Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion

We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intrauterine growth retardation, dysmorphic features and limbs abnormalities. Using fluorescent in situ hybridization technique (FISH), we characterized the deletion boundaries corresponding to the bacterial artificial chromosomes (BAC) RP11-193J5 and RP11-162L13. Molecular studies identified the deletion of paternal origin. Therefore the karyotype was interpreted as 46,XY,del(1)(q24.2q25.2). This is the smallest deletion of the long arm of chromosome 1 reported prenatally and characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature.     

以LongSAGE方法寻找不同菌相生长白念珠菌细胞差异表达基因

目的 以长片段基因表达系列分析技术（LongSAGE）寻找酵母相和菌丝相生长的白念珠菌细胞差异表达基因。方法 采用LongSAGE方法，分别构建白念珠菌酵母相和菌丝相细胞Long—SAGE标签文库，比较文库获得不同菌相生长白念珠菌细胞差异表达基因。结果 成功构建了白念珠菌酵母相和菌丝相细胞的LongSAGE标签文库，比较文库获得了白念珠菌酵母相和菌丝相细胞间差异表达的单基因匹配标签。结论 用LongSAGE方法较完整地获得了白念珠菌酵母相和菌丝相细胞基因表达谱及其丰度的量化信息，文库间比较可获得不同菌相生长白念珠菌差异表达基因。     

Testosterone, androstenedione, and 5alpha-dihydrotestosterone on male sexual behavior and penile spines in the hamster

The expression of masculine sexual behavior (MSB) in male hamsters is optimally stimulated by aromatizable androgens like androstenedione (AD) and testosterone (T), while the non-aromatizable androgen, 5alpha-dihydrotestosterone (DHT), exerting potent androgenic peripheral effects, only in high doses maintains MSB after castration. No data exist on the ability of these androgens to restore long intromissions after castration. In this study, AD, T, and DHT were administered to four-week gonadectomized, sexually experienced male hamsters, for three weeks, in doses of 25 microg/day or up to 1000 microg/day to compare their potency in restoring MSB, penile size, and penile spines growth. Plasma levels of these steroids and the metabolites estrone and estradiol, were determined at the end of the treatment period. Gonadectomy completely suppressed MSB and induced a regression of penile spines. AD was more potent than T in restoring MSB, ejaculatory behavior being displayed by most castrated subjects with a lower dose of AD (50 microg/day) than of T (300 microg/day), and long intromissions being shown by all AD-treated castrated hamsters but only by 20% of T-treated ones, when doses of 1000 microg/day were given. DHT did not stimulate any copulatory response. The three androgens, even at the lowest dose, partially stimulated penis and penile epithelium growth, DHT showing the highest potency. Treatment of castrated hamsters with AD (50 microg/day), restored steroid levels to similar values as those of intact animals. These results show that AD and T restored MSB even with a partial stimulation of penile spines growth, AD being more potent than T. In contrast, DHT did not restore MSB in the hamster in spite of its peripheral androgenic potency.     

Long electrodes for radio frequency ablation: comparative study of surface versus intramural application

There is increasing use of radio frequency (RF) ablation with long electrodes in the intraoperative treatment of atrial fibrillation. Nevertheless, the disparity in the lesion geometry in both depth and width is the major pitfall in the use of RF currents. The objective of this study was to differentiate the shape and size of long lesions created by three surface application electrodes (SAE) and two intramural electrodes (IE). The SAE included a standard multi-polar catheter, and two standard electrosurgical pencils. The IE consisted of a needle and a wire both intramurally buried. The lesions were created on fresh fragments of porcine ventricular tissue. The IE created lesions with a curved prism-like shape around the electrode body, with homogeneous characteristics along the lesion trajectory. On the contrary, the lesions created with the SAE were in the shape of an hourglass. They showed a different geometry between the central zone and the edge zone (p<0.001 for depth and surface width). Electrical impedance evolution was recorded during the RF heating. We observed a slow decrease of the impedance in all the electrodes, except in the wire electrode. In conclusion, the results suggest that the IE might be a more suitable option than SAE when it is necessary to create long and homogeneous thermal lesions.     

基于三维打印及三维数据校正的骨折复原技术在股骨近端骨折治疗中的应用

目的 探讨三维(3D)打印的股骨近端骨折复原模型在术前规划与术中的应用,研究3D数据校正方案临床应用的可行性。方法 纳入2015年10月—2017年9月江苏省溧阳市人民医院骨科47例股骨近端骨折患者,按照左右两侧股骨自身配对方案,采用三层面长短轴对照方法进行前瞻性研究。所有病例行双侧股骨全长的CT扫描,获取DICOM数据,通过Mimics 15.0软件将双侧股骨远端距离膝关节髁间隆突凹5、10、15 cm处分别做3个横截面,记录符号为DF5、DF10、DF15。测量对比左右侧长轴与左右侧短轴。对于Mimics软件中股骨解剖轴线与冠状面和矢状面同时存在夹角的数据,进行3D数据校正。对47例股骨远端的左右侧3个层面(DF5、DF10、DF15)的长短轴(6对)进行数据汇总,通过Mimics 15.0软件生成3D模型的STL文件,打印出实际尺寸的股骨近端骨折模型和健侧股骨近端镜像模型,该镜像模型作为术前演练及手术解剖复位的参考,术中使用预演选取的置入物并术后摄片对比。结果 成对样本的相关系数均＞0.97;左右两侧股骨远端距离髁间隆突5 cm处的右侧短轴(28.20±3.41) mm,左侧短轴(28.54±3.51) mm,差异有统计学意义(t=3.404, P＜0.01),其余5对左右侧差异无统计学意义(P值均＞0.05)。47例患者均进行了手术治疗,术后复查X线,显示置入物选择与螺钉长度与术前设计符合,长度偏差在容许范围,内固定满意。结论 采用“三层面长短轴对照”进行左右股骨对称性判断,偏差小于5%者,术中直接采用镜像模型预演的置入物,固定效果满意,达到了术前规划,术中应用的预期目的。“三维数据校正方案”扩充了“三层面长短轴对照”的数据选取范围,有效避免了因肢体倾斜导致的数据失效问题。     

长链非编码RNA PVT1调控miR-551通过Wnt信号通路对卵巢癌迁移和侵袭的影响

目的:探讨长链非编码RNA PVT1在卵巢癌组织中的表达情况及其在卵巢癌细胞迁移和侵袭过程中的作用及机制。方法:q PCR检测卵巢癌和正常卵巢组织及不同卵巢癌细胞中PVT1的表达情况;Transwell侵袭实验和细胞划痕实验分别检测沉默PVT1后卵巢癌细胞侵袭和迁移能力的变化;双萤光素酶报告基因检测PVT1与微小RNA(miR)-551的相互作用;Transwell侵袭实验和细胞划痕实验分别检测沉默PVT1后miR-551-inhibitor对卵巢癌细胞侵袭和迁移能力的影响;Western blot法检测沉默PVT1后Wnt信号通路相关蛋白的表达情况。裸鼠皮下成瘤实验检测沉默PVT1对卵巢癌成瘤重量及体积的影响。结果:与正常卵巢组织相比,卵巢瘤组织中PVT1表达明显增高(P0.05);卵巢癌细胞株ES-2中PVT1表达水平最高(P0.05);沉默PVT1可以抑制卵巢癌细胞侵袭和迁移能力;PVT1能与miR-551的位点特异性结合;沉默PVT1后,miR-551-inhibitor可以促进卵巢癌细胞侵袭和迁移能力;沉默PVT1后Wnt信号通路蛋白的表达相应下调;与阴性对照组相比,PVT1-siRNA组荷瘤小鼠肿瘤体积和重量都明显减小(P0.05)。结论:PVT1在卵巢癌发生发展过程中起重要作用,它可以靶向调节miR-551,通过Wnt信号通路调控卵巢癌细胞的侵袭和迁移能力。     

LncRNA-DANCR: A valuable cancer related long non-coding RNA for human cancers

Objectives

Long noncoding RNAs (lncRNA) are a type of noncoding RNA that comprise of longer than 200 nucleotides sequences. They can regulate chromosome structure, gene expression and play an essential role in the pathophysiology of human diseases, especially in tumorigenesis and progression. Nowadays, they are being targeted as potential biomarkers for various cancer types. And many research studies have proven that lncRNAs might bring a new era to cancer diagnosis and support treatment management. The purpose of this review was to inspect the molecular mechanism and clinical significance of long non-coding RNA- differentiation antagonizing nonprotein coding RNA(DANCR) in various types of human cancers.

Genome‐wide association study of lncRNA polymorphisms with bone mineral density

Recent studies suggested that long noncoding RNAs (lncRNAs) were widely transcribed in the genome, but their potential roles in the genetic complexity of human disorders required further exploration. The purpose of the present study was to explore genetic polymorphisms of lncRNAs associated with bone mineral density (BMD) and its potential value. Based on the lncRNASNP database, 55,906 lncSNPs were selected to conduct a genome‐wide association study meta‐analysis among 11,140 individuals of seven independent studies for BMDs at femoral neck (FN), lumbar spine, and total hip (HIP). Promising results were replicated in Genetic Factors for Osteoporosis Consortium (GEFOS Sequencing, n = 32,965). We found two lncRNA loci that were significantly associated with BMD. MEF2C antisense RNA 1 (MEF2C‐AS1) located at 5q14.3 was significantly associated with FN‐BMD after Bonferroni correction, and the strongest association signal was detected at rs6894139 (P = 3.03 × 10^?9). LOC100506136 rs6465531 located at 7q21.3 showed significant association with HIP‐BMD (P = 7.43 × 10^?7). MEF2C‐AS1 rs6894139 was replicated in GEFOS Sequencing with P‐value of 1.43 × 10^?23. Our results illustrated the important role of polymorphisms in lncRNAs in determining variations of BMD and provided justification and evidence for subsequent functional studies.