先天性腭裂并腭部皮赘1例

先天性唇腭裂患儿常伴有其它部位的先天畸形,如心脏畸形、多指(趾)畸形等.现将我院收治的一例先天性腭裂伴腭部皮赘的病例报告如下.     

小鼠腭发育及腭裂形成过程的渐进性观察

ＮＩＨ系孕鼠２１只，随机分为正常组和给药组。给药组于妊娠第１２天腹腔内注射５０ｍｇ／ｋｇ Ｄｅｘａｍｅｔｈａｓｏｎｅ ａｃｅｔａｔｅ，干扰鼠胚腭器官发育。二组孕鼠分别于妊娠第１２／１２、１３／１２、１４／１８、１５／１０、１５／１８、１６／０、１６／１８天／小时处死，共获得胚胎１８４只。取头部标本作冠状切片，ＨＥ染色，光镜观察，对胃腭器官的发育进行研究。提出了腭器官发育的六个时期，并认为妊娠第１３     

完全性腭裂患儿腭部形态15例观察

目的观察完全性腭裂患儿腭部形态特征。方法分析测量比较替牙期腭裂患儿术前与同年龄正常儿童上颌牙弓腭部的长度、宽度、深度和坡度值差异。结果2组的腭部深度和坡度数值存在有显著性差异(P<0.05),而长度及宽度无差异。结论替牙期完全性腭裂患儿术前腭部多呈高拱状。     

正常腭及先天性腭裂的对照解剖学研究

正常的腭部及咽部解剖结构是产生正常语音的基础。先天性腭裂整复手术的目的就是 :封闭腭部裂隙 ,恢复腭部生理功能 ,为正常语音创造条件。完善的腭咽闭合是获得正常语音的前提 ,而对腭部肌肉的功能性整复则是产生良好腭咽闭合的基础[1～ 4] 。近年来 ,在对正常及先天性腭裂腭部肌肉应用解剖学研究的基础上 ,使先天性腭裂患者的治疗效果有了显著的提高 ,并逐步形成了一整套比较完善的序列治疗方法[4,5] 。本文仅就近年对正常人及先天性腭裂患者的腭部肌肉应用解剖学研究进展作一综述。一、腭部肌肉的形态和功能参与腭咽闭合的肌肉包括腭肌与…     

小鼠腭发育及腭裂形成过程的渐进性观察

ＮＩＨ系孕鼠２１只，随机分为正常组和给药组。给药组于妊娠第１２天腹腔内注射５０ｍｇ／ｋｇＤｅｘａｍｅｔｈａｓｏｎｅａｃｅｔａｔｅ，干扰鼠胚腭器官发育。二组孕鼠分别于妊娠第１２／１２、１３／１２、１４／１８、１５／１０、１５／１８、１６／０、１６／１８天／小时处死，共获得胚胎１８４只。取头部标本作冠状切片，ＨＥ染色，光镜观察，对鼠腭器官的发育进行研究。提出了腭器官发育的六个时期．并认为妊娠第１３／２天／；小时～１４／１８天／小时是腭突上抬及水平生长期，腭突上抬延迟是腭裂产生的主要因素之一。     

Sox9在腭发育中作用的动物实验研究进展

<正>唇腭裂是由环境和遗传因素共同作用而导致的一种多基因遗传病。腭裂的发生是腭发育不正常的结果。腭发育过程中有原发腭与继发腭之分,它们都是由神经嵴来源的间充质细胞形成。原发腭在人类胚胎第7周(鼠胚第12.5天,简写E12.5)由两侧的中鼻突融合完全后而形成。继发腭的发育开始于人类胚胎第45天(短吻鳄胚胎为第17天、鸡胚为第6天,鼠胚为第11.5天[1]),双侧上颌突生长形成腭突,双侧腭突于舌两侧垂直向生长;人类胚胎第9周左右(鼠胚第14天,即E14.0),由于舌的下降、下颌发育,双侧腭突上抬,水平向生长向中线靠     

小鼠腭突正常发育与腭裂形成中差异cDNA文库的建立

目的建立小鼠腭突正常发育与腭裂形成中差异表达基因文库,揭示小鼠腭裂发生机制.方法 利用C57BL/6N小鼠腭裂模型,直接提取正常组及RA处理组发育形成期腭突组织中的mRNA,利用基于PCR的改良消减杂交技术,建立小鼠腭突正常发育时期与腭裂形成过程组织中差异表达基因文库.结果共获得阳性克隆597个,蓝色克隆168个,文库总浓度为7.6×102.结论有效地构建高容量的腭裂发生过程中差异表达文库,将在基因水平上明确腭裂发生机制提供有利的研究工具.     

β-连环蛋白及其在腭发生中的作用

腭发生是一个受多种基因调控的形态发生过程,任何异常调控都可能导致腭裂发生。目前,大量与腭发生相关的基因与细胞因子被发现,其中β-连环蛋白与无翅型小鼠乳房肿瘤病毒整合位点家族(WNT)形成WNT/β-连环蛋白信号转导通路,广泛参与腭的发生过程:WNT/β-连环蛋白与神经嵴细胞的形成和迁移分化密切相关,WNT/β-连环蛋白信号调节各面突的生长,参与头面部骨骼肌肉发育,调节腭板融合,调节腭皱的形成。本文就β-连环蛋白在腭发生的作用进行归纳与综述。     

Temporal and spatial expression of erbB4 in ectodermal and mesenchymal cells during primary palatogenesis in noncleft and cleft strains of mice

Primary palatogenesis in mice is similar to that in humans, and spontaneous cleft lip appears to be multifactorially determined in both. Binding of a ligand to erbB4 has been shown to stimulate the receptor's protein kinase activity, which subsequently stimulates a signal-transduction cascade leading to cell growth and differentiation, and to morphogenesis during development. In this study, an immunohistochemical technique was used to investigate the temporal and spatial expression of erbB4 in the primary palate of cleft (A/WySn) and noncleft strains of mice (BALB/cBy). Positive staining of erbB4 was found in ectodermal and mesenchymal cells of facial prominences before the primary palate formation stage (day 10, hour 20) in both strains. During the primary palate formation stage (day 11, hour 20), positive staining of erbB4 was found in the ectodermal and mesenchymal cells of the facial prominences of the noncleft strain, but not in those of the cleft strain. These results suggest erbB4 expression may be associated with normal primary palatogenesis of mice and, conversely, cleft lip may be associated with a deficiency of erbB4 expression during primary palate formation in mice.     

地塞米松和维生素B12对小鼠胚胎腭突发育早期成纤维生长因子10及其2b受体信号的影响

目的观察地塞米松和维生素B12作用后小鼠胚胎腭突成纤维生长因子10（Fgf10）及成纤维生长因子2b受体（Fgfr2b）信号的变化。方法将孕鼠分为致畸组、拮抗组和对照组,各组孕鼠分别注射地塞米松、地塞米松和维生素B12、生理盐水,胚胎12.5和13.5 d处死孕鼠并获取胚胎腭突,采用免疫印迹和BrdU染色的方法检测胚胎腭突Fgf10和Fgfr2b信号和间充质细胞增殖的变化。结果地塞米松作用后,小鼠胚胎腭突Fgf10和Fgfr2b表达显著下调,间充质细胞增殖抑制;维生素B12拮抗后,虽然Fgf10和Fgfr2b表达仍然下调,但间充质细胞增殖恢复。结论地塞米松和维生素B12影响小鼠胚胎腭突Fgf10和Fgfr2b表达和间充质细胞增殖,但二者的变化并不协调一致。     

Screening for maternal coeliac disease as a potential risk factor for orofacial clefts—a pilot study

There is increasing evidence that dietary folic acid deficiency in utero may increase the risk of developing the ‘cleft lip with or without cleft palate’ (CL ± P) variant of orofacial cleft. Coeliac disease is a common cause of folic acid malabsorption, and in the majority of cases remains undiagnosed. This pilot study assessed the seroprevalence of undiagnosed coeliac disease in a cohort of mothers of infants with CL ± P in the Hyderabad area of India. The seroprevalence of coeliac disease of 1.15% (95% confidence interval 0.37–2.66%) was little different from the expected figure based on published population studies, making a clinically significant association unlikely.     

唇裂或唇腭裂术后继发畸形二期整复后的并发症及预防

本文对唇裂或唇腭裂术后继发畸形二期整复后并发症产生的可能原因及预防措施进行了分析和评述,以期总结经验,减少并发症的发生。     

Maternal malnutrition, environmental exposure during pregnancy and the risk of non-syndromic orofacial clefts

Oral Diseases (2011) 17 , 584–589 Objective: To explore the risk factors of non‐syndromic orofacial clefts. Subjects and Methods: A case–control study was conducted in China, 537 infants born with non‐syndromic cleft lip with/without cleft palate, 176 infants born with cleft palate (CP), and 221 normal controls were recruited to participate in a questionnaire based study to identify risk factors related to maternal nutrition. Results: Single‐factor Chi‐square analysis identified 12 factors as significantly related to non‐syndromic orofacial clefts (P < 0.05). Multiple logistic regression showed five of these factors were associated with non‐syndromic orofacial clefts, male gender and maternal passive smoking during early pregnancy were risk factors for non‐syndromic orofacial clefts (OR = 1.86 and 11.42; 95%CI: 2.28–2.69 and 6.87–19.00, respectively), whereas maternal weight gain during pregnancy and folic acid supplementation during early pregnancy were protective (OR = 0.15 and 0.67; 95%CI: 0.034–0.63 and 0.44–1.00, respectively). Conclusions: Our data may provide references for cleft lip and CP prevention programs, and counseling programs in China.     

101例新生儿唇腭裂临床统计与病因分析

1961年1月1日～1995年12月30日,在武汉市第二医院住院分娩97685例活产新生儿中共检出唇腭裂101例,唇腭裂发生率为1.03‰,其中,唇裂占37.62％,腭裂18.81％,唇裂伴腭裂43.57％。统计学分析发现在不同胎次和不同新生儿体重组别中,唇腭裂的发生率有显著性差异(P<0.01)。推测唇腭裂畸形的发生与母体分娩过多,生殖机能减退,生殖器官衰老及胎儿的营养状况有一定关系。     

72例腭隐裂修复方式的回顾分析

目的：通过回顾性分析8年的腭隐裂修复治疗，寻求较合适的修复方法及修复时机。方法：1999年9月至2007年1月行腭隐裂修复的患者72例，男37例，女35例，年龄1-35岁，平均11．2岁。术后1个月复诊，检查伤口愈合情况，并进行语音评估。同时将72例患者按所接受的手术方法分为三组：Ⅰ组（腭成形术），Ⅱ组（改良咽后壁组织瓣转移术），Ⅲ组（腭咽成形术）；按手术年龄将其分为：〈4周岁；t〉4周岁、〈8周岁；≥8周岁三组，统计各组的构成比，及比较各组术后的腭咽闭合及语音情况。结果：术后穿孔的患者为3例（4．2％），69例患者术后接受了语音评估，1例（兰氏术后）仍遗留VPI。10例患者语音检测为正常（96．15％±2．11％），余58例患者腭咽闭合功能改善，但仍伴代偿性发音，需语音治疗。手术方式分组：Ⅰ组13例（18．1％），Ⅱ组46例（63．89％），Ⅲ组13例（18．1％）；年龄分组：〈4周岁7例（9．72％），t≥4周岁、但〈8周岁25例（34．72％），≥8周岁40例（55．56％）。〈4周岁的患者采用腭成形术最多，占57．1％，≥4周岁、但〈8周岁及≥8周岁的患者采用改良咽后壁组织瓣转移术的最多，各占68％，和70％。语音评估发现〈4周岁组的患者术后正常语音的比例最高，占71．4％，其次是t〉4周岁、但〈8周岁组，正常语音的比例为该年龄组的19．2％，VP完全，有代偿性发音的占76．9％，而大年龄组（≥8周岁），均伴有代偿性发音而需语音治疗。结论：小年龄组（〈4周岁）的腭隐裂修复术后语音效果较好，大年龄组（≥8周岁）的腭隐裂修复可首选咽成形术或腭咽成形术，术后须辅以语音训练，t≥4周岁、但〈8周岁的患者修复方式的选择可根据具体情况选用。