结核性脑膜炎的CT诊断(附16例分析)

目的：通过分析16例结核性脑膜炎的CT表现及其产生的病理基础，提高对本病的认识和诊断水平。方法：16例结核性脑膜炎病人采用常规头颅CT扫描，对其影像及临床资料进行回顾性分析。结果：脑基底池、侧裂池变窄12例(75％)，合并密度增高8例(50％)；不同程度的脑积水14例(88％)；脑梗塞8例(50％)；结核瘤1例(6％)。结论：结核性脑膜炎的主要CT征象是脑基底池、侧裂池变窄，同时有不同程度的脑积水。如同时伴有脑结核瘤，可作出诊断。     

肢体缺血/再灌注后氧自由基与Bax蛋白、细胞凋亡的关系

目的　阐明氧自由基与Bax蛋白、细胞凋亡在大鼠肢体缺血 /再灌注不同时相中的变化规律及相互关系。方法　采用大鼠股动脉夹闭模型 ,阻断股动脉血流 5h后再灌注 ,设立缺血组、再灌注组 ,再灌注组设立 1,6 ,12 ,2 4h 4个检测时相 ,应用硫代巴比妥酸法测定肌肉组织中脂质过氧化产物丙二醛 (MDA)水平 ,应用免疫组化方法测定Bax蛋白表达的变化 ,应用原位末端标记法及电镜方法观察细胞凋亡现象。结果　随着再灌注时间的延长 ,MDA水平、Bax蛋白表达强度、细胞凋亡指数 (AI)进行性升高 ,且三者呈显著正相关。结论　氧自由基与细胞凋亡同时参与肢体再灌注损伤 ,氧自由基可能通过调节Bax蛋白表达促进细胞凋亡的发生。     

寰枕关节完全骨化2例伴先天脊柱裂1例

笔者在整理100余套散骨标本时,发现有两例寰枕关节完全骨化、愈合,其中1例伴有先天性脊柱裂,此类标本实属罕见,现将观察和测量结果报告如下:     

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family

Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1‐4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3‐BDA4 phenotypes.     

C and V proteins of Sendai virus target signaling pathways leading to IRF-3 activation for the negative regulation of interferon-beta production

We here report a molecular basis for downregulation of interferon (IFN)-beta production by V and C proteins of Sendai virus (SeV). The infection of HeLa cells with SeV poorly induced IFN-beta even if the expression of C/C' was disrupted. In contrast, when the expression of C/C'/Y1/Y2 or V/W was disrupted, SeV infection strongly induced IFN-beta production and significantly activated the interferon regulatory factor (IRF)-3 pathway. The independent expression of C or V inhibited the double-stranded (ds) RNA- or Newcastle disease virus (NDV)-induced activation of IRF-3 and NF-kappa B, as well as the IFN-beta promoter. This inhibitory effect was also observed when Y1, Y2, or a C-terminal half fragment (aa 85-204) of C was independently expressed. Phosphorylation and homodimer formation of IRF-3 were suppressed not only in cells infected with SeV capable of expressing both C/C'/Y1/Y2 (or Y1/Y2) and V/W, but also in HeLa cells constitutively expressing Y1. These results suggest that C, Y1, Y2, and V block signaling pathways leading to IRF-3 activation to downregulate IFN-beta production.     

Differential effects of Th1, monocyte/macrophage and Th2 cytokine mixtures on early gene expression for glial and neural-related molecules in central nervous system mixed glial cell cultures: neurotrophins, growth factors and structural proteins

Background  

In multiple sclerosis, inflammatory cells are found in both active and chronic lesions, and it is increasingly clear that cytokines are involved directly and indirectly in both formation and inhibition of lesions. We propose that cytokine mixtures typical of Th1 or Th2 lymphocytes, or monocyte/macrophages each induce unique molecular changes in glial cells.     

TRP超家族与肾脏

TRP(Transient receptor potentical)家族是非选择性阳离子通道家族，近来发现其与肾脏关系密切，如调节肾小管离子转运，肾脏微循环等。TRP通道异常可导致遗传性局灶节段硬化性肾病（FSGS），常染色体显性遗传多囊肾(ADPKD)，低镁血症继发低钙血症(HSH)等，对TRP通道的进一步研究将有助于临床肾脏病的防治。     

Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction

Partial androgen insensitivity with sex phenotype variation in two unrelated families was associated with missense mutations in the androgen receptor (AR) gene that disrupted the AR NH(2)-terminal/carboxy terminal interaction. Each mutation caused a single amino acid change within the region of the ligand-binding domain that forms activation function 2 (AF2). In one family, the mutation I737T was in alpha helix 4 and in the other F725L was between helices 3 and 4. Neither mutation altered androgen binding as determined by assays of mutant AR in the patient's cultured genital skin fibroblasts or of recombinant mutant receptors transfected into COS cells. In transient cotransfection assays in CV1 cells, transactivation with the AR mutants at low concentrations of DHT was reduced several fold compared with wild-type AR but increased at higher concentrations. Defects in NH(2)-terminal/carboxy terminal interactions were identified in mammalian two hybrid assays. In similar assays, there was reduced binding of the p160 coactivators TIF2/SRC2 and SRC1 to the mutant AR ligand binding domains (LBD). In the family with AR I737T, sex phenotype varied from severely defective masculinization in the proband to a maternal great uncle whose only manifestation of AIS was severe gynecomastia. He was fertile and passed the mutation to two daughters. The proband of the F725L family was also incompletely masculinized but was raised as a male while his half-sibling by a different father was affected more severely and reared as a female. These studies indicate that the function of an AR AF2 mutant in male development can vary greatly depending on the genetic background.     

DNA prime followed by protein boost enhances neutralization and Th1 type immunity against FMDV

Prime-boost strategy has been exhibited its potency to enhance immune responses, which would be important to the success to develop a vaccine against the foot-and-mouth disease virus (FMDV). An eukaryotic expression construct encoding the FMDV capsid VP1 protein with a recombinant VP1 protein or a commercial FMDV vaccine were tested in the prime-boost strategy in mice and cattle trials. The levels of induced specific antibodies, T cell proliferations, and DTH activities were significantly higher in the prime-boost groups than in those vaccinated with DNA, protein or FMDV vaccine alone. More importantly, the levels of neutralizing antibodies in the former groups were significantly higher than others and could last for at least four months in cattle trials. This study suggests that the prime-boost strategy significantly improves the effective immunity and may provide a longer protection against FMDV infection.