Boy with a chromosome del (3)(q12q23) and Blepharophimosis syndrome

We report on a 6-year-old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo-phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”.     

流体剪切力在骨生长、重建中的重要作用

骨组织具有最优化结构,是一个典型的结构-功能受生物力学控制的例子。力学因素在骨的生长、重建和成形中起着十分重要的作用,但力学刺激的本质形式至今无法确认。骨组织存在多孔结构,力学负荷引起的变形会促使流体流动对骨细胞产生作用,离体实验也证实骨细胞能对流体产生响应,因此流体剪切力是研究骨组织受力学调控时考虑的一个重要方面。现有的研究主要体现在流体的有效作用形式,细胞的生物学反应,以及流体剪切力在细胞中的力学转导;各个方面的研究都提示,流体剪切力至少部分的参与了骨组织内的力转导。作者就这方面的研究进展作一综述。     

Persistent electrical coupling and locomotory dysfunction in the zebrafish mutant shocked

On initial formation of neuromuscular junctions, slow synaptic signals interact through an electrically coupled network of muscle cells. After the developmental onset of muscle excitability and the transition to fast synaptic responses, electrical coupling diminishes. No studies have revealed the functional importance of the electrical coupling or its precisely timed loss during development. In the mutant zebrafish shocked (sho) electrical coupling between fast muscle cells persists beyond the time that it would normally disappear in wild-type fish. Recordings from sho indicate that muscle depolarization in response to motor neuron stimulation remains slow due to the low-pass filter characteristics of the coupled network of muscle cells. Our findings suggest that the resultant prolonged muscle depolarizations contribute to the premature termination of swimming in sho and the delayed acquisition of the normally rapid touch-triggered movements. Thus the benefits of gap junctions during early synapse development likely become a liability if not inactivated by the time that muscle would normally achieve fast autonomous function.     

Investigation on the Maternal-Infantile Infection with Human Parvovirus B19

With the investigations on pregnant women and newbornsinfected withToxoplasma, rubella virus, cytomegalovirus,herpes simplex virus (TORCH), it was found that humanparvovirus B19 (B19 virus), which belongs to the familyParvoviridae and the genus Erythrovir…     

高脂血症患者血流剪切率的变化及对血管功能的影响

目的：观察高脂血症患者血流剪切率的变化特点及探讨非诺贝特提高血管舒张功能的机制。方法:以20例正常人、62例高甘油三酯血症病人(其中30例予以饮食治疗、32例予非诺贝特治疗)为观察对象，以肱动脉B超测量血流、血管弹性和舒张功能等指标，检测血浆一氧化氮(NO)、氧化型低密度脂蛋白(Ox-LDL)、血脂的变化。结果:高甘油三酯血症病人超声显示平均血流剪切率（MSR）、血流介导的扩张效应(FMD)和血管弹性指标Da、Dr显著小于正常对照组，而平均血管壁紧张度(MCWT)显著大于正常对照组；血Ox-LDL浓度高于、NO水平低于正常对照组，且NO与MSR、 FMD水平呈正相关，与甘油三酯(TG)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)和Ox-LDL浓度呈负相关。8周的低脂饮食治疗可使TC、TG水平下降，但NO、Ox-LDL和血管超声指标未见显著改变；非诺贝特治疗组血管超声MSR 、FMD显著高于对照组，血TG、TC、LDL-C和Ox-LDL浓度低于、NO水平高于对照组。结论:高甘油三酯血症时MSR的下降和氧化因子Ox-LDL的升高共同参与内皮的损伤机制，导致NO水平下降，表现为血管舒张功能的下降和弹性下降，MSR的上升和Ox-LDL的下降有利于内皮功能的修复。     

大鼠成体骨髓干细胞在肾小管上皮细胞再生中的作用

目的：观察肾小管上皮细胞的更新、再生有无来源于骨髓干细胞。方法:建立性别不匹配大鼠间的骨髓移植和肾脏移植模型，通过激光切割技术，将肾小管上皮细胞切割下来，提取其基因组DNA，用针对大鼠Y染色体上性别决定基因（Sry基因）的引物进行PCR反应，以观察提取的DNA中有无Sry基因。结果:据PCR反应结果，在2种模型所取标本的肾小管上皮细胞中，大部分可见Sry基因的存在。结论:骨髓干细胞可能是肾小管上皮细胞再生的一个来源。     

Periosteal osteosarcoma of the femur with bone marrow involvement: A case report

Periosteal osteosarcoma is an exceedingly rare type of chondroblastic osteosarcoma, showing rather better prognosis, and secondary bone marrow involvement is unusual. A case of a 22 year old male with periosteal osteosarcoma of the right femur with an associated bone marrow lesion is presented. The juxtacortical tumor, 16 ×11 × 9 cm, was located on the bone cortex of the upper diaphysis and extended into the surrounding soft tissues. A minimal bone marrow lesion was present, although the bone cortex was quite intact. Microscopically, the tumor consisted exclusively of atypical chondroblastic cells with a small osteoblastic area. The bone marrow lesion, interestingly, contained both multiple nodules of well-differentiated chondrosarcomatous components and a few demarcated foci of atypical spindle cells producing a fine osteoid matrix. It was reasonable to conclude, therefore, that this tumor was a periosteal osteosarcoma with an unusual secondary bone marrow lesion rather than a conventional (central) chondroblastic osteosarcoma with soft tissue invasion. The patients good prognosis with no tumor recurrence or metastasis during more than 7 years follow-up after surgery supports this conclusion.     

Aging effects on spatial tuning of hippocampal place cells in mice

One reason the electrophysiological correlates of hippocampal neurons are of interest is the possibility that they reflect their representational properties, presumably spatial/relational ones. Stable spatial representations, based on activity of ensembles of hippocampal place cells, initially develop through a series of short-episodic spatial tunings. Hence these short-episodic spatial tunings are important for understanding the establishment of stable place fields. Studies of age-related changes in place cell activities traditionally focus on place fields. In the present study, we characterized the short-episodic spatial tunings (1-min bins) of hippocampal CA1 place cells of freely moving mice in a familiar cylinder arena, and compared these functions in young and old mice. Spatial tuning was expressed by spatial selectivity, which we found fluctuated across a 16-min recording session in both young and old mice. High spatial selectivity, which is mainly due to the low firing of a place cell out of the place field in young mice, was significantly higher in old mice. The high firing rate out of the place field was the main factor contributing to significantly lower spatial selectivity in old mice. In addition, young mice showed a broad peak in the spatial selectivity between 4 and 10 min. In contrast old mice showed no peak in the spatial selectivity during this time period. The stability of place fields after a 24-h interval was also lower in old mice than in young mice. The low spatial tuning and unstable place fields suggest that a hippocampal-based spatial representation was impaired in the old mice. Furthermore, we speculate that the age-related impairment in hippocampal inhibition system may be involved in the impaired spatial representation of hippocampal CA1 place cells in old mice. Electronic Publication     

淋巴结血管内T细胞淋巴瘤1例报道及文献复习

目的　探讨血管内淋巴瘤 (IVL)的临床病理特征。方法　对 1例腹股沟淋巴结IVL临床、病理组织学及免疫表型进行观察分析并复习文献。结果　男性 31岁 ,不明原因高热伴消瘦 5 0天 ,右腹股沟直径 1cm淋巴结 1枚 ,B超示肝脏轻度增大 ,血LDH明显升高伴ESR及转氨酶轻度升高 ,外周血WBC 3 3× 10 7/L ,骨髓像、多种病原及各肿瘤相关抗原检测均无异常。病理活检 :腹股沟淋巴结大部分破坏 ,代之以大量扩张的中小血管 ,腔内充满大量异型淋巴样细胞 ,局部伴管壁、管周浸润并累及结外脂肪组织。瘤细胞免疫表型CD4 5、CD4 5RO、CD3阳性 ,CK、CD6 8、CD79α、CD2 0均阴性 ,血管壁及内皮细胞CD31、CD34阳性。行CHOP化疗后症状缓解 ,现仍在随访中。结论　IVL是一罕见的非霍奇金淋巴瘤 ,好发于中枢神经系统及皮肤 ,其他部位少见 ,绝大数为B细胞型 ,T型罕见 ,以浅表淋巴结活检确诊者尚无报道。临床表现有一定提示性 ,确诊靠组织病理学检查 ,部分病例对化疗敏感 ,但多数病例预后差