鼓室置管对婴儿期腭裂患者中耳功能障碍的治疗效果

目的比较鼓室置管和鼓膜穿刺术治疗婴儿期腭裂患儿分泌性中耳炎（SOM）的效果,探讨腭裂中耳功能障碍的最佳治疗方法和早期干预时机。方法19例患SOM伴听力损失的婴儿期腭裂患儿的38耳在唇裂修复术同期行鼓室置管术,平均置管年龄为6.9月龄;15例患SOM的婴儿期腭裂患儿30耳行鼓膜穿刺术,平均穿刺年龄为6.6月龄。术后1周至12个月内于每个月行听性脑干反应（ABR）和声导抗检查作为判断指标,比较两种手术的疗效。结果38耳鼓室置管术前ABR Ⅴ波平均阈值为55.41 dBnHL,术后1周～12个月的平均值为28.48 dBnHL,术后听力提高26.93 dBnHL。置管术后峰压点平均升高90.72 daPa,坡度：比值法升高0.01,压力范围法降低84.00 daPa,静态声顺值平均升高0.04 mL;B型鼓室图（24耳）转化为A型者19耳,转化率为79.17%。30耳鼓膜穿刺术前ABR Ⅴ波平均阈值为40.63 dBnHL,术后1周为26.50 dBnHL,听力提高14.13 dBnHL。穿刺后1周B型鼓室图（22耳）转化为A型者9耳,转化率为40.91%;穿刺后1月和3月ABR Ⅴ波阈值和鼓室图与穿刺术前比较无统计学差异（P>0.05）。结论鼓室置管术治疗婴儿期SOM,听力恢复快且疗效稳定,虽有发生并发症的可能,但仍是较好的治疗手段;鼓膜穿刺术在1周内的疗效较好,但复发率高,最好不作为婴儿期腭裂SOM的常规治疗手段。     

腭裂中耳功能异常的综合评估及治疗方案的优化探讨

目的 探讨腭裂伴中耳功能异常的综合评估策略,优化诊治程序,进一步提高腭裂的综合治疗效果。方法 对腭裂患者中耳功能异常的469侧患耳进行声导抗测试,对中耳积液与鼓室图、鼓室压及听力的关系进行统计分析。对其中62例唇腭裂患儿的124侧患耳鼓室图变化进行为期1年的动态监测。结果 鼓室图为B、C、异型者积液率分别为50.3%（97/193）、34.8%（8/23）和20.9%（53/253）。异型积液患耳的鼓室压与无积液患耳的鼓室压之间差异无统计学意义（P>0.05）。B型且有积液的患耳听力损失高于无积液患耳（P=0.001）,异型鼓室图患耳积液与听力损失不相关（P>0.05）。唇腭裂患者在唇裂修复术至腭裂整复术期间,其中耳各型鼓室图构成比无差异（P>0.05）。结论 各型异常鼓室图积液率不同。鼓室压低于-150 dapa的异常鼓室图患耳应穿刺排查。B型鼓室图且有积液的患耳很可能影响听力,应在腭裂整复术中同期行鼓膜切开置管术;异型鼓室图患耳,即使有积液,也可暂保守治疗,暂不置管,但需密切随访。选择在腭裂整复术时置管并不会延误治疗时机。     

宁夏地区非综合征型唇腭裂环境因素的研究

目的 探讨宁夏地区非综合征型唇腭裂（NSCL/P）发病相关环境因素。方法 采用病例对照研究方法纳入NSCL/P患者453例,正常新生儿452例。对研究对象进行问卷调查,利用SPSS 16.0统计软件对数据进行卡方检验和Logistic回归分析。结果 NSCL/P患病类型构成比为唇裂︰唇裂合并腭裂︰腭裂=1︰2.02︰1.51。Logistic回归分析显示妊娠期发生异常、妊娠期感染、流产史、孕前孕中服用药物、饮茶、吸烟、饮酒、居住地附近工厂为危险因素（P<0.05）。单胎、早孕反应、食用豆制品食物、水果为保护因素（P<0.05）。结论 加强母亲孕期饮食均衡,避免感染、流产、服用药物以及不良生活习惯对降低NSCL/P的发生具有重要意义。     

语音训练在腭裂术后患者语音恢复中的价值

为探讨语音训练在腭裂术后患者语音恢复中的作用，本研究应用计算机语音信号分析系统对经语音训练的26例腭裂术后患者进行单元音头三个共振峰频率测试，语音训练重点对唇的协调性，舌的灵活性及下颌运动的准确性训练、结果表明，腭咽闭合完全者经语音训练代偿性不良习惯已基本矫正，语音清晰度显著提高。本文指出腭裂术后患者必须在腭咽闭合的基础上，语音训练才能打破异常的神经─肌肉模式，矫正代偿性不良发音习惯，获得清晰准确的语音。     

中国腭裂语音治疗的现状与思考

通过对近20年来中国在腭裂语音障碍的评价和语音治疗的临床及研究工作方面的回顾总结,分析了在腭裂语音评价和语音治疗方面所开展的工作以及取得的进展;对该领域有争议的问题,如腭咽闭合功能的恢复训练、边缘性腭咽闭合治疗方案的选择等提出看法和建议;强调对中国语音治疗师队伍的系统性、专业性培养,强调加强学术交流与沟通的重要性;同时,建议有关部门和政策管理者在语音治疗专业技术职称评定和专业人员的待遇等方面给予更多的支持和帮助。     

中国腭裂语音治疗的现状与思考

通过对近20年来中国在腭裂语音障碍的评价和语音治疗的临床及研究工作方面的回顾总结,分析了在腭裂语音评价和语音治疗方面所开展的工作以及取得的进展;对该领域有争议的问题,如腭咽闭合功能的恢复训练、边缘性腭咽闭合治疗方案的选择等提出看法和建议;强调对中国语音治疗师队伍的系统性、专业性培养,强调加强学术交流与沟通的重要性;同时,建议有关部门和政策管理者在语音治疗专业技术职称评定和专业人员的待遇等方面给予更多的支持和帮助.     

中国北方人群非综合征性唇腭裂与BMP4基因多态性的关系

目的探讨BMP4基因rs17563多态性与中国北方人群非综合征性唇腭裂的相关性。方法使用聚合酶链反应-限制性内切酶片段长度多态性分析(PCR-RFLP)方法,在116例非综合征性唇腭裂患者和123名健康对照中,对BMP4基因单核苷酸多态性进行检测。利用SPSS13.0软件分析BMP4基因多态性与非综合征性唇腭裂的相关性。结果 BMP4基因型频率分布符合Hardy-Weinberg平衡。在非综合征性唇腭裂组中CC纯合子明显高于健康对照组,差异有统计学意义(P<0.001)。结论 BMP4基因rs17563多态性可能与中国北方人群非综合征性唇腭裂的发生相关。     

Predictors of speech outcomes in children with Pierre Robin sequence

Backgound

Pierre Robin sequence (PRS) has worse speech outcomes than isolated cleft palate. We aimed to search for possible associations of phonological outcomes with PRS status (isolated vs syndromic), clinical severity, soft palate muscles deficiency, or surgical procedure.

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目的    研究亚甲基四氢叶酸还原酶（MTHFR）基因 C677T多态性与山东地区非综合征性唇腭裂（NSCL／P）的相关性。方法    于2008 年 9月在山东省优生技术重点实验室采用聚合酶链反应-限制性片段长度多态性（ PCR-RFLP）分析,对2006 年8月至2008年8月曾在齐鲁医院治疗的来自山东地区NSCL／P患儿家庭34户和健康查体的正常儿童家庭46户的家庭成员MTHFR基因的C677T基因型进行检测。结果    携带T等位基因的父母,其子代患NSCL／P的危险性是不携带T等位基因父母的子代的2.420倍;母子都是TT突变纯合子,子代患NSCL／P的危险性是母子为非TT纯合子的4.162倍;子代是TT突变纯合子患NSCL／P的危险性是非TT纯合子的3.812倍。结论    山东地区NSCL／P与MTHFR基因 C677T的多态性相关,与父母的基因型存在联系;T基因在母子组合的研究中有统计学意义,父母传递给子代的T等位基因对后代的患病有重要作用。     

腭裂伴发渗出性中耳炎的研究进展

腭裂患儿常伴发渗出性中耳炎等中耳疾病,间接影响患儿听力及语音发育,其诊治是唇腭裂综合序列治疗中的重要组成部分。该文回顾近年来相关的文章,从临床流行病学发病特点、发病机理及转归、临床表现、治疗方案等方面对腭裂伴发渗出性中耳炎的研究进展做一综述。     

The incidence of congenital anomalies associated with cleft palate/cleft lip and palate in neonates in the Konya region, Turkey

Additional congenital anomalies have often been found in patients with orofacial clefts. We wanted to find out the incidence and type of congenital malformations that may accompany cleft palate (CP) and cleft lip and palate (CLP) in babies born in the Konya region. A total of 121 newborn babies with CP or CLP were prospectively included in the study, and all were assessed in detail for congenital anomalies. Of 121 babies, 86 (71%) had CLP and 35 (29%) had CP. There was at least one congenital malformation in 80 (66%) of the cases. Additional congenital malformations were seen in 26 (74%) of the 35 with isolated CP, and 54 (63%) in the 86 patients with CLP (p<0.05). The most common congenital malformation was congenital heart disease, followed by head and neck anomalies. The most common congenital heart disease was atrial septal defect. A serious chromosomal anomaly was found in 18/121 patients with CP or CLP (15%). Of the 80 babies in whom congenital malformations were found, 31 (39%) had dysmorphic features. While 21 (68%) of dysmorphic cases had isolated CP, 10 (32%) had CLP (p<0.05). The rates of premature delivery, intrauterine growth retardation, and consanguinity between parents were higher in patients with CP or CLP. The neonatal mortality was 20% (n=24). Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with CP and CLP, and these anomalies significantly increase their morbidity and mortality. All newborn babies with CP and CLP should be screened for additional congenital anomalies, particularly of the cardiovascular system.     

腭裂与非腭裂患儿分泌性中耳炎临床治疗效果的比较

目的 探索腭裂患儿分泌性中耳炎（SOM）的治疗方法。方法 选择3~14岁先天性腭裂合并SOM的患儿319例（524耳）设为试验组,根据中耳积液性状分为3组：A组为浆液性积液,112例（198耳）;B组为黏液性积液,162例（248耳）;C组为中耳负压无积液,45例（78耳）。同时选择年龄相当的腺样体合并扁桃体肥大伴SOM患儿208例（246耳）设为对照组,同样根据积液性状分为对应的A1、B1、C1组。两组患儿分别进行腭裂修复术和腺样体、扁桃体切除手术后,对A、A1组进行鼓膜穿刺,B、B1组进行鼓室置管,C、C1组行鼓膜穿刺;术后均辅助药物治疗。比较各组SOM的治愈率和复发率。结果 术后12个月,试验组总治愈率为77.29%（405/524）,总复发率为14.57%（59/405）,对照组总治愈率为93.09%（229/246）,总复发率为3.93%（9/229）,对照组SOM治愈率明显高于试验组,复发率明显低于试验组（P<0.05）。试验组治疗过程较对照组复杂,一次性治愈率低,需行反复、多次治疗。结论 腭裂患儿SOM的治疗方法与普通中耳炎有较大差异,应对腭裂SOM予以专门检查,开展特异性治疗。根据鼓室积液性状,反复鼓膜穿刺或6个月以上的鼓室置管是较好的治疗方法。     

Otitis media with effusion in Nigerian children with cleft palate: incidence and risk factors

Otitis media with effusion is common in children with cleft palate, and the aim of this study was to find out its incidence and risk factors in Nigerians. We prospectively studied 84 patients (42 with cleft palate and 42 control subjects); 27 were male and 15 female, who were age and sex matched with control subjects. The extent and size of the clefts were measured using a dental cast and Vernier calipers, and the otitis media was diagnosed with otoscopy and tympanometry. The mean (SD) age of the groups was 11 (7) months (range 1–33). Twelve children in the cleft group had otitis media compared with three in the control group. Infants and boys were more likely to be affected. There was a significant association between age (p = 0.02), sex (p = 0.01), and size of cleft (p = 0.00). However, only the size of the cleft was confirmed to be an independent predictor, with children who had extremely wide clefts being more likely to develop otitis media than those with narrow clefts (OR = 8.71, 95%CI = 1.07 to 70.5).We conclude that the incidence of otitis media with effusion was higher among children with cleft palate than among those who did not have a cleft. Infants had a higher incidence than older children, and boys had a higher incidence than girls. Age, sex, and the size of the palatal cleft were significantly associated with otitis media, but not the extent of clefting.     

唇腭裂患者前牙区恒牙的发育异常

唇腭裂是口腔颌面部最常见的先天畸形,常伴发各种恒牙发育异常,尤其是靠近裂隙的前牙区.相较国外,目前国内对此的研究缺乏,本文对调查唇腭裂患者中切牙、侧切牙和尖牙区的形态、数目、萌出异常和牙根发育等各类发育异常的文献作回顾性概述,为临床医师早期酌情涉入治疗和适当降低序列治疗的难度和复杂性提供依据.     

Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China

ObjectivePrevious studies have suggested an association between several polymorphisms of the BMP4 gene and susceptibility to non-syndromic cleft lip with or without cleft palate (NSCL/P) in various populations. However, this association may vary according to ethnic group and the form of NSCL/P. This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China.MethodsThis case-control study included 165 patients with NSCL/P (53 patients with CPO, 52 with CLO, and 60 with CLP) and 52 healthy volunteers. Peripheral blood samples were collected from all subjects to genotype the rs762642, rs17563, and rs10130587 polymorphisms by direct sequencing. Genotype and allelic frequencies of these polymorphisms were compared between healthy volunteers and patients with various forms of NSCL/P.ResultsThe genotype and allelic frequencies of rs762642 differed significantly between subgroups (CPO and CLP) and normal controls, whereas a significant difference was observed only in the CLO subgroup for the rs17563 polymorphism and in the CLO and CLP groups for the rs10130587 polymorphism. In addition, we identified a novel association of a BMP4 gene polymorphism, which was in linkage disequilibrium with the rs10130587 polymorphism, with CLO and CLP.ConclusionThe BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 exhibit different associations with different forms of NSCL/P, suggesting that different forms of NSCL/P may have different etiologies.     

Linkage analysis between BCL3 and nearby genes on 19q13.2 and non-syndromic cleft lip with or without cleft palate in multigenerational Japanese families

OBJECTIVE: To investigate the linkage between candidate genes on chromosome 19 and cleft lip with or without cleft palate in Japanese using a parametric method. MATERIALS AND METHODS: After informed consent was obtained, blood samples were drawn from 90 individuals in 14 families, 30 of whom were affected, and genomic DNAs were extracted. PCR-amplified products using four microsatellite markers, D19S178, BCL3, APOC2[007/008] and APOC2[AC1/AC2] located in 19q13.2, were separated by 8% polyacrylamide gel electrophoresis. Linkage analysis was carried out using the MLINK and LINKMAP programs, and logarithm of odds (LOD) scores were calculated for each family. RESULTS: Before undertaking linkage analysis, we analyzed 74 healthy Japanese subjects and found racial differences in that the observed number of alleles and their heterozygosity were lower in Japanese than in Caucasians, and that both populations tended to show a different allele distribution. In 14 families, two-point maximum LOD score (Zmax) for BCL3 was 0.341 and multi-point Zmax was less than -2 excluding linkage. But in 9 families with left and bilateral CL/P, two-point Zmax for APOC2[AC1/AC2] was 1.701 and multi-point Zmax at APOC2 locus was 1.909. CONCLUSION: The LOD score was relatively high but provided no evidence of linkage for CL/P to BCL3 and nearby genes in Japanese subjects.     

Genotype and haplotype analysis of WNT genes in non-syndromic cleft lip with or without cleft palate

The wingless-type MMTV integration site family (Wnt) signalling pathway plays a crucial role in craniofacial development. Recently, nucleotide variants in WNT genes have been shown to be associated with oral congenital anomalies, including facial clefts. Therefore, in the current study we decided to assay the association of nucleotide variants in selected WNT genes with the risk of non-syndromic cleft lip with or without cleft palate (NCL/P) in the Polish population. Fourteen polymorphisms in WNT3, WNT3A, WNT5A, WNT8A, WNT9B, and WNT11 were tested in a group of 210 patients with NCL/P and in a properly matched control group. The most significant results were found for the WNT3 rs3809857 variant, which, under the assumption of a recessive model, was associated with a two-fold decrease in the risk of NCL/P (OR(TT vs. GT + GG) = 0.492, 95% CI: 0.276-0.879, P = 0.015). Moreover, haplotype analysis revealed that WNT3 is significantly correlated with NCL/P. The global P-values for haplotypes of rs12452064_rs7207916 and rs3809857_rs12452064_rs7207916 were 0.0034 and 0.0014, respectively, and these results were statistically significant, even after the permutation test correction. In conclusion, our study confirmed the involvement of polymorphisms in the WNT3 gene in NCL/P aetiology in the tested population.     

中国人群非综合征性唇腭裂患者IRF6基因突变检测

目的 探讨干扰素调节因子6(interferon regulatory factor 6, IRF6) 在非综合征性唇腭裂(non-sydromic cleft lip and/or cleft palate,NSCL/P)患者中的突变情况。方法：收集119例NSCL/P患者及288名健康人对照样本的外周血血样并提取DNA。在IRF6基因的全部外显子分别设计引物,PCR扩增其序列,通过测序找出IRF6基因突变,并将这些突变在对照样本中进行验证。结果：共发现5种在正常人中没有的突变,其中4种是新发现的突变。结论：IRF6基因突变在中国人群中参与了非综合征唇腭裂疾病的发生。