Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

Summary  We present the third case of Niemann–Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid-rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann–Pick disease type B; NPB) or a much rarer disorder, variant adult visceral form of Niemann–Pick disease type C (NPC). To verify the histopathological findings, SMPD1, NPC1 and NPC2 genes were analysed. Two novel sequence variants, c.1997G>A (S666N) and c.2882A>G (N961S) were detected in the NPC1 gene. No pathogenic sequence variants were found either in the SMPD1 gene mutated in NPB or in NPC2 gene. The pathogenicity of both NPC1 variants was supported by their location in regions important for the protein function. Both variations were not found in more than 300 control alleles. Identified sequence variations confirm the diagnosis of the extremely rare adult visceral form of Niemann–Pick disease type C, which is otherwise dominated by neurovisceral symptoms. Although only three patients have been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated hepatosplenomegaly with foam cells in adulthood. Electronic supplementary material  Supplementary material is available for this article at     

精神分裂症首次发病患者的磁共振弥散张量显像研究

目的探讨从未用过药的精神分裂症首次发病(以下简称首发)患者的重要白质及部分灰质区的磁共振弥散张量显像(DTI)的特点。方法选取9例首发精神分裂症患者(患者组)及9名年龄、性别、受教育程度与患者组相配对的健康者,应用DTI成像技术检测脑额颞交界处、内囊等白质区和颞中回灰质、中央前回、中央后回等灰质区的各向异性(FA)、表观扩散系数(ADC)及双侧海马体积。结果患者组及对照组组内左右两侧兴趣区FA值及ADC值的差异无统计学意义(P>0.05);患者组与对照组各感兴趣区FA值差异无统计学意义(P>0.05),但患者组颞中回灰质(8.655×10-9)、中央前回(7.816×10-9)、中央后回(7.855×10-9)ADC值高于对照组(分别为7.428×10-9,6.921×10-9,7.013×10-9;P=0.049,0.009,0.005);两组内及组间双侧海马体积比较,差异均无统计学意义(P>0.05)。结论首发精神分裂症患者与健康者DTI参数之间没有明显区别。     

Expression of innate immune complement regulators on brain epithelial cells during human bacterial meningitis

Background  

In meningitis, the cerebrospinal fluid contains high levels of innate immune molecules (e.g. complement) which are essential to ward off the infectious challenge and to promote the infiltration of phagocytes (neutrophils, monocytes). However, epithelial cells of either the ependymal layer, one of the established niche for adult neural stem cells, or of the choroid plexus may be extremely vulnerable to bystander attack by cytotoxic and cytolytic complement components.     

应用庆大霉素溶液与生理盐水行手外伤清创的效果比较

目的 探讨应用庆大霉素溶液与生理盐水对手外伤清创效果的差异。方法 对102例急诊手外伤患者，随机分为庆大霉素组（45例）和生理盐水组（57例）两组，分别由同一名医师进行常规清创，术后口服头孢氨苄胶囊预防感染5d，每3～4d伤口换药，观察伤口情况，于术后12d拆线，对伤口做出评价。结果 伤口愈合情况：庆大霉素组，甲级愈合20例，乙级愈合17例，丙级愈合8例；生理盐水组，甲级愈合24例，乙级愈合20例，雨级愈合13例。感染率：庆大霉素组17．78％，肥皂水组22．81％，平均为20．9％，两组比较差异无统计学意义（x^2=0．39，P〉0．05）。结论 使用庆大霉素溶液对伤口进行冲洗，并不能降低手外伤清创后的感染率。     

足部骨筋膜室综合征早期诊断与治疗

目的:探讨足部骨筋膜室综合征早期诊断与治疗结果。方法:1998年1月-2003年12月收治15例足骨筋膜室综合征患者(均为男性:年龄15～55岁,平均32岁),行足背双切口减压4例,足底内侧减压9例,足内外两侧减压2例。1周后行减张缝合或植皮术。结果:15例随访9～24个月,12例恢复佳,足运动感觉正常;2例有足底感觉减退、足趾麻木;1例遗留前足挛缩、无力,足趾麻木。无爪形趾及功能障碍者。结论:足损伤后,Whiteside法测定组织间隙压力是诊断足骨筋膜室综合征的可靠方法。治疗时足部如有骨折、血肿者,骨筋膜室减张切口,宜选择足底内侧切开效果较好。     

Ureteral carcinoid tumor

Most ureteral tumors are transitional cell neoplasms. Neuroendocrine tumors of the genitourinary tract are extremely rare. To our knowledge, only one ureteral carcinoid tumor has been reported before. We report a second case of ureteral carcinoid tumor found in a 70-year-old female.     

香菇多糖抗炎作用的实验研究

目的:研究香菇多糖的抗炎作用。方法:用二甲苯所致小鼠耳肿胀、鸡蛋清所致小鼠足跖肿胀等急性炎症以及滤纸片诱发小鼠肉芽组织增生所致小鼠慢性炎症模型进行试验。结果:香菇多糖能抑制二甲苯所致的小鼠耳肿、鸡蛋清所致小鼠足跖肿胀;与此同时对滤纸片诱发小鼠肉芽组织增生形成有抑制作用。结论:香菇多糖具有一定抑制急慢性炎症反应作用。其抗炎作用的机制,值得进一步研究。     

降钙素防治骨质疏松模型兔的人工假体无菌性松动的实验研究

[目的]探讨降钙素对已行人工假体植入骨质疏松模型免的假体无菌性松动防治作用的实验研究。[方法]将30只假体植入模型的骨质疏松症兔随机分成实验组和对照组，各15只。实验组给予鲑鱼降钙素治疗（6U／kg，肌注，隔日1次），而对照组给予等量的生理盐水肌注，持续治疗半年。两组均分别于术前、术后4、8、12和24周检测假体周围感应区（ROI）骨密度（BMD）；于术前及术后4、12、24周行血清骨代谢指标检测：骨特异性碱性磷酸酶（BALP）、骨钙素（BGP）、抗酒石酸酸性磷酸酶-5b（TRAP-5b）；所有动物于术后24周处死，分别行假体拔出实验与扭转实验测定和假体周围骨组织形态计量学分析。[结果]术后24周，实验组假体周围局部感兴趣区BMD增加近5％，而对照组假体周围局部感兴趣区BMD下降了6％，两组比较有显著性差异（P〈0．01）；骨代谢指标中，术后24周实验组的BALP、BGP稍有下降，但组内无显著性差异（P〉0．05），而TRAP-5b有明显下降（P〈0．05），这些指标与对照组比较差异显著（P〈0．05或P〈0．01）；生物力学检测显示，实验组的假体拔出实验较对照组提高了约50％，扭转实验提高近1倍，且两组比较差异显著（P〈0．01）；骨组织形态计量学显示，实验组中反映骨吸收的Oc．No／Tb．Pm、ES／BS明显减少；反映骨量和微结构的％Tb．Ar、Tb．N明显增多，而Tb．Sp明显变窄：反映骨形成与骨矿化的OS／BS、MAR、BFR／TV及％L．Pm也均明显增多；这些指标与对照组比较差异显著（P〈0．01或P〈0．05）。[结论]鲑鱼降钙素能明显减少人工假体周围骨量的丢失和抑制骨溶解；并加快假体周围的骨形成，提高骨密度，促进生理性骨矿化；还能改善骨质量，促进骨微结构改变，提高骨的生物力学特性并增加假体四周的支撑力。其对骨质疏松症兔的假体松动有明显的预防和治疗作用。这对临床预防和治疗人工关节的无菌性松动有很好的指导意义。