味觉出汗综合征的治疗与预防

味觉出汗综合征(Frey综合征)是腮腺手术后常见的并发症,发病机制尚不清楚。目前对该综合征的治疗与预防方法很多,该文就Frey综合征的治疗和预防进展作一综述。     

综合征与非综合征型腭裂患者颅颌面结构特征的对比研究

目的比较和认识综合征型与非综合征型腭裂患者颅颌面结构的差异和特点,揭示综合征型腭裂患者上下颌骨生长发育的规律以及腭裂与颌面部其他畸形之间的关系。方法采集符合特定条件的混合牙列期男性腭裂患者57例,其中Treacher Collins综合征8例,Pierre Robin综合征9例、非综合征型腭裂患者40例。所有患者行侧位头影测量检查,对侧位片进行定点分析并且选择18项指标进行测量,使用SPSS 12.0软件对其结果进行统计学分析。结果与非综合征型腭裂患者相比,综合征型腭裂患者下颌骨生长发育的差异主要表现为SNB的减小和ANB的增大（P<0.05）,提示综合征型腭裂患者下颌骨在前后方向上的发育较非综合征型腭裂患者相对不足;而两组患者的上颌骨前后向发育无统计学差异（P>0.05）,颅底的生长发育亦无统计学差异（P>0.05）。结论综合征型腭裂患者的上颌骨形态结构以及生长发育与非综合征型腭裂患者基本类似,两者之间存在着相似的生长发育潜力;腭裂患者颅颌面诸骨的生长发育既相互影响又相对独立。     

细胞色素C在原发性干燥综合征患者唇腺组织中表达的研究

目的检测原发性干燥综合征患者唇腺组织中细胞色素C(CytC)的表达水平,探讨CytC在原发性干燥综合征发病中的作用。方法分别采用免疫组化和逆转录-聚合酶链式方法对40例原发性干燥综合征患者和22例非干燥综合征患者的唇腺组织中CytC蛋白和mRNA进行检测,比较分析其在2组之间的差异。使用SPSS14.0软件对数据进行t检验。结果原发性干燥综合征患者组织中CytC蛋白和mRNA的表达高于非干燥综合征患者,2组之间具有显著性差异。结论 CytC在原发性干燥综合征患者唇腺组织中存在表达异常。     

干燥综合征临床诊断和中医辨证的探讨

目的为了寻求更适宜的干燥综合征诊断标准。方法采用１９９３年提出的欧洲标准诊断干燥综合征,并在此基础上运用中医理论进行从病辨证,探讨两者的一致性。结果欧洲标准诊断干燥综合征较以往采用的标准更具全面性和客观性,更能反映干燥综合征的发病特点,中医辨证认为干燥综合征发病以脾气虚和肝肾阴虚为主,与以往的辨证结果基本一致。结论为临床更好地诊断和中医治疗干燥综合征提供了一定的依据     

Smac在干燥综合征患者唇腺组织中的表达

目的:检测干燥综合征患者唇腺组织中Smac的表达水平,探讨Smac在干燥综合征发病中的作用。方法:分别采用免疫组化和Western-blot方法对40例干燥综合征患者和22例非干燥综合征患者的唇腺组织中Smac蛋白进行检测,比较分析其在2组之间的差异。使用SPSS 12.0软件对数据进行t检验。结果:干燥综合征患者唇腺组织中Smac蛋白的表达明显高于非干燥综合征患者,2组之间差异具有显著性(P<0.05)。结论:Smac在干燥综合征患者唇腺组织中表达明显增高,提示其可能参与了发病过程。     

4种与动静脉畸形相关的遗传性综合征

动静脉畸形（arteriovenous malformations, AVMs）为脉管畸形中最危险的一型,常为单发,也可作为某些遗传性综合征的表现之一,见于全身各个部位。本文对4种与动静脉畸形相关的遗传性综合征：遗传性出血性毛细血管扩张症、毛细血管畸形-动静脉畸形综合征、Parkes-Weber综合征及Cobb综合征的临床表现、发病机制、诊断标准和治疗方法作一综述。     

腭心面综合征的研究新进展

<正>腭心面综合征(velo-cardio-facial syndrome,VCFS)是人类常见的多发畸形综合征,发病率占活产新生儿的1/2 000～1/4 000,其表型复杂多样。DiGeorge综合征、Shprintzen综合征、圆锥动脉干异常面容(conotruncal anomalies face syndrome,CAFS)综合征和CATCH 22都是同一综合征。VCFS也是人类最常见的基因(组)疾病之一,其主要发病机制是由于减数分裂期间染色体22q11.2区域发生了重组,导致了该区域内片段的微缺失,使得神经嵴衍生的咽弓咽囊组织的结构异常,因此VCFS也被称为22q11.2微缺失综合征。     

灼口综合征病因研究新进展

灼口综合征(burning mouth syndrome,BMS)以口腔黏膜疼痛、烧灼感或感觉异常为特征。其病因多样,尚缺乏统一观点。近年来,有关于灼口综合征的病因研究增多,许多学者对灼口综合征的病因提出了新的观点。该文诣在对灼口综合征的病因及其发病机制的最新研究进展进行综述,从而为灼口综合征的临床诊断及治疗手段的发展提供一定的帮助。     

47,XXX综合征的研究进展

XXX综合征属于性染色体非整倍体的主要形式之一。XXX综合征系患者体细胞核中有一额外的X染色体（染色体核型：47,XXX）。由于大部分患者缺乏明显的表现型特征,造成本综合征有相当大的鉴别难度。本文对XXX综合征的病因,可能的表现型特征及相关的遗传咨询手段作一综述。     

腮腺肿瘤术后味觉出汗综合征防治的研究进展

味觉出汗综合征,又称Frey’s综合征,是腮腺肿瘤切除术后最常见的并发症之一。近几年来国内外学者对于Frey’s综合征的防治进行了一系列研究,本文就此做一综述。     

A longitudinal study of dental arch morphology in children with the syndrome of Crouzon or Apert

The aim of this study was to compare changes in dental arch morphology between patients with Crouzon syndrome or Apert syndrome and controls. Children between 4 and 14 yr of age with Crouzon syndrome (n = 40) or Apert syndrome (n = 28) were compared with non‐syndromic controls (n = 457) in terms of arch widths, depths, and length dimensions. Multilevel statistical modeling techniques were used to evaluate changes over time. Dental arch dimensions were found to be smaller in patients with Crouzon syndrome or Apert syndrome compared with control subjects. Maxillary intercanine width for patients with Apert syndrome were increased, whilst other arch width variables showed no change. Patients with Crouzon syndrome showed increases in maxillary intercanine width, whilst intermolar width showed no change over time. Dental arch dimensions in syndromic patients were thus found to be consistently smaller than in control subjects between 4 and 14 yr of age, implying that patients with Crouzon syndrome and Apert syndrome had a diminished growth potential.     

Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis

Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.     

Salivary parameters in infants aged 12 to 60 months with Down syndrome

The purpose of this study was to measure certain components in whole saliva from children with Down syndrome aged 12 months to 60 months. Twenty children with Down syndrome were compared with 18 children without Down syndrome. Whole saliva was collected under slight suction and the salivary pH was measured with a portable pH meter soon after collection. Electrolyte concentrations were determined by inductively coupled argon plasma with atomic emission spectrometry. Sialic acid was determined by thiobarbituric acid assay. Amylase was assayed measuring the maltose produced by the breakdown of starch and peroxidase with ortho-dianisidine.
No statistically significant differences were observed in sialic acid, calcium, phosphorus and magnesium concentrations between the group with Down syndrome and the control group. Protein and sodium concentration were higher in the group with Down syndrome compared to the control group. On the other hand, the flow rate, pH, amylase and peroxidase activities and potassium concentration were lower in those with Down syndrome compared to those children in the control group.     

异常体液分型的口腔扁平苔藓病损组织中RANTES含量的变化

目的观察异常体液型OLP病损组织中T细胞表达和分泌的活性调节蛋白(RANTES)含量的变化,探讨RANTES在OLP维吾尔医学异常体液分型中的临床意义。方法对本院门诊就诊的76例OLP患者进行异常体液分型分组,采用免疫组化SP法检测OLP组织中RANTES的表达水平。结果 OLP患者中异常血液质51例(67.11%)、异常胆液质6例(7.89%)、异常黏液质15例(19.74%)、异常黑胆质4例(5.26%);RANTES在不同体液质型的表达为异常血液质52.63%、异常胆液质7.89%、异常黏液质14.47%,异常黑胆质中不表达。结论异常血液质与OLP的发生发展可能存在一定关系,RANTES可能可以作为异常血液质OLP的靶向指标。     

Oral manifestations of patients with Turner syndrome

OBJECTIVE: The purpose of this study was to conduct a complete analysis of orofacial abnormalities of patients with Turner syndrome. Study Design: Twenty nine patients with Turner syndrome and 30 without Turner syndrome (control group) were studied. The subjects were screened for cariological and periodontal alterations, orthodontic anomalies, tooth crown morphologic condition, alveolar arch dimensions, and temporomandibular joint function. RESULTS: Significantly lower mean values for decayed, missing, and filled teeth were found for patients with Turner syndrome as compared with the control group. Plaque and gingival indices were significantly higher in the study group. Orthodontic anomalies were more frequent and severe in patients with Turner syndrome. Our investigation showed reduced tooth crown size in the study group. The alveolar arch of the maxilla was narrower and of normal length, but the mandibular arch was shorter and broader. There was no significant alteration in temporomandibular joint function in the 2 examined groups. CONCLUSIONS: Our examination showed the importance of early diagnosis of oral anomalies and timely treatment of dental problems for patients with Turner syndrome.     

Arbitrarily primed polymerase chain reaction for fingerprinting the genotype identification of mutans streptococci in children with Down syndrome

This study investigated the possible intrafamilial similarity of mutans streptococcal strains in some families with a child with Down syndrome using chromosomal DNA fingerprinting. The isolates were genotyped using arbitrarily primed polymerase chain reaction with the OPA 02 and OPA 03 primers. The results showed that five children with Down syndrome harbored mutans streptococci genotypes different from those of their mothers. A matching of genotypes was observed within the control pair (mother/child without Down syndrome). After six months, new samples were collected from all participants. Analysis showed that samples from children with Down syndrome were colonized by a new strain of Streptococcus mutans that did not match the previously collected one. The results suggest the S. mutans indigenous bacteria change more than once in children with Down syndrome.     

Craniofacial growth in Sotos syndrome

Sotos syndrome is a congenital genetic disorder characterized by overgrowth starting before birth, specific facial manifestations, advanced bone age, and developmental impairment. The characteristics of craniofacial development in Sotos syndrome have yet to be clarified. Eight patients with Sotos syndrome were studied and two types of mutations and a submicroscopic deletion within the NSD1 gene were verified using genetic analysis. Regarding craniofacial growth, the length between the nasion and the sella was longer than the norm as shown by multi-detector row computed tomography cephalometric analysis. The areas of the cranium and maxilla of patients with Sotos syndrome were larger than those of the control group, as measured on cephalometric images. The area of the sella turcica in patients with Sotos syndrome was also larger than that in the controls without significant difference and the morphology of the sella turcica was similar to that of the control. The morphology of the chin in patients with Sotos syndrome showed more protrusion than that in the controls. Early formation of teeth was found in the upper and lower first molars of patients with Sotos syndrome. Eight patients with Sotos syndrome, 6–13 years of age, had craniofacial characteristics of cranium and maxilla overgrowth, but no significant difference was observed in the mandible size between patients with Sotos syndrome and control subjects. No sella turcica bridging or early root formation of the first molars was seen in patients with Sotos syndrome.     

Diagnosis of multiple synchronously occurring cystic jaw lesions in 23 patients: prognostic implications related to basal cell nevus syndrome

Objectives We rarely find multiple cystic lesions in the jaw in panoramic radiographs. Most reports of multiple cystic lesions have described keratocystic odontogenic tumors (KOTs) in patients with basal cell nevus syndrome. In this study, we performed radiographic and clinical examinations of patients with multiple cystic jaw lesions found during their first visit to our department to determine the proportion of basal cell nevus syndrome among multiple cystic lesions. Methods Patients who had a panoramic radiograph taken at Okayama University Hospital between 1993 and 2000 were examined. Twenty-three patients with multiple cystic jaw lesions on a first panoramic radiography examination were entered into this study. Results Of the 23 patients, 12 (52.2%) were diagnosed with basal cell nevus syndrome and 11 (47.8%) were not. Of the 14 patients with multiple KOTs, 12 (85.7%) were diagnosed as having basal cell nevus syndrome. Of the nine remaining patients with multiple cystic jaw lesions, only seven had multiple dentigerous cysts and two had multiple simple bone cysts. Cleft palate was observed in four of the 12 patients (33.3%) with basal cell nevus syndrome. Conclusion Diagnosing basal cell nevus syndrome based on multiple cystic jaw lesions carries a high risk of misdiagnosis. A strong possibility exists that patients with multiple jaw KOTs have basal cell nevus syndrome. Furthermore, cleft palate should be considered an important oral finding in basal cell nevus syndrome because its occurrence was relatively frequent in our study.     

Primary chronic osteomyelitis associated with synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO syndrome)

Diffuse sclerosing osteomyelitis may indicate the mandibular localisation of the SAPHO syndrome. Twelve patients with diffuse sclerosis of the mandible were examined for symptoms of the SAPHO syndrome. Nine patients were found to have primary chronic osteomyelitis and eight of these represented a SAPHO syndrome. Results in this series support the hypothesis of an association between primary chronic osteomyelitis and the SAPHO syndrome.     

Subgingival microbiota in adult Down syndrome periodontitis

Khocht A, Yaskell T, Janal M, Turner BF, Rams TE, Haffajee AD, Socransky SS. Subgingival microbiota in adult Down syndrome periodontitis. J Periodont Res 2012; 47: 500–507. © 2012 John Wiley & Sons A/S Background and Objective: The subgingival microbiota in Down syndrome and non‐Down syndrome adults receiving periodic dental care was examined for 40 bacterial species using checkerboard DNA–DNA hybridization and the results were related to clinical periodontal attachment loss. Material and Methods: A total of 44 Down syndrome, 66 non‐Down syndrome mentally retarded and 83 mentally normal adults were clinically evaluated. This involved, for each subject, the removal of subgingival specimens from three interproximal sites on different teeth; all subgingival samples per subject were then pooled and assessed for the presence and levels of 40 bacterial species using species‐specific whole‐genomic DNA probes and checkerboard DNA–DNA hybridization. Significant group differences in species proportions averaged across subjects were evaluated using the Kruskal–Wallis test, and associations between subgingival species and mean subject attachment loss within Down syndrome and non‐Down syndrome subject groups were quantified using Pearson correlation and multiple linear regression analysis. Results: Down syndrome subjects exhibited greater attachment loss than non‐Down syndrome subjects (p = 0.05). Most microbial species were present in Down syndrome subjects at levels similar to non‐Down syndrome subjects, except for higher proportions of Selenomonas noxia, Propionibacterium acnes, Streptococcus gordonii, Streptococcus mitis and Streptococcus oralis in Down syndrome subjects compared with non‐Down syndrome study subjects, higher proportions of Treponema socranskii in Down syndrome subjects compared with non‐Down syndrome mentally retarded subjects, and higher proportions of Streptococcus constellatus in Down syndrome subjects compared with mentally normal subjects. Down syndrome adults classified with periodontitis revealed higher subgingival levels of T. socranskii than Down syndrome subjects with no periodontitis (p = 0.02). Higher subgingival proportions of S. constellatus, Fusobacterium nucleatum ssp. nucleatum, S. noxia and Prevotella nigrescens showed significant positive correlations (r = 0.35–0.42) and higher proportions of Actinomyces naeslundii II and Actinomyces odontolyticus showed negative correlations (r = ?0.36 to ?0.40), with increasing mean subject attachment loss in Down syndrome adults. Conclusion: Individuals with Down syndrome show higher levels of some subgingival bacterial species and specific associations between certain subgingival bacterial species and loss of periodontal attachment. These findings are consistent with the notion that certain subgingival bacteria may contribute to the increased level of periodontal disease seen in Down syndrome individuals and raise the question as to the reason for increased colonization in Down syndrome.