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     

使用反距离权重内插法绘制中国1990年代肿瘤分布地图

目的 绘制中国1990年代死因回顾1／10人口抽样调查肿瘤分布地图，展示中国1990年代肿瘤的地理分布和区域性集中趋势。方法 利用1990年代的全国死因抽样调查数据，根据中国1964年人口年龄分布计算标准化死亡率，以中国1990年代数字地图为背景，在Arcview软件支持下，利用反距离权重内插法（IDW）预测非采样地区的死亡率数值，绘制肿瘤死亡分布地图。结果 现已完成全国1990年代肿瘤分布地图绘制，与填充法相比，IDW所绘地图死亡率分布边续且过渡平滑，显示出肿瘤地区分布特点。结论 利用IDW根据抽样区域数据预测其他区域数据，可以实现用抽样数据绘制全国肿瘤分布地图，结果仍可以较为准确地反映出肿瘤分布规律。     

工作场所空气中奥克托今高效液相色谱测定方法研究

目的：建立工作场所空气中奥克托今的高效液相色谱测定方法。方法：按照《工作场所空气中毒物检测方法的研制规范》的要求，进行实验室试验和验证试验及现场应用试验。结果：方法的检测限为0．81μg／ml（进样10μl洗脱液），最低检出浓度为0．017mg／m^3（以采集240L空气样品计）。当HMX含量为0—200．0μg／ml时，标准曲线线性关系良好。相关系数r=0．9999．高、中、低3个浓度的样品，6次重复测定，相对标准偏差为0．12％，1．30％，洗脱效率为94．88％～104．75％，方法的回收率为94．27％～102．05％，样品在室温至少可保存14d，奥克托今浓度为0．12，39，82mg／m^3，采样效率为91．20％～100．00％，工作场所空气中与奥克托今共存的三硝基甲苯、黑索今、二硝基甲苯，对奥克托今测定无干扰。结论：本方法各项指标达到《工作场所空气中毒物检测方法的研制规范》的要求，适用于工作场所空气中奥克托今的现场监测及样品纯度的检测。     

荧光定量PCR产前快速诊断唐氏综合征可行性研究

目的建立快速高效的产前诊断唐氏综合征的分子生物学方法。方法分别在21号染色体上选取7个微卫星重复序列(SmallTandemRepeat,STR)(D21S1433,D21S1442,D21S1444,D21S1411,D21S1412,D21S1413,D21S1414)作为遗传标记,利用荧光定量PCR(QF-PCR)扩增技术及片段分析技术,对250例羊水标本进行检测,并与羊水标本染色体核型分析结果进行对比。结果250例羊水标本中,核型分析发现24例21三体,2例性染色体数目异常,24例唐氏综合征样本采用QF-PCR全部检出。224例正常羊水标本中,QF-PCR检出阴性标本223例,1例样本呈假阳性,假阳性率为0.4%,24例21三体标本中,七对引物同时检测诊断阳性率为100%。所有试验结果均在24h内得出。结论QF-PCR作为一种快速、准确、高效的分子生物学方法,对诊断唐氏综合征具有重要意义。     

Population genetics of the hypervariable locus D12S391 in Koreans

The hypervariable short tandem repeat (STR) locus D12S391 was investigated in a Korean population and 34 fragments were sequenced to confirm the structure of alleles. From these sequenced fragments an allelic ladder containing 13 sequenced alleles was constructed. From 595 unrelated Koreans, 14 alleles were detected and one variant allele 19.3 was observed. The observed heterozygosity was 0.795 and no deviation from Hardy-Weinberg equilibrium was observed in the Korean population (p = 0.606). The allele frequency distribution in the Korean population was not similar to other racial or ethnic groups except for Egyptians, Yemenis, Japanese and Caucasoids from the Rhine area. No mutations were observed in the 702 meioses from 144 Korean families. This study demonstrates that the STR locus D12S391 is a useful tool for forensic identification and parentage testing. Received: 15 September 1999 / Accepted: 18 December 1999     

Forensic identification of skeletal remains from members of Ernesto Che Guevara’s guerrillas in Bolivia based on DNA typing

We report the positive identification of several members of the guerrillas led by Ernesto “Che” Guevara on the 1960 s in Bolivia by means of DNA fingerprinting. Successful DNA typing of both short tandem repeat loci and the hypervariable region of the human mitochondrial DNA was achieved after extracting total DNA from bones obtained from two burial sites. Given the size of the Cuban database for the STR allele frequencies, a conservative approach was followed to estimate the statistical significance of the genetic evidence. The estimated probabilities of paternity for the two cases in which the paternity logic was applied were higher than 99%. One case was analyzed using mitochondrial DNA and could not be excluded from the identity proposed by the forensic anthropology team. A fourth case was identified by exclusion, on the basis of the positive identification of the other remains, the historical and other anthropological evidence. Received: 19 January 1999 / Received in revised form: 15 April 1999     

儿童身材矮小的病因分析及遗传学诊断

目的 探讨身材矮小患儿的病因分布及遗传学诊断。方法 回顾性分析86例身材矮小患儿的病因分布及临床特征。结果 86例身材矮小患儿中,病因有6种,以特发性矮小症（ISS,41%）和生长激素缺乏症（GHD,29%）最常见,遗传性疾病（14%）次之。将遗传性疾病组与ISS组、GHD组比较显示,各组患儿就诊年龄、身高、出生身长、出生体重、父母身高及胰岛素样生长因子1（IGF-1）水平差异均无统计学意义（P > 0.05）,但遗传性疾病组身高距同年龄同性别个体身高第3百分位数的差值（ΔP3）和身高标准差评分（HtSDS）显著低于ISS组（P < 0.05）,但与GHD组相比差异无统计学意义（P > 0.05）。对遗传性疾病组患儿的临床表现进行分析,显示不同遗传性疾病表型谱存在异质性及表型重叠性。结论 ISS、GHD和遗传性疾病是儿童身材矮小的主要病因。对存在严重身材矮小的患儿,在除外GHD外,有必要进一步行遗传学检查明确诊断。     

An unusual origin of the celiac trunk and the superior mesenteric artery in the thorax

The authors report a case of a 44‐year‐old male found to have unusual origins of the celiac trunk (CT) and superior mesernteric artrery (SMA) as revealed by routine multidetector computed tomograph (MDCT) angiography. The CT and SMA originate from the thoracic aorta (TA) 21 mm and 9 mm above the aortic hiatus, respectively. The median arcuate ligament (MAL) is located at the level of the L1–L2 intervertebral disc. The course of the CT descends in the thoracic cavity making a 14° acute downward angle in front of the TA; below the level of the MAL, the CT descends, making an angle of 47°. The course of the SMA descends at both the thoracic and abdominal level making an angle of 17°, and having an aortomesenteric distance of 9 mm at the level of the third part of the duodenum. In the present case, the supradiaphragmatic origin of the CT and the SMA was determined by their incomplete caudal descent, associated with a pronounced apparent descent of the diaphragm. A thoracic origin of the CT and SMA and the acute downward aortomesenteric angle (17°) associated with a reduced aortomesenteric distance at the level of the third part of the duodenum (9 mm), although no clinical signs are present, may predispose the patient to develop simultaneously a triple syndrome: the compression of CT by MAL (celiac axis compression syndrome), the compression of SMA by MAL (superior mesenteric artery compression syndrome), and the compression of the duodenum by the SMA (superior mesenteric artery syndrome). Clin. Anat. 26:975–979, 2013. © 2013 Wiley Periodicals, Inc.     

健康调查简表及其在妇科疼痛相关疾病中的应用进展②

本文介绍健康调查简表(SF-36)的发展及引进中国后在临床的应用概况，重点介绍其在妇科以慢性盆腔疼痛为主要症状相关疾病，如盆腔炎、子宫内膜异位症等的应用概况。临床如能将SF-36与特定疾病量表结合，将为妇科慢性盆腔疼痛评估提供一个重要而有意义的工具。