基因芯片筛选尿道下裂雌激素敏感基因的研究

目的 寻找与尿道下裂发病密切相关的基因,探讨尿道下裂形成机制.方法 ①实验组为12例尿道下裂患儿,年龄6～12个月,平均8个月.尿道下裂中度5例,重度7例.组织标本取自尿道成形手术时切取的尿道板组织.②对照组为6例年龄匹配的男性患儿,留取包皮环切时的正常表皮组织.用Tri-Reagent分别提取总RNA,与含22 000个人类基因的寡核苷酸基因芯片杂交、洗脱、染色、扫描,基因强度变化行方差分析(ANOVA,P＜0.01)和Tukey分析,基因表达强度变化＞2倍作为有意义的基因,比较尿道下裂和正常组织之间基因表达差异.从上调表达的基因中选择雌激素敏感基因行RT-PCR,标本除上述患儿RNA外,再增加年龄配对的3例中度、1例重度尿道下裂和2例年龄配对的RNA作为对照,即对照、中度和重度尿道下裂患者RNA标本各8例,验证芯片结果.结果 尿道下裂组织与正常组织之间存在明显的基因表达差异,共筛选出表达强度变化＞2倍的基因94个,其中中度尿道下裂与正常比较,47个基因上调表达(P＜0.01);重度尿道下裂与正常比较,68个基因上调表达(P＜0.001);重度与中度比较,17个基因上调表达(P＞0.05).上调表达的基因中发现了4个雌激素敏感基因CYR61、结缔组织生长因子、ATF3和GADD45β,基因芯片和RT-PCR均证实其在尿道下裂组织中的表达明显高于正常对照.结论 异常表达的基因与尿道下裂的发生有关,尿道下裂组织中雌激素敏感基因上调表达参与了尿道下裂的发病机制.     

喉鳞状细胞癌中PTEN蛋白表达与微血管密度的相关性

目的 研究喉鳞癌（LSCC）组织中抑癌基因PTEN蛋白（PTEN）的表达与肿瘤微血管密度（MVD）之间的相关性。方法 采用免疫组化SP法检测10例正常喉组织、20例癌旁组织和60例LSCC组织中PTEN基因和MVD的表达情况。结果 PTEN在LSCC、癌旁喉组织及正常组织中阳性表达率分别为70．00％、95．00％、100．00％,差异有显著性（P〈0．01）。LSCC组织中PTEN蛋白表达在TNM分期Ⅰ～Ⅱ期、高中分化癌、无转移、生存率〉3年的患者中表达水平较Ⅲ～Ⅳ期、低分化和有转移、生存率〈3年的患者高,差异有显著性（P〈0．05）。在不同恶性程度、分化程度、预后及有无转移的LSCC组织中,PTEN蛋白表达与MVD呈显著负相关（P〈0．05）。结论 PTEN基因突变和／或缺失可能在LSCC的发生、发展和血管形成中发挥重要作用。PTEN、MVD是反映LSCC生物学行为的重要指标。     

Prevalence of Candida spp., xerostomia,and hyposalivation in oral lichen planus – A controlled study

Objective

To determine the frequency of Candida spp., xerostomia, and salivary flow rate (SFR) in three different groups: patients with OLP (OLP group), patients with oral mucosal lesions other than OLP (non‐OLP group), and subjects without oral mucosal lesions (control group).

Material and methods

Xerostomia as well as SFR was investigated in the three groups. Samples for isolation of Candida spp. were collected from OLP lesions (38 patients), non‐OLP lesions (28 patients), and healthy subjects (32 subjects).

Results

There was no statistically significant difference regarding the frequency of xerostomia and hyposalivation among the three groups (P > 0.05). A higher prevalence for colonization by Candida spp. was found in the healthy subject as compared to that of patients with OLP (P = 0.03) and non‐OLP (P = 0.02) groups. Low SFR was not a factor for colonization by Candida spp.

Conclusions

Xerostomia and hyposalivation occur with similar frequency in subjects with and without oral lesions; also, the presence of oral lesions does not increase the susceptibility to colonization by Candida spp. It seems that any study implicating Candida spp. in the malignant transformation of oral lesions should be carried out mostly on a biochemical basis, that is, by testing the capability of Candida spp. to produce carcinogenic enzyme.     

Molar incisor hypomineralization: prevalence,severity and clinical consequences in Brazilian children

International Journal of Paediatric Dentistry 2010; 20: 426–434 Background. The prevalence of molar incisor hypomineralization (MIH) varies considerably around the world; however, few studies have examined MIH in South American countries. Objective. To evaluate the prevalence, severity, and clinical consequences of MIH in Brazilian children residing in rural and urban areas of the municipality of Botelhos, Minas Gerais, Brazil. Methods. Children aged 6 to 12 years (n = 918) with all four‐first permanent molars erupted had these teeth evaluated according to the European Academy of Paediatric Dentistry (EAPD) criteria. The examinations were conducted by two previously trained examiners, and the dental impact caused by MIH was evaluated with the Decayed, Missing and Filled Teeth (DMFT) index (WHO). Results. Molar incisor hypomineralization was present in 19.8% of the 918 children, with a higher prevalence in rural areas. The majority of the defects presented were demarcated opacities without post‐eruptive structural loss, which has been considered as mild defects. Children with MIH had higher DMFT values. Conclusion. Despite the high prevalence of MIH, the severity of the defects was mild. The results indicate a positive association between MIH and the presence of dental caries.     

高海拔地区急性呼吸窘迫综合征和多器官功能障碍综合征诊断标准的研究--附高海拔地区急性呼吸窘迫综合征诊断标准重修意见稿

目的：判别高海拔地区急性呼吸窘迫综合征（H－ARDS）和多脏器功能障碍综合征（H－MODS）诊断指标参数和平原的差异，重估原H－ARDS诊断标准（1999年兰州会议）的实用性和可操作性。方法：将资料齐全且符合庐山、Marshall ARDS/MODS诊断标准的360例患者，根据所在海拔高度分为平原对照组（CG，n=93),≥1517m高度组（H1G，n=223),2261-2400m高度组（H2G，n=44)。3组均按庐山、Marshall和自拟ARDS／MODS的标准（简称兰州标准）建成3个标准数据模型，绘制ROC曲线。根据曲线下面积、最佳截断点对比3个标准在不同海拔梯度上预测ARDS／MODS结局的准确性。结果：用庐山标准验证CG组ROC下面积、敏感度、特异度优于Marshall标准，两者相比ROC下面积、敏感度、特异度依次为0．823、0．833、0．731比0．815、0．767、0．763；但用于验证高海拔区如H2G则庐山标准明显低于兰州标准，两标准的ROC下面积、敏感度、特异度依次为0．855、0．583、0．969比0．914、1．000、0．657；氧合指数（PaO2/FiO2)的最佳界值在CG、H1G和H2G依次为198．32mmHg、131.50mmHg、97.58mmHg；3组ARDS／MODS按平原标准评分分级，CG比较均匀分布在1－3级，而H1G和H2G的病例多集中在3级，多构成比χ^2检验，P＜0．000。结论：（1）高海拔地区ARDS诊断标准与平原地区有明显差异，海拔高度≥1517m的兰州地区可能在区分平原与高原ARDS诊断标准是上一个有意义的分界线。已建立的H－ARDS诊断标准参数符合本地区实际，基本可行，参数范围仍宽，建议适度修改。MODS各项指标虽与平原有不同的变化趋向，但样本量较少，标准有待进一步完善。     

Strain‐dependent induction of allergic rhinitis without adjuvant in mice

BACKGROUND: To date, no murine models have been reported to show the induction of both antigen-specific IgE and nasal eosinophilia, two of the major hallmarks of allergic rhinitis, after local sensitization in the absence of adjuvants, a phenomenon which reflects natural exposure. In this report, we attempted to establish a murine model representing an initiation of allergic rhinitis. METHODS: BALB/c, CBA/J, and C57BL/6 mice were sensitized intranasally to Schistosoma mansoni egg antigen (SEA) solely. After repeated sensitization, serum Ab titers, nasal eosinophilia, and cytokine production by nasal lymphocytes were determined. RESULTS: BALB/c mice produced SEA-specific IgE after repeated sensitization. High-dose sensitization to SEA induced IgE production in CBA/J mice, while C57BL/6 mice did not show the production throughout the period observed, suggesting that IgE production was regulated genetically. BALB/c mice also exhibited nasal eosinophilia after the nasal challenge. In addition, nasal lymphocytes sensitized with SEA intranasally produced significant amount of IL-5 in vitro. CONCLUSIONS: These results suggest that intranasal sensitization with SEA in the absence of adjuvants induces a Th2 immune reaction, reflecting the hallmarks of the initiation of allergic rhinitis both in vivo and in vitro, which is genetically regulated.     

原发性肉碱缺乏致脂质沉积性肌病的临床与病理特点

目的 分析原发性肉碱缺乏致脂质沉积性肌病（LSM）的临床与病理特点。方法 回顾性分析4例可能LSM患者的临床资料。结果 本组患者为亚急性或慢性起病，主要表现为近端肌无力，疲劳不能耐受；血清肌酶有不同程度的升高；肌电图示肌源性损害；病理检查示肌纤维内可见大量细小空泡和裂隙形成；MGT染色无破碎红纤维，油红O染色显示空泡为大量脂滴充填；受累纤维以Ⅰ型纤维为主。电镜证实肌纤维内脂滴堆积，可伴有线粒体的轻度增多。改善能量和糖皮质激素治疗有效。结论原发性肉碱缺乏致LSM是一种以易疲劳和肌无力为主要临床表现的脂质代谢障碍性肌病，病理改变以肌纤维内脂滴堆积为主，一般不伴有线粒体结构的明显异常。糖皮质激素治疗可获得良好疗效。