SH3PXD2b基因突变与颅颌面畸形和中耳炎

先天性颅颌面畸形作为口腔颌面外科的常见病,多由基因突变引起。先天性颅颌面畸形在影响患者颅颌面形态和功能的同时,多伴随有咽鼓管功能障碍和中耳炎的发生,引起听觉障碍。SH3PXD2b作为新发现的伪足受体蛋白基因,对细胞表面伪足形成、细胞外基质改建与重塑、颅颌面器官的发生有重要的意义。本文就SH3PXD2b基因、SH3PXD2b基因突变、颅颌面畸形与咽鼓管功能障碍和中耳炎等研究进展作一综述。     

36例口腔颌面-头颈部朗格汉斯细胞组织细胞增多症临床及预后分析

目的:探讨口腔颌面-头颈部朗格汉斯细胞组织细胞增多症(Langerhans cell histiocytosis,LCH)的临床特征、诊断、治疗方法及预后,为临床治疗提供更强的循证医学证据.方法:回顾分析上海交通大学医学院附属第九人民医院口腔颌面-头颈肿瘤科收治的36例成人及儿童口腔颌面-头颈部朗格汉斯细胞组织细胞增多...     

miR-429对头颈部鳞状细胞癌增殖的影响

目的:研究micro RNA-429(mi R-429)对人头颈部鳞癌细胞增殖的影响。方法:通过q RT-PCR分析19例头颈部鳞状细胞癌患者肿瘤组织与癌旁正常组织标本中mi R-429的表达。通过mi R-429 mimics或mi R-429 ASO上调或抑制人喉癌细胞株(Hep-2)和人舌鳞状细胞癌株(SCC-9)细胞中mi R-429的水平。用MTT实验分析上调或抑制mi R-429的表达水平对Hep-2和SCC-9细胞增殖的影响,并利用生物信息学方法预测mi R-429的靶基因。结果 :q RT-PCR结果表明头颈部鳞状细胞癌组织中mi R-429表达水平较低;上调mi R-429表达能抑制Hep-2和SCC-9细胞的增殖,而抑制mi R-429表达能促进Hep-2和SCC-9细胞的增殖。生物信息学方法预测mi R-429的靶基因为ZEB1基因。结论:mi R-429可能通过ZEB1基因抑制头颈部鳞状细胞癌的增殖。     

巨颌症致病基因SH3BP2的功能学研究进展

SH3BP2基因是巨颌症的致病基因，其碱基突变能引发巨颌症。研究突变前后的SH3BP2蛋白功能变化有助于进一步了解其致病机制。本文将就SH3BP2蛋白功能及突变后该蛋白功能变化做一综述。     

口腔颌面创伤基础和临床研究三年进展

自全国第二次口腔颌面创伤专题研讨会暨全国口腔颌面创伤学组成立 3年来 ,口腔颌面创伤基础和临床研究均取得了显著的进步 ,我们根据近 3年在国内发表的相关论文作简要分析。1.从中国期刊网全文库 (www .cnki.net) 177种各类专业期刊共检索近 3年关于口腔颌面部创伤论文 4 6 7篇 ,占 1987～ 1999年发表此类文章总数的2 /3,其中相关基础研究论文的数量约占 2 8% ,增加了 2倍 ,标志着我国口腔颌面创伤研究正在走向成熟 (表 1)。表 1　2 0 0 0～ 2 0 0 3年口腔颌面创伤论文发表情况统计文章类型篇数文章类型篇数创伤基础研究面神经基础研究三维…     

巨颌症致病基因SH3BP2及其对病变中破骨细胞的作用

巨颌症是一种少见的常染色体显性遗传病,现已明确其致病基因为SH3BP2。此基因突变导致SH3BP2蛋白功能的改变,从而引起病变中破骨细胞的病理性高活性表达,最终导致巨颌症骨质破坏的病理性改变。下面就SH3BP2基因的功能和SH3BP2基因对巨颌症疾病发生的调控作用以及与破骨细胞的联系作一综述。     

口腔颌面-头颈肿瘤外科--我国口腔颌面肿瘤学科建设的历史和发展方向

口腔颌面部肿瘤是头颈肿瘤的重要组成部分,从肿瘤的发生部位、种类和治疗等方面来说,口腔颌面部肿瘤涵盖了头颈肿瘤的大部分内容。由于头颈部解剖结构和功能的复杂性,外科手术对患者的外貌具有重大影响,因此该部位肿瘤的治疗具有鲜明的特色。目前口颌系统和涎腺肿瘤及其相关颈部病变的治疗和功能的修复与重建已成为口腔颌面外科的重要内容,口腔颌面外科在头颈部肿瘤的治疗中具有不可替代的作用。     

口腔颌面鳞状细胞癌相关基因的筛选与定量验证

目的 筛选和验证与口腔颌面鳞状细胞癌密切相关的基因，为口腔鳞癌寡核苷酸功能芯片的制作提供可靠的靶标基因。方法 选用近5年口腔鳞癌基因表达谱芯片检测方面的文献资料，按标准筛选可能与口腔鳞癌相关的基因，用22对临床配对肿瘤与正常黏膜组织，采用实时定量PCR技术验证候选基因的表达情况，结合 内参照3-磷酸甘油醛脱氢酶（GAPDH）管家基因进行相对定量分析。结果 在课题组前期筛选到38个口腔鳞癌密切相关基因的基础上，又筛选出8个相关基因，其中富含半胱氨酸酸性分泌蛋白（SPARC）、血小板源生长因子A（PDGF—A）、丝氨酸蛋白酶抑制剂E（SERPIN口）、转化生长因子Cβ1（TGF—β1）、血管内皮生长因子C（VEGF—C）基因分别在16个以上肿瘤组织标本中过表达，细胞角蛋白15（CK15）基因在19个肿瘤标本中低表达，且肿瘤与正常黏膜组织存在差异，具有统计学意义（P〈0．01）。细胞周期D1蛋白基因（CCND1）和细胞凋亡相关的抑制蛋白（BIRC3）基因在肿瘤组织中过表达，但与正常组织差异无统计学意义（P〉0．05）。结论 SPARC、PDGF—A、SERPIN口、TGF-β、、VEGF—C、CK15是与口腔鳞癌密切相关的基因，可作为口腔颌面鳞癌寡核苷酸功能芯片制作的靶标基因。     

0～6岁儿童口腔颌面创伤急诊分析——附552例报告

目的:探讨低幼龄儿童口腔颌面创伤的处理与防治途径.方法:收集552例0～6岁儿童口腔颌面部创伤急诊临床资料并进行归纳分析.结果:0～6岁组儿童口腔颌面创伤占急诊人数17.3%,男女之比1.5∶1,其中～2岁组,～3岁组比例较高,各类损伤中的软组织挫裂伤最常见,其中唇齿联合外伤占绝大多数,致伤原因分析以跌伤为主.结论:低幼龄儿童颌面损伤多发于～2、～3岁组龄. 唇齿联合外伤为儿童颌面创伤主要类型. 清创与整形并重是儿童创伤处理的基本原则.预防儿童颌面外伤比治疗更重要.     

血清MIR4435-2HG在口腔鳞状细胞癌中的预后价值分析

目的探讨血清MIR4435-2HG水平在口腔鳞状细胞癌诊断和预后中的价值。方法本研究为回顾性病例对照研究。纳入癌症和肿瘤基因图谱(the cancer genome atlas project,TCGA)数据库中头颈部鳞状细胞癌的口腔鳞状细胞癌患者518个样本,以长链非编码RNA MIR4435-2HG表达量中位数为界,将患者分为高表达组和低表达组,比较两组患者的5年无病生存率和总生存率。收集2012年1月至2015年1月就诊于湖州师范学院附属口腔医院口腔颌面外科的82例口腔鳞状细胞癌患者的血清标本进行验证,探索MIR4435-2HG的预后价值。通过生物信息学手段预测MIR4435-2HG参与的生物学过程。运用SPSS 23.0设定MIR4435-2HG的最佳诊断和预后截点。结果分析TCGA数据库中518个口腔鳞状细胞癌患者样本显示,MIR4435-2HG高表达组患者的5年总生存率[43.2%(112/259)]显著低于MIR4435-2HG低表达组[51.7%(134/259)](P<0.05);MIR4435-2HG高表达组的5年无病生存率[56.8%(147/259)]显著低于MIR4435-2HG低表达组[64.1%(166/259)](P<0.05)。82例口腔鳞状细胞癌患者样本验证结果显示,MIR4435-2HG高表达组的3年总生存率[40.0%(8/20)]显著低于MIR4435-2HG低表达组[80.6%(50/62)](P<0.05)。对血清MIR4435-2HG高表达组和血清MIR4435-2HG低表达组患者的临床病理资料进行比较,结果显示两组患者的性别、年龄、肿瘤发生部位、TNM分期差异均无统计学意义(P>0.05)。MIR4435-2HG高表达组的淋巴结转移率[45.0%(9/20)]显著高于低表达组[12.9%(8/62)](P<0.05),且高表达组的组织学分级[80.0%(16/20)]显著高于低表达组[24.2%(15/62)](χ2=20.030,P<0.05)。生物信息学分析结果显示,MIR4435-2HG靶基因的生物功能主要富集于蛋白质代谢、核仁和胞质中rRNA的加工、SEMA4D诱导细胞迁移过程、线粒体翻译启动及伸长过程等。结论血清MIR4435-2HG可作为口腔鳞状细胞癌的潜在预后标志物。     

Fine deletion analysis of 1p36 chromosomal region in oral squamous cell carcinomas

Background:  Squamous cell carcinoma is the most common cancer type of the oral cavity and approximately 50% of the patients succumb to the disease. Unfortunately, few are known about the molecular mechanisms involving in the formation of oral squamous cell carcinoma (OSCC). Recently, it has been reported that 1p36 chromosomal region is deleted in various cancer types and is suspected to harbor various tumor suppressor genes (TSGs). However, limited studies exist on genetics alteration on 1p36 in OSCC and the responsible TSG remained unidentified.
Methods:  To investigate area susceptible to harbor TSG(s) involved in OSCC on 1p36 region, paired normal and tumor tissues of 27 patients with diagnosis of OSCC have been analyzed for loss of heterozygosity (LOH) using nine microsatellite markers based on recent gene mapping.
Results:  LOH was found at least in one locus in 85% of the cases (23 of 27). Interestingly, microsatellite instability was also found in 7% (two of 27) of the cases analyzed. The higher LOH frequencies were found with the markers D1S243 (25%), D1S468 (22%), D1S450 (25%), D1S228 (38%), D1S199 (28%), and D1S1676 (23%).
Conclusions:  Three preferentially deleted regions have been identified in OSCC: region 1 (D1S468-D1S243), region 2 (D1S450-D1S228), and region 3 (D1S199-D1S1676). Multiple candidate TSGs, such as RIZ1, p73, UBE4B, Rap1GAP, EPHB2, and RUNX3, are located in these three areas. The data obtained in this study can be used for further functional analysis of these genes involved in OSCC carcinogenesis.     

Structural aspects of salivary glycoproteins

The protective functions of saliva are attributed, in part, to its serous and mucous glycoproteins. We have studied, as representative molecules, the proline-rich glycoprotein (PRG) from human parotid saliva and the high (MG1) and low (MG2) molecular weight mucins from submandibular-sublingual saliva. PRG (38.9 kDa) contains 40% carbohydrate consisting of 6 triantennary N-linked units and a single peptide chain of 231 amino acids, 75% of which = PRO + GLY + GLN. PRG's secondary structure is comprised of 70% random coil (naked regions) and 30% beta-turns (glycosylated domains). MG1 (greater than 10(3) kDa) contains 15% protein (several disulfide linked subunits), 78% carbohydrate (290 units of 4-16 residues), 7% sulfate, and small amounts of covalently linked fatty acids. MG2 (200-250 kDa) contains 30% protein (single peptide chain), 68% carbohydrate (170 units of 2-7 residues), and 2% sulfate. The major carbohydrate units of MG2 are: NeuAc alpha 2,3Gal beta 1,3GalNAc,Gal beta 1,3GalNAc, and Fuc alpha 1,2Gal beta 1,3GalNAc. MG1 contains hydrophobic domains, as evidenced by its ability to bind fluorescent hydrophobic probes; MG2 does not. Collectively, the biochemical and biophysical comparisons between MG1 and MG2 indicate that these two mucins are structurally different. Several functional properties of MG1, MG2, and PRG have been examined, including their presence in two-hour in vivo enamel pellicle, binding to synthetic hydroxyapatite, lubricating properties, and interactions with oral streptococci. The data presented suggest that these glycoproteins may have multiple functions which are predicated, in part on their carbohydrate units. The potential significance of the structure-function relationships of these glycoproteins to the oral ecology is discussed.     

The assessment of methyl mercaptan, an important clinical marker for the diagnosis of oral malodor

OBJECTIVE: This study aimed to determine the clinical assessment of volatile sulfur compound (VSCs) for the evaluation of noticeable oral malodor using gas chromatography (GC). METHODS: The oral malodor of 127 adult patients was investigated using the organoleptic test and GC, and the relation between the organoleptic evaluation and VSCs were analyzed. RESULTS: The optimum cut-off values of CH3SH, H2S and total VSC (CH3SH + H2S) to discriminate between the patients with and without noticeable oral malodor were obtained from ROC curves, and determined to be 0.44, 1.10 and 2.20 ng/10 ml, respectively. The logistic regression was analyzed for estimation of the association between an organoleptic evaluation greater than a slight level and the groups with CH3SH, H2S or total VSC with concentrations above the optimum cut-off value. Only CH3SH showed an independent association with noticeable oral malodor. CONCLUSIONS: It was evident that CH3SH was a more useful marker for the evaluation of oral malodor than H2S. Moreover, it appears CH3SH is the predominant causative factor of noticeable oral malodor.     

口腔鳞癌Stat3基因的表达研究和SH2功能区编码序列测定

目的：探讨Stat3基因在口腔鳞癌发生发展中的作用。方法：RT-PCR检测20例鳞癌的癌组织及相应正常口腔黏膜新鲜组织中Stat3 mRNA的相对含量。DNA序列测定方法分析7例鳞癌组织中Stat3 SH2功能区的编码序列。结果：Stat3 mRNA在口腔鳞癌中的表达显著高于其相应正常组织（P〈0.05）。鳞癌测序结果5例未发现碱基突变;2例与Genbank的标准序列分别存在2个和5个位点的变异。结论：Stat3在口腔鳞癌形成早期,部分行使信号传导和转录激活功能;检测Stat3 mRNA表达可能有助于口腔鳞癌淋巴结转移和肿瘤临床分期的预测。口腔鳞癌发生发展中SH2功能区编码序列的突变可能起了一定的作用。     

Induction and inhibition of oral malodor

Volatile sulfur compounds (VSCs) such as hydrogen sulfide (H₂S) and methyl mercaptan (CH₃SH) are the main components of oral malodor, and are produced as the end products of the proteolytic processes of oral microorganisms. The main pathway of proteolysis is the metabolism of sulfur‐containing amino acids by gram‐negative anaerobic bacteria. Gram‐positive bacteria may promote VSC production by gram‐negative anaerobes by cleaving sugar chains from glycoproteins and thus providing proteins. A large variety of bacteria within the oral microbiota are thought to be involved in the complex phenomenon of halitosis. Oral microbiota associated with a lack of oral malodor, oral microbiota associated with severe and H₂S‐dominant oral malodor, and oral microbiota associated with severe and CH₃SH‐dominant oral malodor have been distinguished through molecular approaches using the 16S rRNA gene. Pathological halitosis may primarily be addressed through treatment of causative diseases. In all cases, plaque control is the basis of oral malodor control, and dentifrices, mouthwashes, and functional foods play a supplementary role in addition to brushing. Recently, the use of natural ingredients in products tends to be favored due to the increase in antibiotic‐resistant strains and the side effects of some chemical ingredients. In addition, probiotics and vaccines are expected to offer new strategies for improving the oral conditions through mechanisms other than antibacterial agents.     

A functional interleukin-1 beta gene polymorphism is associated with chronic periodontitis in a sample of Brazilian individuals

BACKGROUND: Interleukin-1 beta (IL-1 beta) is a potent inflammatory mediator and an important polymorphism in the locus +3954 (C/T) of the human IL1 B gene has been shown to affect the levels of this cytokine. This functional polymorphism has been associated with the establishment of inflammatory diseases, including periodontal disease, in European, Asian and North American populations. OBJECTIVE: The aim of this study was to investigate the association between the IL1 B (+3954) gene polymorphism and the occurrence of different clinical forms of periodontitis in a sample of Brazilian individuals. METHODS: This study employed a cross-sectional design involving individuals from the State of Minas Gerais in the south-eastern region of Brazil. Genomic DNA was obtained from oral swabs of 129 individuals and amplified using the polymerase chain reaction (PCR) with specific primers flanking the locus +3954 of IL1 B. PCR products were submitted to restriction endonuclease digestion and analyzed by polyacrylamide gel electrophoresis, to distinguish alleles T and C of the IL1 B gene, allowing for the determination of the genotypes and detection of the polymorphism. RESULTS AND CONCLUSIONS: The chronic periodontitis group displayed a higher percentage of the T allele (28%) when compared to the aggressive periodontitis group (10.7%, chi(2)=5.24, p=0.02, OR=0.31, CI=0.11--0.88) and to control group (8.7%, chi(2)=7.11, p=0.007, OR=0.24, CI=0.08--0.73). Our data suggested that the polymorphism in the locus +3954 of IL1 B gene could be a risk factor for chronic periodontitis in a sample of Brazilian individuals.     

Modulation of human gingival fibroblast cell metabolism by methyl mercaptan

Methyl mercaptan (CH3SH) is a malodorous compound whose levels are elevated in mouth and crevicular air of individuals with active periodontal disease. Since it may play a role in the disease process, its effects were evaluated using human gingival fibroblast cultures and viable porcine unkeratinized oral mucosal tissue sections. Results showed that the protein content of CH3SH-exposed cell cultures pulsed with [14C]-labelled glycine and proline was decreased by approximately 25%. Furthermore, this deleterious effect was irreversible in test cultures subsequently incubated for 24 h in a control 95% air/5% CO2 mercaptan-free environment. The supporting slab-gel electrophoresis profiles yielded evidence that exposure to CH3SH caused an alteration in collagen metabolism and a pooling of Type I procollagens. In addition, DNA synthesis was suppressed in CH3SH-exposed cultures by 44.1% at the 24 to 26 h peak of DNA synthesis. This is a true inhibition and not a shift in peak of maximum DNA synthesis as the shape and location of time-course curves of control and test systems is very similar. Proline transport study using [14C]-proline indicated a reduction in proline transport in the range of 40 to 50% in cultures exposed for 24 to 30 h to CH3SH. Significantly even 15 min exposure to 6.7 ng CH3SH/ml of incubating atmosphere suppressed proline transport by approximately 24%. This indicates that even brief exposure to low concentrations of CH3SH has a significant adverse effect on proline transport. Fluorescent staining of tissue sections exposed to mercaptan indicated that the agent elevated the number of cells stained with vital dye.(ABSTRACT TRUNCATED AT 250 WORDS)     

Spontaneous fluctuations in the concentrations of oral sulfur-containing gases.

Breath hydrogen sulfide (H2S) and methyl-mercaptan (CH3SH) concentrations are used as quantitative indicators of halitosis. However, measurements of these gases in duplicate oral samplings often show poor reproducibility. To determine if this poor reproducibility is an artifact of the collection/analytical procedure or a true biological phenomenon, we used a standardized technique to collect from 20 to 30 oral gas samples at two-minute intervals from 11 healthy subjects. The samples were analyzed for sulfur gases and CO2. Sizable variations in H2S and CH3SH concentrations were not associated with alterations in CO2, indicating that the variations did not reflect variable contamination with atmospheric or pulmonary gas. In addition, fluctuations in H2S and CH3SH were not identical and often were not random. We conclude that minute-to-minute variability in oral sulfur gas concentrations is a true biological phenomenon. This fluctuation complicates experimental studies designed to show that interventions alter halitosis.     

一个巨颌症家系SH3BP2基因的突变检测

目的了解国内巨颌症致病基因的突变情况.方法对一个家系的10位成员进行外周血基因组DNA的提取;用聚合酶链反应结合DNA直接测序的方法进行SH3BP2突变检测.结果该家系中的6位直系成员均存在SH3BP2基因第9外显子的单碱基错义突变,为G1505C,导致编码第415位氨基酸的密码子由CGA替换为CCA,其编码的氨基酸由精氨酸（Arg）变为脯氨酸（Pro）.结论SH3BP2基因的单碱基突变是引起这个巨颌症家系的致病突变.该突变与国外一学者发现的突变完全相同.