MR 弥散加权成像对鉴别诊断良恶性椎体压缩性骨折的临床价值研究

目的：探讨MR弥散加权成像(DWI)鉴别诊断良恶性椎体压缩性骨折的临床价值。方法：对57 例经临床或病理证实的椎体 良恶性压缩性骨折患者行矢状位T1WI、T2WI、T2WI/FS 及DWI扫描,研究其在常规序列和DWI序列上的表现,将常规MR 序列 和DWI序列检出率进行比较,测量正常椎体及病变椎体的表观弥散系数(ADC)值,并进行统计学分析。结果：(1)MR 常规序列和 DWI序列(b=500s/mm2)表现：良性椎体压缩性骨折呈长T1 长或等T2 改变,T2WI/FS 呈高信号,DWI 可以呈高信号、等信号及低 信号;恶性椎体压缩性骨折呈长T1 长T2 信号,大部分病灶T2WI/FS 及DWI呈高信号,少数变现为低信号;(2)MR 常规序列和 DWI 序列(b=500s/mm2)病灶检出率的比较：T1WI、T2WI/FS 及DWI序列病灶检出率均高于T2WI 序列,其间的差别有显著性意 义(P<0.01),T1WI、T2WI/FS 及DWI序列病灶检出率之间无显著性差异(P>0.01);(3)ADC 值比较：在DWI(b=500 s/mm2)上,良性组 ADC 值为(2.03± 0.83)× 10-3mm2/s,恶性组ADC 值为(1.37 ± 0.75)× 10-3mm2/s,正常组ADC值为(0.36± 0.21)× 10-3mm2/s,成像条 件相同时,良性组高于恶性组,两组间有明显的统计学意义(P<0.05)。结论：DWI可较好的反映椎体的弥散特征,ADC值作为量化 指标可对良恶性椎体压缩性骨折进行可靠鉴别。     

从植入前遗传学诊断异常的胚胎中分离人胚胎干细胞系

在体外受精过程中,通过胚胎植入前遗传性诊断（PGD）对有遗传风险患者的胚胎进行植入前活检和遗传学分析,选择无遗传性疾病的胚胎植入子宫,而PGD诊断异常的胚胎则会被丢弃。本研究尝试将PGD异常胚胎用于分离人胚胎干细胞,以获得携带遗传缺陷的人胚胎干细胞系。利用荧光原位杂交技术对第3-5天胚胎进行PGD检测,结果异常的胚胎进一步用于分离获取胚胎干细胞系,然后对h ES细胞系进行核型及干细胞表面标记、多能性基因表达、端粒酶活性以及分化能力等特征性鉴定。总共从13个PGD异常胚胎中分离获得8个人胚胎干细胞系,建系效率为61.5%,其中1个核型正常,5个核型异常。说明利用PGD异常胚胎可以获得携带遗传缺陷的人胚胎干细胞系,不仅为评估PGD技术临床结论的准确性提供了一种新方法,更重要的是为研究各种遗传性疾病的发病机理提供了有效的细胞模型。     

海南细长莱蛛（蜘蛛目：巨蟹蛛科）的雌性新发现

本文首次报道了细长莱蛛Rhitymna macilenta Quan＆Liu2012的雌性,该标本采自海南岛黎母山国家自然保护区,标本保存于湖北大学生命科学学院动物行为与进化中心。细长莱蛛Rhityrmna macilenta Quan＆Liu2012（图1—3）鉴别特征：该种雌蛛可根据其身体苍白,外雌器中板巨大和受精管简单等特征与该属其它种区分。     

阿尔茨海默病嗅觉障碍研究进展

阿尔茨海默病(Alzheimer’s disease,AD)患者在出现认知功能障碍之前,普遍表现出嗅觉相关功能障碍,而且嗅觉系统病变程度与AD进展密切相关。因此,嗅觉系统功能障碍可能成为早期诊断AD及评价其进展的指标。近几年通过对AD患者和AD转基因动物模型的研究发现,嗅觉系统可能是AD退行性病变的始发部位,而且具有从外周向中枢发展的趋势,即病变首先发生于嗅觉系统的近外周部分(嗅上皮、嗅球等),然后发展至嗅皮层(梨状皮层、内嗅皮层等),进而累及海马和新皮层区等。此外,AD病理改变的这种时空模式与嗅觉相关行为障碍、神经通路及递质的改变等具有很高的相关性。重点综述了以上方面的研究结果。     

NSE/αNAE positivity in B-lineage acute lymphoblastic leukemia: revisiting a potential cytochemical diagnostic pitfall

Cytochemical staining for leukemia typing is declining in hematology laboratories, but the use of flow cytometry may not be possible in some settings. Aberrant cytochemical nonspecific esterase/α-naphthyl acetate esterase (NSE/αNAE) positive B-lymphoblasts can cause confusion with monoblasts, a potentially dangerous pitfall. This unusual cytochemical NSE/αNAE positivity had been associated with relatively poorer outcome of acute lymphoblastic leukemia (ALL) in the era prior to the advent of routine multicolor flow cytometric immunophenotyping. We reviewed morphological, cytochemical and flow-cytometric data from five cases of B-lineage ALL that showed NSE/αNAE positivity and were diagnosed definitively using multi-parametric flow cytometric immunophenotypic analysis. Diffuse or dot-like (localized) strong cytochemical NSE/αNAE activity was detected in all cases and all showed one or more features of high risk disease. The number of NSE/αNAE positive blasts in the marrow varied from 10 to 75%. The morphological differential diagnoses included T-lymphoid lineage ALL and acute monoblastic leukemia (AML-M5). Flow cytometric data revealed B-lineage antigens and the absence of monocytic or other myeloid markers resolved the diagnosis. These cases underscore the importance of immunophenotyping in all cases of suspected ALL regardless of the cytochemical findings. Although the numbers are small, the association with high risk disease observed in all five of our cases may corroborate the previously reported poor prognostic value of such aberrant cytochemical staining.     

KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma

Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible for EPPK have been described (Human Intermediate Filament Database, www.interfil.org), and many of these variants are located within the highly-conserved coil 1A region of the α-helical rod domain of keratin 9. Unfortunately, there is no satisfactory treatment for EPPK. Thus, prenatal molecular diagnosis or pre-pregnancy diagnosis is crucial and benefits those affected who seek healthy descendants. In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. We suggest that before the successful application of preimplantation genetic diagnosis (PGD), and noninvasive prenatal diagnosis of EPPK that analyzes fetal cells or cell-free DNA in maternal blood, prenatal genetic diagnosis by amniocentesis or chorionic villus sampling (CVS) offers a quite acceptable option for EPPK couples-at-risk to avoid the birth of affected offspring, especially in low- and middle-income countries.     

The ongoing challenge of latent tuberculosis

The global health community has set itself the task of eliminating tuberculosis (TB) as a public health problem by 2050. Although progress has been made in global TB control, the current decline in incidence of 2% yr⁻¹ is far from the rate needed to achieve this. If we are to succeed in this endeavour, new strategies to reduce the reservoir of latently infected persons (from which new cases arise) would be advantageous. However, ascertainment of the extent and risk posed by this group is poor. The current diagnostics tests (tuberculin skin test and interferon-gamma release assays) poorly predict who will develop active disease and the therapeutic options available are not optimal for the scale of the intervention that may be required. In this article, we outline a basis for our current understanding of latent TB and highlight areas where innovation leading to development of novel diagnostic tests, drug regimens and vaccines may assist progress. We argue that the pool of individuals at high risk of progression may be significantly smaller than the 2.33 billion thought to be immune sensitized by Mycobacterium tuberculosis and that identifying and targeting this group will be an important strategy in the road to elimination.     

Molecular recognition of HER‐1 in whole‐blood samples

Multimode sensing was proposed for molecular screening and recognition of HER‐1 in whole blood. The tools used for molecular recognition were platforms based on nanostructured materials such as the complex of Mn(III) with meso‐tetra (4‐carboxyphenyl) porphyrin, and maltodextrin (dextrose equivalence between 4 and 7), immobilized in diamond paste, graphite paste or C₆₀ fullerene paste. The identification of HER‐1 in whole‐blood samples, at molecular level, is performed using stochastic mode and is followed by the quantification of it using stochastic and differential pulse voltammetry modes. HER‐1 can be identified in the concentration range between 280 fg/ml and 4.86 ng/ml using stochastic mode, this making possible the early detection of cancers such as gastrointestinal, pancreatic and lung cancers. The recovery tests performed using whole‐blood samples proved that the platforms can be used for identification and quantification of HER‐1 with high sensitivity and reliability in such samples, these making them good molecular screening tools. Copyright © 2014 John Wiley & Sons, Ltd.