Jansen type of spondylometaphyseal dysplasia

Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. Received: 4 April 1999 Revision requested: 6 April 1999 Revision received: 29 November 1999 Accepted: 1 December 1999     

宫颈癌组织中HPV16E6序列多态性及同源性分析

目的探讨广东地区宫颈癌组织中HPV16肿瘤相关性抗原E6基因序列的多态性及同源性。方法采用通用引物PCR直接测序法对宫颈癌标本中的HPV分型,从含有HPV16型的标本中采用自行设计的多重引物通过巢式PCR扩增出HPV16E6,经DNA序列测定法检测其基因变异,进而分析其同源性。结果50例宫颈癌组织HPV-DNA的检出率为78%,其中HPV16和HPV18型混合感染18例,单纯HPV16型感染15例。含有HPV16型的标本34例中扩增出HPV16E625例。其中178位核苷酸变异较大,变异率为72%,其相应氨基酸均由天冬氨酸变为谷氨酸。结论HPV16E6DNA序列发生碱基替换的区域主要在氨基端94~241位,羧基端相对保守,未见变异。广东地区宫颈癌组织中HPV16E6的热点突变为Nt178。     

宫颈病变组织中E-cad和β-cat的表达及其意义

目的:研究上皮性钙黏附蛋白 (epithelial cad,E cad)和β 连接素(β catenin,β cat)在宫颈上皮内瘤样病变 (cervicalintraepithelialneoplasia,CIN)和 宫颈鳞癌中的表达及其意义。方法:应用 SP法检测E cad和β cat在正常宫颈上 皮、CINⅠ级、CINⅡ～Ⅲ级及宫颈鳞癌组 织的表达。结果:正常宫颈中E cad和β cat为膜表达。E cad表达在正常宫颈 CINⅠ级、CINⅡ～Ⅲ级和宫颈鳞癌中分别 为86%(12/14)、82%(9/11)、54%(7 13)和21%(8/38);β cat膜表达率分别为 79%(11/14)、64%(7/11)、23%(3/13)和 11%(4/38);E cad表达在正常宫颈与鳞 癌之间、CINⅠ级与鳞癌之间的差异有统 计学意义,P<0.05;在鳞癌的不同病理学 分级和肌层浸润深度之间的差异有统计 学意义,P<0.05。β cat表达在正常宫颈 与CINⅡ～Ⅲ级、宫颈鳞癌以及CINⅠ级 与鳞癌之间差异有统计学意义,P<0.05 在宫颈鳞癌的不同病理分级之间差异有 统计学意义,P<0.05。宫颈鳞癌中,E cad与β cat的表达形式具相关性,P< 0.001。结论:E cad和β cat异常表达是 宫颈上皮性肿瘤进展的早期事件;在宫颈 浸润性鳞癌中,它们的异常表达可能与肿 瘤的侵袭潜能有关。     

Mandibulo-acral dysplasia

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. Received: 22 June 2000 Revision requested: 10 July 2000 Revision received: 7 August 2000 Accepted: 10 August 2000     

胰岛素样生长因子结合蛋白-1预测足月引产分析

目的：探讨定性检测宫颈阴道分泌物胰岛素样生长因子结合蛋白-1(IGFBP-1)预测足月引产成败的价值。方法：64例初产、足月、头位、有引产指征的孕妇在引产前行宫颈分泌物IGFBP—1定性测定，然后行PV检查了解宫颈条件得出Bishop评分。选用口服米索前列醇25μg，3h1次，引产。结果：IGFBP-1预示引产成功的敏感度、特异度、阳性预测值及阴性预测值均优于宫颈Bishop评分。IGFBP-1阳性组引产成功的时间短于阴性组，引产用药次数也较阴性组少。当IGFBP-1阳性且宫颈柔软时96％在3d内引产成功。结论：IGFBP-1是反映宫颈成熟的良好指标，单纯利用IGFBP-1预示引产成败较Bishop评分更有效，两者结合预示引产准确性更高。     

利用cDNA微阵列进行宫颈鳞癌的分子筛查

目的使用cDNA微阵列筛选浸润性宫颈鳞癌的淋巴结转移相关基因。方法应用包含18 432个基因的cDNA微阵列测定IB期宫颈鳞癌的全基因序列,包括已知功能的人类转录子和表达序列标签ESTs,分为正常组、淋巴转移组、无淋巴转移三组宫颈组织。为了证实不同的基因表达,选择3个基因进行了冰冻组织的RT-PCR检测和石蜡组织的免疫组化检测。结果经统计学分析,与无淋巴转移浸润性宫颈鳞癌组织比较,有淋巴转移的癌组织有677个基因大于2倍差异,其中上调494个(72.97%),下调183个(27.03%),表达序列标签EST为61个(9.01%),这些基因涉及代谢、发育、信号传导、分化、DNA结合转录和离子通道等。6倍差异基因14个,其中只有nel(chicken)like-2下调,其余为上调基因。RT-PCR和免疫组化的结果与cDNA微阵列结果一致。结论利用cDNA微阵列检测基因的表达状态可以预测宫颈鳞癌淋巴结转移和宫颈癌的预后情况。Cx43的低表达、ETV5和整合素alpha 2的高表达可能会成为评估浸润性宫颈鳞癌恶性程度的重要指标。这些分子有利于预测浸润性宫颈鳞癌的预后及其相应的分子治疗。     

Association between CD31 expression and histopathologic features in stage IB squamous cell carcinoma of the cervix

This study was undertaken to evaluate the association between the expression of CD31 in the tumor and the histopathologic findings in patients with carcinoma of the cervix. This study included prospectively 30 women, aged 46.6 +/- 10.7 years, with stage IB squamous cell carcinoma of the cervix submitted to radical hysterectomy from November 2001 to September 2002. Samples from the tumor were taken and immunohistochemically evaluated by a monoclonal antibody for CD31. Clinicopathologic characteristics such as stage, tumor size, grade of differentiation, lymphatic vascular space invasion (LVSI), parametrial involvement, and status of pelvic lymph nodes were also recorded. The clinical stage (FIGO) was IB1 in 22 patients (73.3%) and IB2 in 8 patients (26.7%). The expression of CD31 was significantly associated with tumor size and the presence of LVSI, but not with grade of differentiation and vaginal or parametrial involvement (P= 0.03, P= 0.032, P= 0.352, P= 0.208, and P= 0.242, respectively). On univariate analysis, the presence of pelvic lymph node metastasis was influenced by LVSI (P= 0.003) and CD31 expression (P= 0.032). However, on multivariate analysis, the presence of LVSI (P= 0.007) was the only independent predictor of pelvic lymph node metastasis. The CD31 expression in tumor is significantly associated with LVSI and tumor size in patients with early-stage squamous cell carcinoma of the cervix.     

Risk factors for the progression or persistence of untreated mild dysplasia of the uterine cervix

To identify the factors that may predict the progression or persistence of untreated mild dysplasia of the uterine cervix, we performed a retrospective review of 118 patients with histologically verified mild dysplasia who underwent colposcopic biopsies between January 1999 and December 2003. Regression to normal occurred in 70.3%, progression to moderate dysplasia or worse occurred in 11.0%, and persistence of mild dysplasia occurred in 18.7%. In regression/progression analysis, progression of untreated mild dysplasia was 34.5% (10/29) in patients with high viral loads (> or =100 relative light units/positive control [RLU/PC]) and 4.5% (3/67) in those with low viral loads (1 to <100 RLU/PC) and negative human papillomavirus (HPV) tests (P < 0.001). Women with high viral loads had a 13-fold greater chance of progression of untreated mild dysplasia than those with low viral loads and negative HPV tests (CI: 2.494-95.297; P = 0.0022). Those associated with both positive smear and positive HPV test (12/45 = 26.7%) were at a greater risk of progression of untreated mild dysplasia as compared with those with positive smear and negative HPV (0/17 = 0.0%) or those with negative smear and positive HPV test (1/18 = 5.6%). Those with high viral loads and both with positive smear and positive HPV test should be followed closely because of their increased risk of progression of untreated mild dysplasia.     

Hypertrophic perineurial dysplasia in multifocal and generalized peripheral neuropathies

Two cases are described, one with a multifocal cranial and limb neuropathy of adult onset associated with optic neuropathy, and the other with a diffuse demyelinating neuropathy characterized by congenital cataract, mental retardation and progressive lower limb paresis with an onset in childhood. Extensive investigation in both failed to establish the causation. No family history of similar disorder was obtained in either case. Nerve biopsy in both showed similar perineurial abnormalities, the endoneurium being compartmentalized by hypertrophic perineurial cells that exhibited dysplastic features. The appearances resemble those described in a previously reported case of multifocal neuropathy and probably represent an unusual but non-specific response to a peripheral neuropathy.