Citrin缺陷所致新生儿肝内胆汁淤积症研究进展

Citrin缺陷所致新生儿肝内胆汁淤积症(NICCD)是近年来新发现的一种遗传代谢缺陷病,是由于SLC25A13基因突变引起citrin蛋白合成障碍所致.其临床表现复杂多样,确诊需要依赖基因诊断,目前尚缺少特异性的治疗方法.该文介绍了NICCD的国内外研究进展及发展趋势,以促进国内对NICCD的认识和进一步研究.     

Performance measurement of the microPET focus 120 scanner.

The microPET Focus 120 scanner is a third-generation animal PET scanner dedicated to rodent imaging. Here, we report the results of scanner performance testing. METHODS: A (68)Ge point source was used to measure energy resolution, which was determined for each crystal and averaged. Spatial resolution was measured using a (22)Na point source with a nominal size of 0.25 mm at the system center and various off-center positions. Absolute sensitivity without attenuation was determined by extrapolating the data measured using an (18)F line source and multiple layers of absorbers. Scatter fraction and counting rate performance were measured using 2 different cylindric phantoms simulating rat and mouse bodies. Sensitivity, scatter fraction, and noise equivalent counting rate (NECR) experiments were repeated under 4 different conditions (energy window, 250 approximately 750 keV or 350 approximately 650 keV; coincidence window, 6 or 10 ns). A performance phantom with hot-rod inserts of various sizes was scanned, and several animal studies were also performed. RESULTS: Energy resolution at a 511-keV photopeak was 18.3% on average. Radial, tangential, and axial resolution of images reconstructed with the Fourier rebinning (FORE) and filtered backprojection (FBP) algorithms were 1.18 (radial), 1.13 (tangential), and 1.45 mm full width at half maximum (FWHM) (axial) at center and 2.35 (radial), 1.66 (tangential), and 2.00 mm FWHM (axial) at a radial offset of 2 cm. Absolute sensitivities at transaxial and axial centers were 7.0% (250 approximately 750 keV, 10 ns), 6.7% (250 approximately 750 keV, 6 ns), 4.0% (350 approximately 650 keV, 10 ns), and 3.8% (350 approximately 650 keV, 6 ns). Scatter fractions were 15.9% (mouse phantom) and 35.0% (rat phantom) for 250 approximately 750 keV and 6 ns. Peak NECR was 869 kcps at 3,242 kBq/mL (mouse phantom) and 228 kcps at 290 kBq/mL (rat phantom) at 250 approximately 750 keV and 6 ns. Hot-rod inserts of 1.6-mm diameter were clearly identified, and animal studies illustrated the feasibility of this system for studies of whole rodents and mid-sized animal brains. CONCLUSION: The results of this independent field test showed the improved physical characteristics of the F120 scanner over the previous microPET series systems. This system will be useful for imaging studies on small rodents and brains of larger animals.     

丘脑底核电刺激治疗帕金森病术后程控问题分析

目的 总结丘脑底核电刺激治疗帕金森病术后程控经验，提高术后程控水平，改善疗效。方法 对32例丘脑底核电刺激术后的帕金森病患者进行程控，其中单侧植入者6例，双侧26例；年龄40～73岁，在不同刺激器植入中心接受手术，程控时间术后3周至4年之间。程控前均停药10h以上，程控参数调整主要为刺激电极触点、电压、频率、脉宽四项，程控过程中密切观察病员肌张力和震颤等症状改变以及副反应发生情况，作好详细记录，并分别评估患者程控前后药物“关期”和“开期”症状改善情况，部分行UPDRS评分。结果 31例（97％）患者术后症状得到不同程度改善。刺激电极触点选择中，共29例患者采用单极模式，3例因出现持续、无法耐受的副反应采用双极模式。除1位患者使用循环模式外，其他患者均使用持续刺激模式。刺激电压2．0-4．0V，主要集中于2．8～3-3V，是主要的程控调整参数，电压的高低与病人UPDRS运动评分不具有相关性（P〉0．05）。刺激脉宽60～120μs，刺激频率130～185Hz。药物“关”期，患者UPDRS运动评分，在刺激器打开时，平均18．7分；刺激器关闭时平均47．9分。在刺激器打开情况下，药物“开”期患者症状仍然有进一步缓解．主要表现为步态、全身协调动作方面。合并异动患者6例中，3例适当降低刺激电量，1例提高电压后，异动缓解。结论 丘脑底核电刺激术是有效的帕金森病症状控制手段。准确植入刺激电极是术后获得良好症状控制的前提条件，而术后程控是脑深部刺激器置入术后的关键环节．精确的参数调整能够满意控制病人症状。     

直肠癌根治会阴部造口术后二期股薄肌移植肛门成形

目的　回顾性总结32例直肠癌根治会阴部造口术后二期股薄肌移植肛门成形术的治疗效果。方法　采用Williams 5级评分法对重建前后肛门功能进行评价。结果　二期股薄肌移植肛门成形术前,32例患者肛门功能均在4级以上[4级28.4%(9/32),5级71.6%(23/32)],二期股薄肌移植肛门成形术后肛门功能明显好转。结论　二期股薄肌移植肛门成形术是直肠癌根治会阴部造口术后有效的肛门重建手段。     

绝经后阴道出血的相关因素分析

目的探讨绝经后阴道出血的病因及相关因素。方法对129例绝经后阴道出血患者的临床资料进行回顾性分析。结果因良性疾病引起的出血占51.16%,非器质性疾病占25.58%,恶性肿瘤占23.26%,患者出血时年龄大,绝经年限长恶性肿瘤发生率高。结论绝经后阴道出血的主要原因是良性疾病和非器质性病变,但恶性肿瘤仍占一定比例。因此对绝经后阴道出血患者应采取综合的检查手段,明确病因,对因治疗。     

A case of congenital supratentorial tumor: Atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?

Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed. Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation. On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle‐shaped embracing cells were observed. No mesenchymal or epithelial areas were evident. Our impression was that the tumor was an atypical example of AT/RT. Immunohistochemically, almost all the tumor cells were strongly positive for vimentin. However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1. In addition, many tumor cells were positive for neurofilament protein. There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein. Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made. In the present case, application of INI1 immunostaining was very helpful for distinguishing PNET from AT/RT.     

Electrophysiological study on differentiation of rat bone marrow stromal stem cells into neuron-like cells in vitro by edaravone

To explore the electrophysiological proper-ties of differentiation of rat bone marrow-derived stromal stem cells (rBMSCs) to neuron-like cells in vitro by edaravone, a new type of free radical scavenger. Methods: Stromal stem cells were separated from rat bone marrow with Ficoll-Paque reagent and expanded in different culture medium in vitro, rBMSCs were induced by edaravone containing serum-free L-DMEM. Morphologic observation and Western blot analysis including the ex-pression of Nav1.6, Kv1.2, Kv1.3, Cav1.2 were performed, and whole patch-clamp technique was used. Results: Cyton contraction and long processes were shown in differentiated stromal stem cells. Nav1.6, Kv1.2, Kv1.3 and Cav1.2 were expressed in both differentiated and undifferentiated cells. However, the expression of channel proteins in differentiated cells was up-regulated. Consistently, their resting potential and outward currents were also enhanced in the differentiated cells, which was especially significant in the outward rectifier potassium current. Conclusion: In vitro, neuron-like cells derived from rBMSCs, induced by edaravone, possess electrophysiologi-cal properties of neurons.     

血管紧张素(1-7)和依那普利拉对烧伤血清离体灌注大鼠心脏功能的影响

Objective To investigate effects of angiotcnsin ( 1-7 ) [ Ang( 1-7 ) ] and enalaprilat on function of isolated rat heart perfused by burn serum. Methods Eighty SD rats were used to prepare burn serum. Hearts of another 24 SD rats were isolated to reproduce Langendorff perfusion model. The rat hearts were divided into different groups with different perfusion fluids as K-H buffer group, K-H buffer containing 20% burn serum group ( burn serum group) , K-H buffer containing 20% burn serum and 2 μg/mL enala-prilat group (enalaprilat group), and K-H buffer containing 20% burn serum and 1 nmol/mL Ang(1-7) group [ Ang(1-7) group]. The rat hearts were perfused for 30 mins with each of above-mentioned fluids in different groups. Then left ventrieular systolic pressure (LVSP) , left ventricular end diastolic pressure ( LV-EDP) , ± dp/dt max, coronary flow(CF) , level of creatine kinase (CK) and lactate dehydrogenase (LDH) in respective coronary effluent were determined. Results Compared with LVSP ( 11.2 ± 1.0 kPa, 1 kPa = 7.5 mm Hg), +dp/dt max (642±53 kPa/s), -dp/dt max (380±61 kPa/s) and CF level in K-H buffer group, CF, LVSP(5.9±0.8, 8.0±1.1, 8.9±1.3 kPa, respectively), +dp/dt max(275±37, 454±48, 479±63 kPa/s, respectively), - dp/dt max ( 135±35, 219±47, 277±58 kPa/s, respectively ) of burn serum group, those levels in Ang(1-7) group, and enalaprilat group were decreased obviously(P<0.05 or P <0.01 ), but LVEDP, level of CK and LDH in coronary effluent were increased. Compared with those parameters in burn serum group, CF, LVSP, ±dp/dt max of Ang(1-7) group and enalaprilat group were increased obviously(P<0.05 or P<0.01), and LVEDP, level of CK and LDH in coronary effluent were decreased obviously(P<0.01). Conclusions Ang(1-7) and enalaprilat can effectively improve left ventricular function of isolated rat heart perfused by burn serum and mitigate myocardial injury.     

c-Met及HGF在胃癌及其肝转移灶中的表达

目的:探讨胃癌肝细胞生长因子受体(c-Met)及肝细胞生长因子(HGF)表达与胃癌肝转移间的相关性。方法:晚期胃癌标本59例,其中11例同时有取自左肝外叶的肝转移标本,应用免疫组化方法对上述组织石蜡标本进行检测。结果:59例胃癌中,c-Met阳性率55.8%(33/59),HGF阳性率28.8%(17/59);在29例发生了同时或异时性肝转移的胃癌标本中,c-Met表达率为75.9%(22/29),HGF阳性率为37.9%(11/29),其中c-Met表达率在有和无肝转移组间有显著差异(P<0.05);在11例胃癌肝转移灶中,9例c-Met阳性表达率为81.8%,3例HGF阳性表达率为27.3%。结论:胃癌组织c-Met表达可能与胃癌肝转移行为相关。     

Serial in vivo MR tracking of magnetically labeled neural spheres transplanted in chronic EAE mice.

Neural stem cell (NSC) transplantation has been shown to attenuate the severity of experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis (MS). Central to the future success of NSC transplantation in MS is the ability of transplanted cells to migrate from the site of transplantation to relevant foci of disease. Using magnetically labeled mouse neurospheres and human embryonic stem cell (hESC)-derived neurospheres, we applied serial magnetic resonance imaging (MRI) to assess the biodynamics of transplanted cell migration in a chronic mouse EAE model. Magnetic labeling did not affect the in vitro and in vivo characteristics of cells as multipotential precursors. Cell migration occurred along white matter (WM) tracts (especially the corpus callosum (CC), fimbria, and internal capsule), predominantly early in the acute phase of disease, and in an asymmetric manner. The distance of cell migration correlated well with clinical severity of disease and the number of microglia in the WM tracts, supporting the notion that inflammatory signals promote transplanted cell migration. This study shows for the first time that hESC-derived neural precursors also respond to tissue signals in an MS model, similarly to rodent cells. The results are directly relevant for designing and optimizing cell therapies for MS, and achieving a better understanding of in vivo cell dynamics and cell-tissue interactions.