THADA基因多态性与非综合征性唇腭裂的相关性研究

目的:探讨中国北方人群甲状腺腺瘤相关基因(THADA) rs7590268、rs13035011和rs6729902位点单核苷酸多态性(SNPs)与非综合征性唇腭裂(NSCL/P)的相关性。方法:应用聚合酶链式反应-连接酶检测反应(PCR-LDR)检测方法,在335例NSCL/P患者和525例健康体检者中,对THADA基因的rs7590268、rs13035011和rs6729902位点进行检测。结果:rs7590268和rs6729902多态性位点等位基因频率在唇裂组与对照组间的分布差异有统计学意义(P＜0.05),rs13035011位点基因型及等位基因频率在病例组和对照组间的分布差异无统计学意义。结论:THADA基因的rs7590268和rs6729902位点单核苷酸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。     

MTR基因rs1805087位点多态性与非综合征性唇腭裂的关联性研究

目的:研究蛋氨酸合成酶(methionine synthase,MTR/MS)基因rs1805087位点单核苷酸多态性与山西人群非综合征性唇腭裂(NSCL/P)的相关性。方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对135个NSCL/P核心家庭、150例正常新生儿及其母亲的MTR基因rs1805087位点多态性进行检测;用人群关联研究、病例组核心家庭的传递不平衡检验(TDT)和单体型的相对危险度(HHRR)进行统计分析。结果:本研究中GG基因型较少,故将AG和GG基因型合并后与AA基因型比较。病例组子代及母亲和对照组之间,基因型分布和等位基因频率比较,差异均无统计学意义(P>0.05);唇裂组和唇腭裂组子代及母亲基因型分布和等位基因频率,与对照组差异均无统计学意义(P>0.05);病例组核心家庭分析,TDT检验χ2=0.083,P>0.05,HHRR分析χ2=0.112,P>0.05,说明携带有突变基因G并不能增加NSCL/P的发病风险。结论:本研究结果未显示MTR基因rs1805087位点多态性与山西人群非综合征性唇腭裂之间存在相关性。     

山西人群MTHFR基因rs1801133位点多态性与非综合征性唇腭裂的关联性研究

目的:研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因rs1801133位点多态性与非综合征性唇腭裂(NSCL/P)的关系。方法:采用聚合酶链反应-限制性片段长度多态性方法,检测334例非综合征性唇腭裂患者和314例正常对照组的MTHFR基因rs1801133位点的多态性。结果:MTHFR基因rs1801133位点基因型频率分布符合Hardy-Weinberg平衡;MTHFR基因rs1801133位点基因型及等位基因的分布在NSCL/P组与对照组之间均无统计学意义(P>0.05)。结论:MTHFR基因rs1801133位点多态性与山西人群非综合征性唇腭裂的发生无关。     

非综合征型唇腭裂与MTHFR基因多态性的相关性研究

目的：研究亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因位点C677T和A1298C与中国江苏地区汉族人群非综合征型唇腭裂（（nonsyndromic cleft lip with or without cleft palate,NSCL/P）发生的相关性。方法：采用聚合酶链反应-限制性片段长度多态性检测法对200例NSCL/P患者和213例健康人进行基因型检测。结果：MTHFR C677T对照组与病例组在基因型分布无统计学差异（P〉0.05）,TT基因型和携带T等位基因儿童罹患NSCL/P的风险分别是CC基因型儿童的1.84倍及1.57倍。进一步分层分析发现TT基因型和CT基因型能分别显著增加儿童唇裂伴或不伴腭裂和单纯性唇裂的发病风险。MTHFR A1298C病例组和对照组在基因型频率和等位基因频率有统计学差异（P〈0.05）,AC基因型和携带C等位基因的儿童罹患NSCL/P的风险分别比AA基因型儿童降低49%及43%。分层分析中,AC基因型和携带C等位基因可降低罹患唇裂伴腭裂及唇裂伴或不伴腭裂的风险。结论：MTHFR C677T可能为中国江苏地区汉族儿童NSCL/P的危险因素,而MTHFR A1298C有可能是NSCL/P发生的保护因素。     

�Ǽ׻�����Ҷ�ỹԭø����A1298C��̬����ɽ����Ⱥ���ۺ����Դ�����������о�

目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因A1298C多态性与山西人群非综合征性唇腭裂（nonsyndromic cleft lip with or without cleft palate,NSCL／P）的相关性。方法选取2010年9月至2012年4月山西地区150例NSCL／P患者及其父母作为病例组（其中有135个完整的NSCL／P核心家系）,150例正常新生儿作为对照组,应用聚合酶链式反应一限制性片段长度多态性（PCR—RFLP）分析方法,对MTHFR基因A1298C位点的多态性进行检测,利用人群关联研究分析、病例组核心家系的传递不平衡检验（TDT）、单体型的相对危险度（HHRR）分析来研究该突变与NSCL／P的相关性。结果病例组和对照组人群基因型均未偏离Hardy-Weinberg遗传平衡定律（P〉0．05）;病例组与对照组进行子代间比较,AA、AC、CC3种基因型分布差异有统计学意义（P〈0．05）,A等位基因和c突变等位基因的分布差异均有统计学意义（P〈0．05）;NSCL／P核心家系TDT检验,差异有统计学意义（P〈0．05）,表明突变等位基因c存在着传递失衡的现象;HHRR检验结果表明,MTHFR基因A1298C位点多态性由双亲传递给患病子女的等位基因（C／A）频率差异有统计学意义（P〈0．05）。结论MTHFR基因A1298C位点多态性与山西人群NSCL／P的发生存在关联。     

亚甲基四氢叶酸还原酶C677T多态性与非综合征性唇腭裂的关系

目的研究亚甲基四氢叶酸还原酶基因C677T多态性与非综合征性唇腭裂的关系。方法利用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP）,在168例非综合征性唇腭裂患者和192名正常对照中,对MTHFR基因C677T单核苷酸多态性（SNP,rs1801133）进行检测。利用拟合优度卡方检验,分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用UNPHASED软件包分析多态性位点与非综合征性唇腭裂的相关性。结果MTHFRC677T多态性基因型频率分布符合Hardy-Weinberg平衡;MTHFR C677T等位基因分布在NSCL／P组与对照组之间有显著性差异（P〈0.05）,正常组中T等位基因的频率明显高于NSCL／P组。结论MTHFR C677T多态性位点在中国人群中与非综合征性唇腭裂形成的发生相关联。     

白细胞介素8基因-251位点多态性与侵袭性牙周炎的相关性研究

目的研究白细胞介素8（interleukin-8,IL-8）-251位点基因多态性与侵袭性牙周炎易感性的相关性。方法采用病例对照试验设计,从广东汉族人群中选择77例侵袭性牙周炎（aggressive periodontitis,AgP）患者（AgP组）及50例牙周健康者（健康对照组）,采用聚合酶链反应—限制性内切酶片段长度多态性方法对IL-8-251位点基因进行检测,分析组间等位基因和基因型频率的分布差异。结果 IL-8-251A/T位点的基因型和A、T等位基因频率在AgP组和健康对照组的分布差异无统计学意义（P〉0.05）。结论未发现IL-8-251A/T位点基因多态性与中国广东汉族人群侵袭性牙周炎的患病易感性之间存在相关性。     

转化生长因子β1基因-509位点多态性与重度慢性牙周炎易感性的关系

目的 探讨转化生长因子β1(transforming growth factor beta-1,TGF-β1)基因-509位点多态性与重度慢性牙周炎易感性的关系,以期从基因水平探讨牙周炎发病的遗传学机制.方法 用聚合酶链反应-限制性片段长度多态性方法检测102例重度慢性牙周炎患者(牙周炎组)和102名健康对照者(健康对照组)的TGF-β1基因-509位点,比较两组间此位点基因型分布和等位基因频率的差异.结果 TGF-β1基因-509位点CC、CT、TT基因型在牙周炎组和健康对照组的分布频率分别为44.1%(45/102)、47.1%(48/102)、8.8%(9/102)和29.4%(30/102)、51.0%(52/102)、19.6%(20/102),两组人群基因型分布频率差异有统计学意义(P＜0.05);等位基因C、T在牙周炎组和健康对照组分布频率分别为67.6%(138/204)、32.4%(66/204)和54.9%(112/204)、45.1%(92/204),两组人群的等位基因分布频率差异亦有统计学意义(P＜0.05),C等位基因携带者患重度慢性牙周炎的风险是T等位基因的1.718倍(OR=1.718,95%CI:1.148～2.569).结论 TGF-β1基因-509位点多态性与重度慢性牙周炎的发病具有相关性,C等位基因可能是重度慢性牙周炎的遗传易感基因.     

白细胞介素13基因-1112C/T多态性与慢性牙周炎的相关性研究

目的 探讨白细胞介素13(interleukin-13,IL-13)基因启动子区-1112C/T多态性与慢性牙周炎易感性的相关性.方法 采用病例对照试验设计,慢性牙周炎患者110例(慢性牙周炎组)和牙周健康者106例(健康对照组),聚合酶链反应-限制性片段长度多态性方法检测两组患者IL-13基因-1112位点基因型和等位基因分布特点.结果 IL-13基因-1112位点C、T等位基因频率(x2=0.886,P=0.347)及基因型频率(x2=1.982,P=0.371)在两组间分布差异无统计学意义.结论 IL-13基因-1112位点的多态性与汉族人群慢性牙周炎的易感性无明显相关性.     

MSX1基因多态性与山西地区非综合征性唇腭裂的相关性研究

目的:研究MSX1基因外显子区rs13127820(M146L)、rs62636562(A274V)位点多态性与非综合征性唇腭裂(non-syn-dromic cleft lip with or without cleft palate,NSCL/P)的关系。方法:通过聚合酶链反应-限制性片段长度多态性方法,检测243例非综合征性唇腭裂(NSCL/P)患者和292例正常对照者全血标本中MSX1基因rs13127820(M146L)、rs62636562(A274V)位点的多态性。结果:MSX1基因位点rs13127820(M146L)、rs62636562(A274V)基因型频率分布符合Hardy-Weinberg平衡;MSX1基因位点rs13127820(M146L)、rs62636562(A274V)等位基因频率分布在NSCL/P组与对照组之间差异有统计学意义(P<0.05)。结论:结果显示MSX1基因位点多态性与NSCL/P的发生有关。     

Obturators for cleft lip and cleft palate

Cleft Lip and palate are most common congenital anomalies of the faces. Infants born with cleft lip and palate always have feeding problem. They were referred to dentists for obturators. Obturators usually have definite retention, lead to easily dislodgement. The author suggested the method of fabricating more retentive obturator.     

Reoperations in cleft lip and cleft palate treatment

The surgical management of cleft lip and palate is a difficult and complex endeavor. Several surgical techniques for the treatment of this deformity have been described around the world; each one, when properly done by expert surgeons, renders good and predictable results most of the times. However, the fact that there are so many techniques means that there is no universal procedure that will always deliver great esthetic and functional results. This article discusses the causes of inadequate results in primary cleft lip and palate surgery and describes the various secondary surgical techniques to correct the same.     

Feeding infants with cleft lip, cleft palate, or cleft lip and palate

In assessing 143 infants with cleft lip and palate, we found feeding problems to vary with the patients' anatomic lesion. Effective feeding techniques were identified by first assessing the infant's ability to generate negative intraoral pressure and to move the tongue against the nipple and then by matching these deficits to appropriate feeding devices.     

Syndromes with cleft lip and cleft palate.

A series of tables is presented as a diagnostic aid for the clinician when he confronts a patient who has a cleft lip and/or palate, together with associated anomalies. The tables provide a rapid way of sorting through the recognized syndromes with orofacial clefting in search of a possible overall diagnosis. Today, 154 such syndromes are recognized. This is more than twice as many as were known in 1971. Undoubtedly, many new syndromes with orofacial clefting will be delineated in the future.     

B group vitamins and cleft lip and cleft palate

B group vitamins including folic acid supplementation during pregnancy have been shown to be effective in preventing cleft lip and palate (CLP) in humans. The clinical trials for the prevention of malformation have been mostly empirically based. The aim of the present study was directed toward the elucidation of the mechanisms underlying the preventive measures. The teratogenic potency of vitamin deficiency over the whole period of gestation (days 1-18) and of food restriction during the critical period of palatogenesis (days 12 and 13) were investigated in the genetically different strains of NMRI and A/WySn mice. Furthermore the potential benefit of vitamin B supplementation/treatment in the genetically susceptible CLP strain was demonstrated for comparison with former work on a teratogenetically induced cleft palate model. The results illustrate the higher susceptibility of the NMRI strain to the teratogenic action of deficiency (increase of the CP rate from 3.8% to 25%) in contrast to A/WySn mice, which actually have a high spontaneous but relative teratogenic-resistant clefting rate (28-44%). A deficiency of each of the individual B vitamins is teratogenic, however total B group deficiency has the strongest effect in the case of deficiency of all B vitamins. This produces up to 25% cleft palates in the NMRI strain. Alternatively, vitamin B group treatment in pregnant A/WySn mice did not substantially influence the clefting rate in contrast to our former experience in Halle:AB mice. The results may help to elucidate the interplay of genetic conditions and exogenous (nutritional) factors in both the aetiology and prevention of CLP. This may further clarify the role of the B vitamins in empiric preventive clinical trials.     

腭裂术后复裂的原因分析及临床体会

目的：分析腭裂术后复裂的原因,探讨预防复裂的方法。方法：通过105例腭裂术后复裂的临床资料进行回顾性分析,找出导致复裂的原因。结果：腭裂术后复裂的原因是多方面的,有病人自身因素,有手术医师的技术操作,还有术前、术后的护理等因素。充分认识这些因素并加以预防,腭裂术后复裂是可以避免或减少的。结论：腭裂术后复裂的因素是多方面的,只要加以重视,复裂是可以避免或减少的。     

Orthodontic treatment of children with cleft lip and cleft palate

Orthodontic treatment of children with cleft palates continues through the periods of the three dentitions: temporary, mixed, and adult. Using examples, this paper deals with the different difficulties that can be encountered during treatment of this malformation. Orthodontic interception at the time of the temporary dentition corrects the heart of the problem, the transverse insufficiency, but also addresses moderate maxillary retrusion. Cooperation with a speech therapist at this stage is essential. In the mixed dentition, orthodontists correct incisal malalignment and, depending upon the severity of the deformity, consider surgical intervention. In the adult dentition, a variety of decisions must be made: whether to open or close the spaces left by absent lateral incisors; whether to accept an orthodontic compromise or to elect surgical advancement of the maxilla; and, if surgery is deemed appropriate, whether to embark on an early distraction procedure or to rely on a classical osteotomy.