）合并其它因素的影响等。结论总结经验提出防漏诊的对策：（1）正确选择超声筛查时机;（2）掌握正常胎儿唇腭部的超声图像;（3）多切面、多角度、多体位仔细检查以防漏诊;（4）可疑病例复查后诊断。     

Evidence of the involvement of the DHFR gene in nonsyndromic cleft lip with or without cleft palate

Studies aimed at evidencing genetic causes for neural tube defect (NTD) occurrence have often provided the inspiration for orofacial cleft aetiology investigations. The correlation between the two congenital malformations is provided by the similar incidence timing and the involvement of structures localized in the midline of the embryo. This connection is corroborated by the existence of a number of genes involved in both malformations. In this article, we considered the dihydrofolate reductase (DHFR) gene, previously seen implicated in NTDs, as a candidate for cleft lip with or without cleft palate (CL/P) risk. Four SNPs mapping on the DHFR gene were genotyped for 400 Italian CL/P triads, using TaqMan^® approach. The rs1677693 provided evidence of association, even if at borderline level (P value 0.049). In particular, the variant allele seems to have a protective effect OR = 0.80 (95% C.I. 0.64–0.99). Moreover, the combination of rs1677693(A)-rs1650723(G) alleles showed a significant association OR 0.64 (95% C.I. 0.47–0.86) (P value = 0.006). This represents the first attempt to demonstrate a role for DHFR in CL/P aetiology, howbeit the study of such gene deserves a deepening.     

经手术和语音康复后非综合征型唇腭裂儿童静息态脑功能改变的磁共振特征

目的：探讨非综合征型唇腭裂（NSCLP）患儿在外科修复术和语音治疗康复后静息状态脑功能模式。方法：选取北京儿童医院和北京口腔医院就诊的28例NSCLP儿童和28例性别和年龄相匹配的健康者（对照组）,进行3DT1和静息态功能性磁共振数据采集。使用DPARSFA软件进行预处理并计算低频振幅（ALFF）和局部一致性（ReHo）,采用双样本t检验评价组间差异（TFCE校正, P<0.05）。对于有显著性差异脑区的静息态脑功能参数与汉语语言清晰度量表（CLCDS）评分进行相关性分析。结果：NSCLP患儿左颞中回、左枕中回、右楔叶、右楔前叶、左中央后回、左顶上小叶ALFF值明显降低。与对照组相比,ReHo值降低脑区包括左侧的中央后回、中央前回、顶上小叶、缘上回和旁中央小叶。异常脑区的ALFF值和ReHo值与CLCDS评分无显著性相关。结论：经外科修复手术和语音治疗康复后的NSCLP患儿静息态自发性神经元活动及其协调性仍未达到正常水平,且以优势半球的语言相关脑区异常为主。     

Gene/environment causes of cleft lip and/or palate

Craniofacial anomalies, and in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in 700 and substantial clinical impact. A wide range of studies in developmental biology has contributed to a better knowledge of how both genes and environmental exposures impact head organogenesis. Specific causes have now been identified for some forms of cleft lip and palate, and we are at the beginning of a time in which the common nonsyndromic forms may also have specific etiologies identified. Mouse models have an especially important role in disclosing cleft etiologies and providing models for environmental cotriggers or interventions. An overview of the gene-environment contributions to nonsyndromic forms of clefting and their implications for developmental biology and clinical counseling is presented.     

Informative morphogenetic and phenogenetic variants in children with cleft lip/cleft palate

In 230 patients with nonsyndromic cleft lip/cleft palate (138 boys and 92 girls) and in 226 age related healthy children (137 boys and 89 girls) informative morphogenetic and phenogenetic variants (IMV and PHV, respectively) were investigated. There was no difference between the number of IMVs between both groups (χ² = 5.89; d.f. = 3; α > 0.70). This finding is in line with the hypothesis that facial cleft disorders occur during blastogenesis, whereas IMVs and PHVs are typical patterns of the embryo- and fetogenesis. The anthropometric findings are contradictory. In a few non-craniofacial phenogenetic variants significant differences were found between the patients and the healthy children. Intrinsic factors or secondary sequelae of the primary defect might additionally act in the morphological fine tuning of children with single cleft lip/cleft palate. © 1996 Wiley-Liss, Inc.