1988—1992年中国非综合征性唇腭裂发生率的动态变化

目的：了解我国1988－1992年非综合征性唇腭裂发生率的动态变化趋势及流行病学特征。方法：在1988－1992年期间,采用以医院为单位的整群抽样方法,对全国500多所医院孕28周至产后7天的4349例非综合征性唇腭裂病例进行回顾性分析。结果：我国5年非综合征性唇腭裂发生率无显著性差异,城乡发生率也无显著性差异。男性发生率为14．9／万,女性发生率为11．7/万,差异有显著性,非综合征性唇腭裂的性别比为1．3：1。三类非综合征性唇腭裂各自的发生率为：唇裂合并腭裂：7．8／万,单纯性唇裂：3．8／万,单纯性腭裂：1．8/万。结论：我国非综合征性唇腭裂发生率无变化趋势,城乡无差异。男性高于女性,唇裂合并腭裂为最常见类型。     

总唇裂发生率变化趋势分析

目的:了解贵州省1996~2003年总唇裂的流行病学特征及发生率的动态变化趋势。方法:采用以医院为单位的整群抽样方法,对贵州省17所医院孕28周至产后7天的围产儿及191例总唇裂病例进行回顾性分析。结果:总唇裂发生率为20.79/万,其中单纯性唇裂为6.64/万,唇裂合并腭裂为14.15/万,单纯性唇裂有升高趋势。城乡总唇裂的发生率(20.23/万、24.41/万)无明显差异;男性发生率为25.36/万,女性为15.70/万,性别比为1.81∶1。不同年龄组产妇间唇裂合并腭裂的发生率有显著性差异,并随产妇年龄增加有升高趋势。结论:1996~2003年贵州省总唇裂发生率无变化,城乡无差异,男性易感性大于女性;唇裂合并腭裂较常见,且产妇年龄对其有影响。     

三平面正交超声扫查诊断胎儿唇腭裂的价值

目的:探讨应用三平面正交(垂直)超声扫查胎儿唇、腭的方法,提高超声对胎儿唇裂、唇裂合并腭裂的检出率。方法:首先确定胎位,然后对胎儿颜面部进行冠状、矢状及横切面扫查,利用相互垂直的三个正交切面发现并确诊胎儿唇腭裂。结果:本组经产后和引产证实唇裂、唇裂合并腭裂胎儿共67例,超声产前检出62例(92·54%),漏诊5例(7·46%),无假阳性病例。结论:三平面正交扫查胎儿唇部是诊断胎儿唇裂、唇裂合并腭裂更有效的方法。     

Maternal reproductive history and the risk of isolated congenital malformations

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages.     

甘肃省2008年未修复唇腭裂患者检出率分析

目的 调查甘肃省未修复唇腭裂患者的数量及分布情况.方法 甘肃省卫生、人口计划生育系统的各级组织机构及工作人员在2008年1-12月利用人口普查网络系统筛查甘肃省境内所有未修复唇腭裂患者,采用统一问卷收集患者一般情况、家庭状况和唇腭裂分型等信息.结果 2008年甘肃省未修复唇腭裂患者共4675例,总检出率为1.84/万,男性(2.11/万)高于女性(1.43/万);低年龄组(4.86万)高于中年龄组(0.97/万)和高年龄组(0.68/万),其中,新生儿患者的检出率为13.5/万;农村(2.23/万)高于城市(0.62/万);贫困县(2.19/万)高于非贫困县(1.35/万).各地区相比,以白银市未修复唇腭裂的检出率(2.7/万)最高,金昌市(0.7/万)最低.结论 未修复唇腭裂对甘肃省造成一定的疾病负担,尤其对农村和贫困地区影响较大.     

Parental occupational pesticide exposure and nonsyndromic orofacial clefts

Nonsyndromic orofacial clefts are common birth defects. Reported risks for orofacial clefts associated with parental occupational pesticide exposure are mixed. To examine the role of parental pesticide exposure in orofacial cleft development in offspring, this study compared population-based case-control data for parental occupational exposures to insecticides, herbicides, and fungicides, alone or in combinations, during maternal (1 month before through 3 months after conception) and paternal (3 months before through 3 months after conception) critical exposure periods between orofacial cleft cases and unaffected controls. Multivariable logistic regression was used to estimate odds ratios, adjusted for relevant covariables, and 95% confidence intervals for any (yes, no) and cumulative (none, low [相似文献   

非综合征性唇腭裂环境危险因素病例对照研究

目的分析非综合征性唇腭裂(nsCL/P)与孕早期环境暴露因素之间的关系。方法选择在贵阳医学院附属医院和广西百色市人民医院就诊的212例nsCL/P患者作为病例组,221例外伤病人和骨折病人作为对照组。采用自行设计的调查表,通过面对面询问433例研究对象的父母亲获取问卷资料,运用单因素及多因素非条件Logis-tic回归模型分析环境危险因素与非综合征性唇腭裂的关联性。结果病例组父亲和母亲具有高中及以上文化程度的比例(37.7%,27.4%)明显低于对照组(60.6%,57.0%);病例组父亲和母亲为农民的比例(77.4%,77.8%)明显高于对照组(52.5%,52.5%);在调整了父母的文化程度和职业分布影响后,多因素分析结果显示,母亲孕早期被动吸烟(OR=1.643)、母亲孕早期感染史(OR=2.741)、父亲知晓怀孕前饮酒(OR=1.793)明显增加nsCL/P的发病风险。结论怀孕夫妇在孕早期应避免烟酒等不良嗜好并注意防止感染的发生,以减少后代患唇腭裂的风险。     

100例唇腭裂患儿的个性调查与分析

目的:通过对唇腭裂患儿的个性调查与分析,实施针对性的护理干预,消除患儿心理障碍.方法:对100名患儿进行问卷调查,分析患儿的心理状况及存在的心理问题.结果:据统计学分析,不仅唇腭裂惠儿自身存在严重的心理问题,其家长也存在严重的心理障碍,不能正确对待惠儿的疾病,严重影响患儿个性的发展.结论:家庭、社会应正确对待唇腭裂患儿,医护人员对患儿存在的心理问题进行针对性护理干预,使患儿能健康成长.     

Oral facial clefts and gene polymorphisms in metabolism of folate/one‐carbon and vitamin A: a pathway‐wide association study

An increased risk of facial clefts has been observed among mothers with lower intake of folic acid or vitamin A around conception. We hypothesized that the risk of clefts may be further moderated by genes involved in metabolizing folate or vitamin A. We included 425 case‐parent triads in which the child had either cleft lip with or without cleft palate (CL/P) or cleft palate only (CPO), and no other major defects. We analyzed 108 SNPs and one insertion in 29 genes involved in folate/one‐carbon metabolism and 68 SNPs from 16 genes involved in vitamin A metabolism. Using the Triad Multi‐Marker (TRIMM) approach we performed SNP, gene, chromosomal region, and pathway‐wide association tests of child or maternal genetic effects for both CL/P and CPO. We stratified these analyses on maternal intake of folic acid or vitamin A during the periconceptional period. As expected with this high number of statistical tests, there were many associations with P‐values<0.05; although there were fewer than predicted by chance alone. The strongest association in our data (between fetal FOLH1 and CPO, P=0.0008) is not in agreement with epidemiologic evidence that folic acid reduces the risk of CL/P in these data, not CPO. Despite strong evidence for genetic causes of oral facial clefts and the protective effects of maternal vitamins, we found no convincing indication that polymorphisms in these vitamin metabolism genes play an etiologic role. Genet. Epidemiol. 2009. © 2008 Wiley Liss, Inc.     

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes—cleft lip alone (CL) and CL plus cleft palate (CLP)—are typically grouped into a single phenotype for genetic analysis (i.e., CL with or without cleft palate, CL/P). However, mounting evidence suggests there may be unique underlying pathophysiology and/or genetic modifiers influencing expression of these two phenotypes. To this end, we performed a genome‐wide scan for genetic modifiers by directly comparing 450 CL cases with 1,692 CLP cases from 18 recruitment sites across 13 countries from North America, Central or South America, Asia, Europe, and Africa. We identified a region on 16q21 that is strongly associated with different cleft type (P  = 5.611 × 10^?8). We also identified significant evidence of gene–gene interactions between this modifier locus and two recognized CL/P risk loci: 8q21 and 9q22 (FOXE1 ) (P  = 0.012 and 0.023, respectively). Single nucleotide polymorphism (SNPs) in the 16q21 modifier locus demonstrated significant association with CL over CLP. The marker alleles on 16q21 that increased risk for CL were found at highest frequencies among individuals with a family history of CL (P  = 0.003). Our results demonstrate the existence of modifiers for which type of OFC develops and suggest plausible elements responsible for phenotypic heterogeneity, further elucidating the complex genetic architecture of OFCs.     

非综合征性唇腭裂部分基因SNPs研究进展

非综合征性唇裂伴或不伴腭裂是人类最常见的先天性畸形之一,是一种遗传、环境因素及两者相互作用所致的多基因多因素遗传疾病.单核苷酸多态性是新一代遗传标记,可被用来寻找各种致病基因,目前认为单核苷酸多态性及其特定组合可能是造成以多基因多因素遗传病为代表的复杂性状疾病易感性的重要原因.     

河北省0～6岁儿童唇腭裂发生情况及因素分析

目的:探讨唇腭裂的发生和干预措施。方法:利用2003～2008年河北省0～6岁儿童出生缺陷调查资料进行回顾性分析。结果:2003～2008年河北省0～6岁唇腭裂患儿2 529例,发病率为5.70/万;河北省唇腭裂发生呈逐年增加趋势,2003年与2008年唇腭裂发病率与6年平均发病率比较差异具有统计学意义(P<0.01);在河北省11个区市中以邯郸市发病率最高,为9.13/万,与6年平均发病率比较差异具有统计学意义(P<0.01);男孩发病率高于女孩,男女性别比为1.81:1,多胞胎发病率高于单胎,乡村发病高于城镇,山区高于平原;河北省0～6岁唇腭裂发生遗传因素占5.42%,母亲因素占33.93%,父亲因素占4.71%;有55.08%接受孕前优生健康检查,74.77%接受孕期保健;5.10%的唇腭裂儿童接受矫治手术。结论:河北省唇腭裂发病率仍处于较高水平,且呈逐年增加趋势。应采取全方位综合预防干预措施,重视孕前优生健康检查,加强孕期保健和做好新生儿筛查,并及时、适时地为出生缺陷患儿进行矫治,真正提高人口素质和生活质量。     

45例成年患者单侧完全性唇腭裂手术后上颌骨形态特征分析

目的：对成年患者单侧完全性唇腭裂手术后上颌骨的形态特征进行分析。方法：选取本院收治的45例成年单侧完全性唇腭裂患者（观察组）,采用X线头影测量方法进行测量,拍摄标准侧位头影测量片,选择有标志性的标志点及测量项目,并与同年龄段正常人（对照组）的测量值进行比较分析。结果：观察组∠SNA、∠SNB等8项指标与对照组比较差异有统计学意义（P〈0.05）。结论：唇腭裂手术患者较正常人有不同程度、不同表现形式的上颌骨发育受限;唇腭裂手术是影响单侧完全性唇腭裂患者上颌骨生长出现不同程度抑制的决定性因素。     

三维成像与计算机辅助软件在单侧牙槽突裂的应用进展

牙槽突裂植骨术是牙槽突裂修复的金标准,随着唇腭裂患者及其家属对牙列美观度要求的提升,该手术在唇腭裂序列治疗中日益受重视,而精确并快速地测量术前牙槽突缺损体积、协助外科手术及评估术后移植骨组织吸收率,是目前牙槽突裂植骨术研究的热点及难点。三维CT是骨组织评估的可靠检查工具,已有实验对单侧牙槽突裂植骨术前后的三维图像进行研究分析。计算机辅助工程(CAE)技术逐渐用于协助三维图像的测量与评估。通过阐述近年来三维成像与计算机辅助软件在牙槽突裂的研究及应用,归纳总结牙槽突裂治疗中,三维成像与传统二维成像的优缺点及计算机辅助软件在单侧牙槽突裂中的应用。     

Test of genetic heterogeneity of cleft lip with or without cleft palate as related to race and severity

The question of possible heterogeneity among population groups and phenotypic groups on the role of major gene in the etiology of cleft lip with or without cleft palate [CL(P)] was examined using the uniformly collected data in Hawaii. Complex segregation analysis was used to analyze patterns of family resemblance under the mixed model incorporating the effects of major gene and multifactorial inheritance. Analysis of the entire data showed superior fit of the mixed model including the effects of both major gene and multifactorial inheritance over the model of major gene alone or multifactorial inheritance alone. No significant heterogeneity could be detected between the high-incidence group (Oriental or Japanese) and the low-incidence group (non-Oriental) in the underlying general model, although higher heritability was observed in general. When families were classified into "severe" and "mild" phenotypes based on cleft lip vs. cleft lip and palate or unilateral vs. bilateral cleft in the proband, no significant differences could be detected between the two types in the underlying genetic model.     

胎儿唇腭裂产前诊断及预后研究现状

唇腭裂是最常见的颜面部畸形,对于该病的病因迄今尚未阐明,目前多认为该病是由于遗传、环境因素共同作用所致。中孕期通过超声、MRI等辅助检查方法可诊断胎儿唇腭裂。部分胎儿唇腭裂合并其他畸形,部分存在基因、染色体异常,影响患儿出生后生存质量及预后等,因此产前对胎儿唇腭裂的明确诊断至关重要。胎儿唇腭裂宫内手术治疗目前尚处于研究阶段,非综合征性唇腭裂(NSCL/P)患儿于婴幼儿期进行手术治疗后,多数可以康复。笔者拟就胎儿唇腭裂产前诊断及预后研究现状进行阐述,以提高临床对该病的诊治水平。     

The cleft team social worker

The birth of a child with significant medical problems poses challenges for most families. Congenital orofacial clefting is a common condition affecting families worldwide. Orofacial clefting requires long-term medical care and can affect multiple body systems. Having a child with a chronic medical condition such as cleft lip or palate creates many psychosocial ramifications for a family. This article describes the importance of medical social work involvement in the coordinated care for children with cleft lip and palate. Specific cases spanning prenatal care through adolescence are used to highlight the variety of complex psychosocial situations encountered in the multidisciplinary cleft team setting.     

非综合征型单纯腭裂遗传流行病学研究进展

单纯腭裂是一种较为常见的出生缺陷,其中非综合征型单纯腭裂（NSCPO）占50%。NSCPO是受遗传和环境共同作用的复杂疾病,与非综合征型唇裂伴或不伴腭裂（NSCL/P）不同,通过全基因组关联研究发现的与NSCPO相关的常见遗传变异相对较少。本文对NSCPO的遗传流行病学研究进展进行综述。根据现有研究证据将已发现的NSC...     

河北省5个县1993～1996年唇腭裂的流行病学特征

目的 描述河北省5个县1993-1996年先天性唇腭裂的流行病学特征。 方法利用1992年建立的“中美预防神经管畸形合作项目”出生缺陷监测的常规报告资料,研究河北省5个县1993-1996年孕满20周的总出生人群中唇腭裂(包括单纯腭裂、唇裂伴或不伴腭裂)在不同地区、不同时间、不同性别的患病率。 结果 1993-1996年河北省5个县唇腭裂患病率为2.08‰(144/69 131),其中单纯腭裂患病率为0.30‰(21/69 131),唇裂伴或不伴腭裂(唇裂+/-腭裂)患病率为1.78‰(123/69 131);唇腭裂患病率元氏县最高(3.35‰),香河县最低(1.66‰),1993年最高(2.70‰),1995年最低(1.68‰),2月、4月、8月、10月、12月份相对较高,没有明显的季节波动;男性唇腭裂患病率为2.30‰,女性为1.82‰,男女性比为1.38;男性和女性唇裂+/-腭裂患病率分别为2.08‰和1.43‰,二者比较差异有显著性(x2=4.14,P<0.05)。 结论 1993-1996年河北省5个县的唇腭裂患病率持续较高,并在出生人群中存在性别差异。提示本地区可能存在持续的环境危险因素暴露以及唇腭裂遗传性在性别上的差异。     

产前不同时期三维超声筛查胎儿唇裂的效果比较

目的 探讨产前不同时期三维超声筛查胎儿唇裂畸形的效果。方法 选择2007年8月至2014年6月在衡阳市第一人民医院进行产前检查并确诊胎儿为唇裂的孕妇31例,对其二维图像及三维成像进行对比,研究三维成像对胎儿唇裂的显示率及最佳显示时间。结果 31例唇裂中,孕14～19周5例,面部三维成像满意者3例,唇部结构清晰显示者2例（唇裂的三维超声显示率40．0％）;孕20～27周17例,面部三维成像满意或基本满意者15例,唇部结构清晰显示者15例（三维超声显示率88．2％）;孕28～34周6例,面部三维成像满意或基本满意者3例,唇部结构清晰显示者2例（三维超声显示率33．3％）;孕35周～39周3例,仅1例羊水过多患者面部三维成像满意,唇部结构显示清晰（三维超声显示率33．3％）。孕20～27周胎儿唇裂三维成像显示率明显高于孕14～19周（χ^2=5．119,P＝0．024）、28～34周（χ^2=6．933,P＝0．008）和35～39周（χ^2=4．804,P＝0．028）,差异均有统计学意义。三维成像满意显示的唇裂中Ⅰ度唇裂3例（15．0％）,Ⅱ度唇裂4例（20．0％）,Ⅲ度唇裂7例（35．0％）,唇裂合并上牙槽突裂3例（15．0％）,唇裂合并腭裂3例（15．0％）。结论 三维超声诊断胎儿唇裂存在明显的时限性,最佳时间为孕20～27周。