Sitosterol xanthomatosis

BACKGROUND: Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis. OBJECTIVE: To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease. METHODS: We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate. RESULTS: Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment. CONCLUSION: It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.     

MMP‐13 expression in keratocyst odontogenic tumour associated with NBCCS and sporadic keratocysts

Oral Diseases (2010) 16 , 795–800 Objective: To investigate the matrix metalloproteinase (MMP)‐13 expression in associated and non‐nevoid basal cell carcinoma syndrome (NBCCS) Odontogenic Keratocysts (OCKs) in order to contribute to a better understanding of the differences in the growth pattern between them. Materials and methods: Thirty‐nine paraffin‐embedded blocks of OCKs, 26 sporadic OCKs and 11 NBCCS‐associated KCOTs were studied by immunohistochemistry to evaluate MMP‐13 expression both in epithelial and stromal layers. A semi‐quantitative scale was used to evaluate immunostaining. Obtained data were compared between the two groups, using Fischer’s exact test and the chi‐square test. Results: Only 13 of 26 sporadic OCKs showed a positive immunostaining, whilst 11 KCOTs resulted in positive labelling for MMP‐13 expression. Moreover, syndromic cysts displayed a more intense and diffuse MMP‐13 labelling of the stromal tissue. Instead, in non‐syndromic forms, the staining pattern of MMP‐13 in stromal tissue was completely absent. Fisher's exact test showed a statistically significant greater prevalence of KCOTs‐immunolabelled cysts with respect to sporadic OCKs. Conclusions: Results from this study point out that the biological behaviour of these cysts could be related not only to the epithelial layer but also to stromal tissue in that... MMP‐13 overexpression in stromal tissue of NBCCS‐associated KCOTs could clarify the higher aggressiveness of these cysts.     

用于CT仿真的可视化空腔结构快速薄壁体绘制方法

目的：提出了一种可用于CT仿真结肠镜和其他空腔性结构可视化的薄壁快速体绘制方法。 方法：基于图像分割和三维形态学运算,能够去除空腔中积水的影响,并加快体绘制的速度。利用VGLR体绘制工具包,实现高效的内窥体绘制计算。 结果：在一组真实的CT结肠数据中,实现了图像分割、形态学运算及快速实时体绘制,体绘制速度达到原来的3倍。 结论：这一技术能加快空腔结构内窥体绘制的速度,去除肠道内积水的影响,提高可视化效果。     

椎间盘退行性变的影响因子及其基因和组织工程结合基因治疗

目的:从各领域和不同角度探讨椎间盘退行性变的病因及其作用机制,并探索基因治疗及组织工程结合基因治疗对延缓或逆转早、中、晚期椎间盘退行性变的可能性。资料来源:应用计算机检索Pubmed数据库1998-06/2006-01有关椎间盘退行性变影响因子及生物学治疗进展的文章,检索词“intervertebral disc degeneration,nucleus pulposus,interleukin-1 beta,interleukin-6、interleukin-18,potential therapeutic model”,限定文章语言种类为English。同时检索VIP维普、CNKI中国期刊全文数据库2000-06/2006-08期间的相关文章,检索词“椎间盘退行性变、髓核、促炎因子、基因治疗”,限定文章语言种类为中文。资料选择:对资料进行初审,选取符合研究要求的有关文章找全文。纳入标准:①有关椎间盘退行性变影响因子的基础研究及临床研究。②有关基因治疗退行性变椎间盘的相关研究。③有关人工椎间盘移植的研究。排除标准:重复或类似的同一研究、个案报道等。资料提炼:共收集到123篇有关椎间盘退行性变影响因子及生物学治疗进展的文章,57篇符合研究要求(其中35篇为椎间盘退行性变影响因子基础研究方面的文献,22篇涉及基因治疗、人工椎间盘移植方面)。资料综合:①国内对椎间盘退行性变影响因子及治疗的研究:从椎间盘营养供应、细胞凋亡、基质酶活性、生物力学等方面研究与椎间盘退行性变有关的相关因素,如丝氨酸蛋白酶在退行性变椎间盘的终板中活性极高,基质金属蛋白酶3在细胞外基质成分的降解过程中起关键作用,还能通过激活其他非活性基质金属蛋白酶而对软骨基质的降解发挥间接作用。基质金属蛋白酶3表达阳性的细胞比例与MRI检查中的椎间盘退行性变程度有显著相关性,且突出型腰椎间盘中基质金属蛋白酶3表达阳性的细胞比例显著高于未突出型;;突出椎间盘组织可以诱导碱性成纤维细胞生长因子,且与突出类型、病程相关,提示碱性成纤维细胞生长因子在腰椎间盘组织退行性变、自发性吸收中有重要的促进作用等。并探讨相关基因(成骨蛋白1、骨形态发生蛋白7)在延缓或逆转椎间盘退行性变治疗上的可行性。②国外对椎间盘退行性变影响因子及治疗的研究:从以上几方面研究椎间盘退行性变的因素及机制,如胰岛素样生长因子和血小板来源的生长因子均可降低椎间盘细胞的凋亡指数,为该病的防治提供了新的思路;;白细胞介素1使椎间盘纤维环细胞产生的前列腺素E2和磷脂酶A2增加,减少纤维环中总的蛋白多糖含量;;最近研究发现白细胞介素18是强有力的致炎因子之一,在退行性变的关节软骨及椎间盘软骨终板呈一定表达,遂被认为在椎间盘退行性变中发挥重要作用,但少见报道。同时探索用腺相关病毒体外转染人椎间盘细胞,体内转染兔椎间盘细胞,并证实自体同源椎间盘细胞、同源软骨、同种异体的完整椎间盘或活性椎间盘细胞移植可以延缓椎间盘退行性变,又以腺病毒转染SV40基因的方法成功构建了永生化的人髓核细胞株,可作为组织工程椎间盘的种子细胞。③国内外关于椎间盘退行性变影响因子及治疗研究的展望:提供更多的临床样本,探索创新出更多、更细致的思路来综合研究椎间盘退行性变的可能机制和根本治疗方法。结论:椎间盘退行性变的确切机制目前尚不清楚,其生物学治疗仍处于动物实验研究阶段,只有通过大量的临床样本及动物试验,并探求出更加深入细致的研究方法,尤其是最热点及最有前途的组织工程方法,才能为在最终应用于人椎间盘退行性变的治疗上提供切实可靠的治疗手段。     

胎儿和新生儿同种异体免疫性血小板减少症:进展与持续性争议

胎儿和新生儿同种异体免疫性血小板减少症(AIT)是引起胎儿和新生儿严重血小板减少的最常见原因.母亲针对源自父亲的胎儿血小板抗原的IgG抗体,在妊娠早期就可通过胎盘,通常导致胎儿严重血小板减少.由于一些血小板减少症临界值(50、100或150×109/L)的不同,他们的发生率亦各不相同.但在多数未经选择的人群中,AIT影响1/1 000到1/2 000活产数.在新生儿病房,临床确诊的重症AIT很罕见,可能只有1:10 000分娩数.     

胎儿和新生儿同种异体免疫性血小板减少症:进展与持续性争议

胎儿和新生儿同种异体免疫性血小板减少症(AIT)是引起胎儿和新生儿严重血小板减少的最常见原因.母亲针对源自父亲的胎儿血小板抗原的IgG抗体,在妊娠早期就可通过胎盘,通常导致胎儿严重血小板减少.由于一些血小板减少症临界值(50、100或150×109/L)的不同,他们的发生率亦各不相同.但在多数未经选择的人群中,AIT影响1/1 000到1/2 000活产数.在新生儿病房,临床确诊的重症AIT很罕见,可能只有1:10 000分娩数.     

异体肌腱移植重建伸肌腱止点治疗锤状指畸形

目的:观察异体肌腱移植重建伸肌腱止点治疗锤状指畸形的疗效。方法:选择于2003-01/2006-03在东南大学医学院附属徐州医院骨科采用改良伸肌腱止点重建术治疗的锤状指畸形患者15例,均自愿参加观察。开放损伤2例患者于急诊1期予以手术治疗,闭合损伤13例患者在1周内予以手术治疗。①手术方法:臂丛麻醉,于末节指骨基底以远4mm偏背侧的尺桡两边对向钻孔,形成骨隧道,采用修剪合适的异体肌腱穿过骨隧道,在远侧指间关节背侧交叉后分别与伸指肌腱的侧腱束吻合(吻合前选直径1.0mm克氏针将远侧指间关节固定过伸位10°￣15°),石膏托外固定,6周后拔除克氏针及拆除石膏进行末节屈伸功能锻炼。术后定期随访。②功能测评:测量手指最大伸直位掌指关节、近指间关节、远指间关节伸直受限角度的总和及手指屈曲位时指端与掌横纹之间的距离。优:伸指0°,屈指指端过掌横纹;良:伸指受限≤-15°,屈指指端达掌横纹。结果:15例患者全部进入结果分析,无脱落。术后随访2个月￣3年,平均19.5个月。所有患者伤口甲级愈合,无异物排斥反应。按Dargan功能评定标准,优12例(占80%),良2例(占13.3%),优良率达93.3%。1例因远侧指间关节僵硬而屈伸活动功能欠佳。结论:异体肌腱移植伸肌腱止点重建术是治疗锤状指畸形的有效方法。     

肝细胞癌生物标志物的研究进展

原发性肝癌(primaryhepaticcancer,PHC)是世界范围内第8位最常见的恶性肿瘤,在我国肝细胞癌(hepatocellularcarcinoma,HCC)占其91.5%.HCC是肿瘤病因学中的重要类型,肝硬化、病毒性肝炎、化学致癌物及环境因素等所造成的慢性肝脏损害都可诱发HCC.HCC恶性度高,容易复发及转移,预后差,而且早期诊断较困难,延误了最佳治疗时期.HCC的生物标志物对于HCC的早期诊断、监测肿瘤进展、疗效判定、复发和存活率的判定十分重要.因此,寻找有效的HCC生物标志物是医学工作者多年以来的努力方向,并取得了很大的进展.甲胎蛋白(alpha-fetoprotein,AFP)是临床上诊断HCC最常用的指标,其敏感性和特异性分别为60%和90%,AFP-L3、AFU、DCP及anti-p53等也都有各自的优缺点,新近发现SCCA-IgMIC在HCC患者有表达,其敏感性及特异性均较高,可能不久以后会成为HCC早期诊断的重要依据.     

Prevalence of human T-cell leukemia/lymphoma virus (HTLV) type II infection among high-risk individuals: type-specific identification of HTLVs by polymerase chain reaction

The extent of human T-cell leukemia/lymphoma virus type II (HTLV-II) infection and its rate of spread have been difficult to determine owing to the serological cross-reactivity between HTLV-I and HTLV-II. The present study overcame this problem by directly detecting type-specific proviral sequences by means of the polymerase chain reaction (PCR) and liquid hybridization. Screening was performed on a cohort of primarily white intravenous drug abusers (IVDAs), and individuals of other behaviorally defined risk groups from the New York City area. Eleven percent (19 of 169) of the individuals in these high-risk groups were determined by PCR to have HTLV-II proviral infections. One of these patients displayed an exfoliative erythrodermatitis. Thirteen of the 19 subjects were positive in an HTLV-II enzyme-linked immunosorbent assay (ELISA). The remaining six individuals, although negative in the HTLV- II ELISA, were confirmed as HTLV-II positive by analyzing their DNA with a second HTLV-II-specific primer detector system. Four additional individuals were reactive in the HTLV-II ELISA but were PCR-negative for HTLV-II. PCR analysis for HTLV-I revealed that all four were positive for that virus. Thirty-seven percent (seven of 19) of the HTLV- II PCR-positive subjects were also PCR-positive for HTLV-I, and 84% (16 of 19) of the HTLV-II positive individuals were infected with human immunodeficiency virus (HIV-1). Six individuals were triply infected with HTLV-I, HTLV-II, and HIV-1.     

Hemoglobin-spectrin complexes: interference with spectrin tetramer assembly as a mechanism for compartmentalization of band 1 and band 2 complexes

The irreducible complexation of hemoglobin with spectrin is a natural phenomenon of red blood cell aging, positively correlating with increasing cell density and decreasing cell deformability. The current study begins to address the role of these complexes in the disruption of membrane skeletal physiology and structure. The effect of bound hemoglobin on spectrin dimer self-association was investigated in vitro. The extent of conversion of isolated spectrin dimers to tetramers was evaluated as a function of peroxide-induced globin complexation before the conversion incubations. The incremental accumulation of tetramer was observed to decrease with increasing peroxide concentration used in the globin complexation step. The role of oxidized heme in this process was made apparent by the inability of carboxyhemoglobin to inhibit tetramer accumulation. A Western blot analysis of naturally formed globin-spectrin conjugates demonstrated irreducible complexes of globin with both bands 1 and 2. The complexes are tentatively designated "h1" and "h2". This analysis also demonstrated that h1 is completely extractable from cell ghosts, whereas h2 is only 50% extractable. These findings are incorporated into a hypothesis linking globin-spectrin complexation and the consequent inhibition of spectrin dimer self-association to the clustered band 3 senescence antigen (Low et al, Science 227:531, 1985).