唇腭裂患者上颌骨牵引成骨术后发音方式的变化

目的:通过对行颅外支架式上颌骨牵引成骨术(rigidexternaldistraction,RED)唇腭裂患者治疗前后的错误发音数量变化、不同发音部位、不同发音方法以及不同类型错误发音发生特点及其变化评价,分析上颌骨RED对患者发音方式的影响。方法:1999年至2001年行上颌骨RED的唇腭裂术后上颌发育不足患者21例,其中男性13例,女性8例,平均年龄15.05岁。所有患者RED前后进行语音测听并分类。治疗前后错误发音的差异性用非参数检验。结果:RED术后42.9%患者错误发音数较RED前增加,19.0%减少,38.1%无变化。从发音部位,舌尖前音错误发音发生率最高,其次为舌面音。从发音方法,错误发音多发于塞擦音。错误发音类型以咽喉摩擦/爆破音为主,其次为腭化构音和声门爆破音。上颌骨RED后腭化构音累及音节数减少,但咽喉摩擦/爆破音和声门爆破音反而增加,尤其是咽喉摩擦/爆破音。结论:唇腭裂患者经RED前移上颌骨后,会对患者发音方式产生影响,在行语音治疗前需考虑全面。     

Myoepitheliomas of the soft palate: helical CT findings in two patients.

We describe the enhancement patterns of myoepithelioma in two patients with a soft palate mass. In the first case, helical CT revealed a faintly enhancing mass. Histologically, the tumor was composed of plasmacytoid cells in a background of rich myxoid stroma. Immunostaining for CD34 showed scanty blood vessels. In the second case, helical CT revealed an intensely enhancing mass. Histologically, the mass was a cellular tumor with fibrous stroma. Immunostaining for CD34 also showed frequent blood vessels.     

Autosomal recessive blepharoptosis,cleft lip/palate,dental anomalies,and ectrodactyly

Fluorescence in situ hybridization (FISH) with α-satellite DNA probes was used to study whole-arm chromosome translocation products in a family in which the propositus was shown to have a monosomy 18p/trisomy 20p imbalance. By this approach, we show that the chromosome 18 α-satellite DNA block is split into 2 smaller units, whereas the chromosome 20 breakpoint is not included within the α-satellite DNA region. We found no evidence to suggest that this split α-satellite DNA region has reduced or impaired the function of the centromere or that it contributed to the phenotype of the propositus. The FISH technique critically demonstrated the involvement of a whole-arm translocation in this case and provided accurate identification of breakpoints, which was not possible with standard banding techniques. © Wiley-Liss, Inc.     

Early parental adjustment to visible congenital disfigurement

Summary When a baby is born with a visible disfigurement, then parents need to adjust to the loss of the anticipated 'perfect' child and thus accept their baby. The impact of the birth on the parents is described in the context of a measure which identifies areas of potential difficulty. The two groups studied were parents of children with cleft palates and parents of children with congenital hand deficit. A wide range of adjustment was found. There was no significant difference between the two groups in terms of their overall adjustment, but there were individual differences in adjustment which did not relate to the severity or type of anomaly. The only significant variable found to relate to parental adjustment was perceived family support.     

早期腭裂修复术后瘘的发生率研究

目的 探讨婴儿期腭裂手术后瘘发生的规律。方法 对1995年7月～2001年9月期间施行的2～12个月龄的531例腭裂修复术后瘘发生率进行回顾性分析。结果 全组腭裂术后瘘发生率为4.9%，双侧完全性腭裂术后瘘发生率（7.8%），明显高于不完全性腭裂（4.4%），单侧完全性腭裂（4.3%,P＜0.01），后两组之间无显著性差别（P＞0.05）；术后瘘发生率与年龄，及本组所采用的不同术式无关（P＞0.05）；其中硬腭部瘘占完全性腭裂术后瘘率70%，较其它部位差异有非常显著性意义（P＜0.01）。结论 婴儿期腭裂手术并不会增加瘘发生率，对于双侧完全性腭裂，推荐做术前正畸治疗。     

关于软腭下降机制的肌电图学研究

目的探讨软腭的下降机制。方法将腭舌肌、腭咽肌设定为软腭下降肌,用肌电图学的方法进行验证。结果在软腭下降时腭舌肌、腭咽肌都出现了肌活动电位,另外,腭舌肌、腭咽肌在讲话时也参与了构音运动。结论腭舌肌收缩使软腭下降、鼻咽腔开放,腭咽肌由于具有咽绞扼功能,不但可使软腭下降,还与咽腔闭锁密切相关。     

腭裂儿童三位一体语音训练模式的构建

目的：评价家庭语音训练模式对腭裂术后患者语音康复的干预效果。方法：对16例患儿运用家庭-学校-医院三位一体的训练模式进行为期1年的家庭语音训练，通过语音清晰度评价疗效。结果：患儿语音清晰度平均提高36．06％，代偿性发音等腭裂音质明显改善。结论：家庭-学校-医院三位一体的训练模式对于校正腭裂术后患者的不良代偿性发音习惯有良好的效果。     

鼓室穿刺治疗腭裂渗出性中耳炎的临床评价

目的　探讨腭裂修复同期 ,鼓室穿刺对腭裂伴分泌性中耳炎患者中耳功能及听力损失的影响。方法　将 80例 ( 14 6耳 )患有分泌性中耳炎的腭裂患者 ,随机分为实验组 ( 78耳 ) :常规腭裂修复术 ,术毕作鼓室穿刺。对照组 ( 68耳 ) :单纯腭裂修复术。术后 6个月两组均进行鼓室图、脑干听觉诱发电位检查 ,并进行比较。结果　实验组术后无论与术前比较 ,还是与对照组术后比较 ,鼓室图、V波反应阈值及轻、中度听力损失 ,均有显著进步 (P <0 0 1) ;术后半年内实验组听力恢复早 ,而且治愈率高 ( 96 2 % ,75 /78) ,明显优于对照组 ( 3 8 2 % ,2 6/68)。结论　腭裂修复同期鼓室穿刺 ,不仅有助于改善伴有分泌性中耳炎腭裂患者的中耳功能 ,提高听力 ;而且可避免或减少粘连性中耳炎的发生     

The Van der Woude syndrome: a case report and review of the literature

The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with bilateral lower lip pits. These congenital lip pits appear clinically as a malformation in the vermilion border of the lip, with or without excretion. As a genetic defect has been identified as a microdeletion of chromosome bands 1q32-q41, genetic counselling of patients may be considered. A nonsense mutation in the interferon regulatory factor-6 (IRF-6) is discussed as a pathogenic relevant factor. Therapeutic intervention is generally not necessary, although surgical excision is especially indicated in patients with recurrent inflammation. Physicians should be aware of the Van der Woude syndrome because it has been reported to be associated with a variety of malformations or other congenital disorders.     

Anaesthesia for primary repair of cleft lip and cleft palate: a review of 244 procedures

The peri-operative course of 194 patients undergoing 244 procedures for primary repair of cleft lip and palate over an 8-year-period was studied. A marked increase in the extent of intra-operative monitoring was noted during this period. The Pierre Robin syndrome was the most common associated abnormality and was found in 17% of patients in this series. There were no deaths. A total of 101 procedures were undertaken in infants with cleft lip of whom 10% received an intra-operative blood transfusion. Post-operative opiate analgesics were administered following 97% of these procedures and profound respiratory depression was observed in three children. The use of lignocaine and noradrenaline did not significantly reduce the operative blood loss. A post-operative pyrexial illness was significantly associated with the presence of a positive pre-operative nasal and throat swab and this could be significantly reduced by pre-operative antibiotic treatment. A total of 143 children underwent repair of cleft palate and of these 16.8% received an operative blood transfusion. An elective tracheostomy was required in one patient because of unsuccessful attempts at endotracheal intubation. One patient developed a respiratory arrest after two doses of diamorphine peri-operatively. The use of lignocaine and noradrenaline significantly reduced the operative blood loss. The presence of a positive bacteriological nose or throat swab did not influence the development of a post-operative pyrexia which could however be significantly reduced by the use of pre-operative antibiotics.