A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis

BACKGROUND: Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated. OBJECTIVES: To determine the locus of DSAP and identify the candidate gene(s) of the disease. METHODS: Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations. RESULTS: Linkage analysis showed that the maximum two-point lod score of 5.56 was obtained with the marker D12S79 at a recombination fraction theta of 0.00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1-24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family. CONCLUSION: SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.     

Intraesophageal MnSOD-plasmid liposome enhances engraftment and self-renewal of bone marrow derived progenitors of esophageal squamous epithelium

We evaluated whether the improved esophageal radiation tolerance following Manganese Superoxide Dismutase (MnSOD)-Plasmid Liposomes was explained by improved engraftment of bone marrow-derived progenitors. C57BL/6NHsd female mice pretreated with intraesophageal MnSOD-PL were irradiated to 29 Gy to the esophagus and intravenously transplanted with marrow from male B6. 129S7-Gt (ROSA) 26S OR/J ROSA (Lac-Z+, G418-resistant) mice. After 14 days, esophagi were removed and side population and non-side population cells evaluated for donor multilineage (endothelin/vimentin/F480) positive esophageal cells. Serial intravenous transplantability was tested in second generation 29 Gy esophagus-irradiated mice. Esophagi from recipients receiving swallowed MnSOD-PL 24 h prior to irradiation demonstrated significantly increased esophageal repopulation with donor bone marrow-derived Lac-Z+, G418+, Y-probe+ multilineage cells (37.8+/-1.8>50 cell Lac-Z+ foci per esophagus) compared to irradiated controls (19.8+/-1.8) P<0.0001. Serial transfer to second-generation irradiated C57BL/6NHsd mice of intravenously injected SP or NSP first generation recipient esophagus cells was also significantly enhanced by MnSOD-PL intraesophageal pretreatment (74.4+/-3.6 SP-derived Lac-Z+ foci per esophagus, 48.6+/-5.4 NSP-derived) compared to irradiation controls (23.4+/-1.8 SP, 6.0+/-3.0 NSP), P<0.0001. Thus, intraesophageal MnSOD-PL administration enhances engraftment of marrow-derived progenitors.     

A two pathway model for tonic suppressed-by-contrast cells in the cat retina

A two pathway spatiotemporal model is proposed to describe the function of tonic suppressed-by-contrast cells of the cat retina. The model is able to describe the experimentally determined responses of such neurons to drifting sinusoidal gratings. It is also able to predict their responses to alternating sinusoidal gratings and flashing or moving spots of light, and these predictions resemble experimental observations, at least qualitatively. The model is physiologically plausible, it can be used to summarize the dynamic responses of the tonic suppressed-by-contrast cells of the cat and potentially to account for the responses of the suppressed-by-contrast cells of other species.     

影像学技术在脉“形”属性特征获取上的应用

目的:应用MRI与B超的影像学方法获取脉"形"属性特征, 并进行比较。方法:选择年龄在20-30岁之间的健康志愿者,采用成熟的脉浮变、沉变、滑变及芤变造模方法,应用NX-8型可视化脉诊信息采集分析仪及 Magnetom Avanto1.5T超导磁共振成像仪观察寸口桡动脉血管运动,测定反映脉"形"属性的相关指标。结果:MRI与B超均可获得可视化脉动信息影像,且在脉诊信息有效获取价值上二者无明显区别。脉位浮变、滑变和芤变时,寸口桡动脉明显扩张,其横截面的直径和面积均明显增大,均呈现脉形属性偏宽的改变。而脉位沉变时,血管口径、面积均减小;呈现脉形属性偏窄的改变。结论:可利用成熟的B型超声技术采集中医寸口桡动脉的血管运动信息以获取脉"形"属性特征。     

Differentially expressed genes between primary cancer and paired lymph node metastases predict clinical outcome of node-positive breast cancer patients

The axillary lymph node status remains the most valuable prognostic factor for breast cancer patients. However, approximately 20-30% of node-positive patients remain free of distant metastases within 15-30 years. It is important to develop molecular markers that are able to predict for the risk of distant metastasis and to develop patient-tailored therapy strategies. We hypothesize that the lymph node metastases may represent the most metastatic fraction of the primary cancers. Therefore, we sought to identify the differentially expressed genes by microarray between the primary tumors and their paired lymph node metastases samples collected from 26 patients. A set of 79 differentially expressed genes between primary cancers and metastasis samples was identified to correctly separate most of primary cancers from lymph node metastases. And decreased expression of matrix metalloproteinase 2, fibronectin, osteoblast specific factor 2, collagen type XI alpha 1 in lymph node metastases were further confirmed by real-time RT-PCR performed on 30 specimen pairs. This set of genes also classified 35 primary cancers into two groups with different prognosis: "high risk group" and "low risk group." Patients in "high risk group" had a 4.65-fold hazard ratio (95% CI 1.02-21.13, P = 0.047) to develop a distant metastasis within 43 months comparing with the "low risk group." This suggested that the gene signature consisting of 79 differentially expressed genes between primary cancers and lymph node metastases could also predict clinical outcome of node-positive patients, and that the molecular classification based on the gene signature could guide patient-tailored therapy.     

HPV16 E6小干扰RNA对人宫颈癌裸鼠移植瘤的抑制作用

目的探讨HPV16 E6小干扰RNA(siRNA)对人宫颈癌移植瘤的抑制作用。方法建立人宫颈癌CaSki细胞裸鼠皮下接种模型,将HPV16 E6 siRNA注入瘤体内(实验组),同时设对照组,动态观察并测定肿瘤的生长。采用原位末端标记(TUNEL)法检测肿瘤细胞凋亡情况;免疫组化法测定E6、p53蛋白的表达;检测血清丙氨酸转氨酶(ALT)和天冬氨酸转氨酶(AST)含量;光镜观察肝肾脏结构的改变。结果HPV16 E6 siRNA处理后,肿瘤生长明显受到抑制,实验组肿瘤体积[(0.21±0.06)cm3]及瘤重[(0.13±0.04)g]均明显降低,与对照组差异有统计学意义(P<0.05);实验组肿瘤细胞凋亡[(29.8±1.4)%]明显增加,E6和p53蛋白表达均下调;实验组和对照组血清ALT、AST含量无明显差异,实验组肝肾脏结构无明显异常。结论HPV16 E6 siRNA能够抑制宫颈癌移植瘤生长,且对肝脏无毒副作用,可为官颈癌的治疗提供一个新的特异性基因治疗方法。     

Erratum to: Thymosin Alpha 1 is Associated with Improved Cellular Immunity and Reduced Infection Rate in Severe Acute Pancreatitis Patients in a Double-Blind Randomized Control Study

The aim of this prospective, double-blinded pilot trial study was to evaluate the effects of Thymosin alpha 1 use in the early phase on immunomodulation and clinical outcomes in patients with severe acute pancreatitis (SAP). A total of 24 patients with SAP were randomized to receive either conventional therapy for SAP or immunomodulatory therapy (TA1 group). The patients in the thymosin group were injected with Talpha1 3.2 mg twice per day for 7 days. The serum level of HLA-DR and CD4/CD8 ratio and other immune parameters were measured on admission, the 8th day and the 28th day. There was a low expression of monocyte HLA-DR in both groups on admission, and more rapid alterations in the HLA-DR were found in the TA1 group. The positive rates of blood and abdominal drainage culture were statistically significant during the 28th follow-up period. The duration of ICU stay was shorter after TA1 treatment. Improves cell-induced immunity and reduces infection rate in severe acute pancreatitis patients.