偏头痛与卵圆孔未闭的研究进展

偏头痛是临床常见的慢性致残性的神经系统疾病,超过半数的患者会因为偏头痛的发作而影响正常生活。近年来,大量研究表明偏头痛与卵圆孔未闭之间存在着一定的联系,但因为卵圆孔未闭发病率较高且引发偏头痛发作的病理机制不明,两者之间的因果关系尚存争议,经皮卵圆孔封堵术是否为治疗卵圆孔未闭合并偏头痛的有效治疗手段亦成为研究热点。该文将围绕卵圆孔未闭与偏头痛的相关性、两者间可能存在的发病机制以及封堵术治疗偏头痛的疗效展开综述。     

门静脉的体表定位及其临床意义

目的：为超声波检查门静脉或经皮经肝门静脉穿刺提供解剖学基础。方法：在４０例成人尸体标本上观测了门静脉的行程及其分叉位置的体表投影。结果：门静脉肝外段与身体的垂线呈约４０°角；门静脉分叉位置在经右半胸宽中点的垂线与右锁骨中线上肝高中点的水平线的交点附近；门静脉右支分为前、后支的位置在剑突尖平面下方约２ｃｍ，右锁骨中线上肝高的中点附近；门静脉左支分出第１外侧支的位置在剑突尖稍下方的右侧约２ｃｍ。结论：在右腋中线剑突尖平面下方约２ｃｍ经皮经肝穿刺至锁骨中线，导管即可进入门静脉右支内     

A multiple-pathway model for the diffusion of drugs in skin

A mathematical model for the diffusion of drugs in skin is presented.The penetration of the drug by both transcellular and intercellularpathways, as well as its interchange between these pathways,is considered. A pharmacologically motivated asymptotic limitis identified and analysed to obtain, in particular, an analyticalexpression for the flux of drug to the blood at steady state.Relevant model data is discussed, and some numerical resultsare also presented.     

Indian child with novel variant in OFD1 gene

Orofaciodigital syndrome (OFD) can have variable phenotype and presents with oral anomalies, facial dysmorphism, and digital malformations like syndactyly, and polydactyly. Other presentations also include renal and cardiac defects, and central nervous system anomalies like hydrocephalus and cerebellar abnormalities. OFD1 is a X‐linked dominant form of the syndrome presenting in females with mutations in CXorf5 or OFD1 gene. We describe a young child with sparse hairs, milia over face and absence of corpus callosum. Next generation sequencing showed frameshift pathogenic variant in the exon 13 of the OFD1 gene, consistent with diagnosis of OFD1.     

老年冠心病慢性闭塞病变的介入治疗探讨

目的探讨老年冠心病患者采用经皮冠状动脉介入(PCI)治疗的中短期疗效。方法对102例住院老年患者采用股动脉穿刺后,行球囊扩张,造影显示扩张满意后植入合适支架。术后随访6-32个月。结果102例患者术后临床症状均完全或基本完全缓解。本组患者有19例多支病变患者至少有一支慢性完全闭塞血管经努力而未能开通,无法植入支架。102例患者通过随访6-32个月,其中32例患者接受了冠脉造影复查,有17例患者分别于术后6个月至16个月又出现胸痛、胸闷症状。超声心动图检查射血分数(EF),心功能术后较术前明显改善,P<0.05。结论对冠状动脉慢性完全闭塞的老年患者,无论核素或超声检查是否存在存活心肌,均应尽量进行闭塞病变的介入治疗,以期改善患者的远期预后。     

Retroviral gene therapy of collagen-induced arthritis by local delivery of IL-4

Rheumatoid arthritis (RA) is an autoimmune arthritis, for which treatment options remain limited. This study investigated the potential role of adoptive cellular gene therapy as a novel means for treating the RA animal model collagen-induced arthritis (CIA). Adoptive transfer of antigen-specific T-cell hybridomas retrovirally transduced to express IL-4 1 day before booster immunization significantly reduced the number of inflamed joints. Cell transfer after clinical onset of disease had no therapeutic effect. Bioluminescence imaging showed that the hybridomas migrated to the inflamed joints, thus delivering the regulatory protein locally at the site of inflammation. The homing was, at least in part, due to chemotaxis in response to proinflammatory chemokines that are expressed in inflamed joints. There were no significant changes in the cytokine milieu of the draining lymph nodes, nor in the systemic levels of anti-collagen antibodies in treated mice. We conclude that the beneficial clinical effects observed in our model were most likely based on the local action(s) of IL-4 in the inflamed joints and that the local delivery (and effects) of regulatory cytokines, like IL-4, constitutes a novel and effective method of preventing organ-specific autoimmune disease and of minimizing systemic adverse effects.     

经皮血管腔内成形术在布-加综合征中的应用

我们自1991年11月～1996年12月为32例布-加综合征患进行经皮血管腔内成形术治疗，其中膜型阻塞或狭窄21例，采用大球囊一次性扩张；段型11例，采用内支架植入术。其中28例随访2～60个月，疗效满意；管腔通畅，无严重并发症，无死亡。我们认为该技术安全，简单，对布-加氏综合征治疗有效，尤适合于肝段下腔静脉膜型阻塞的患。     

经皮腔内室间隔心肌消融术对心电指标的影响

目的研究肥厚梗阻型心肌病患者经皮腔内室间隔心肌消融术对心电指标的影响。方法对50例肥厚梗阻型心肌病患者行经皮腔内室间隔心肌消融术,记录术前、术中和术后出现的心律失常类型,配对分析术前、术后心电指标的变化。结果术后与术前相比,QRS时限[(122.0±24.0)ms对(97.3±15.5)ms,P=0.000]明显延长,QTc[(469.3±32.2)ms对(434.3±41.5)ms,P=0.004]、PR间期[(169±26)ms对(162±24)ms,P=0.044]稍延长。术中心律失常发生率分别为:右束支传导阻滞70%(35/50),左束支传导阻滞8%(4/50),一过性AVB38%(19/50),频发室性早搏24%(12/50),短阵室性心动过速24%(12/50);未发生持续性室性心动过速和室颤。术后心律失常发生率分别为:右束支传导阻滞56%(28/50),左束支传导阻滞8%(4/50),交界区性心动过速4%(2/50),频发室性早搏16%(8/50),短阵室性心动过速8%(4/50)。无永久性起搏器植入及死亡病例。结论经皮腔内室间隔心肌消融术致心律失常的发生率高,右束支传导阻滞最为常见。严格选择适应证后谨慎地行PTSMA术是安全、可行的。     

Generation and expression of a Hoxa11eGFP targeted allele in mice

Hox genes are crucial for body axis specification during embryonic development. Hoxa11 plays a role in anteroposterior patterning of the axial skeleton, development of the urogenital tract of both sexes, and proximodistal patterning of the limbs. Hoxa11 expression is also observed in the neural tube. Herein, we report the generation of a Hoxa11eGFP targeted knock‐in allele in mice in which eGFP replaces the first coding exon of Hoxa11 as an in‐frame fusion. This allele closely recapitulates the reported mRNA expression patterns for Hoxa11. Hoxa11eGFP can be visualized in the tail, neural tube, limbs, kidneys, and reproductive tract of both sexes. Additionally, homozygous mutants recapitulate reported phenotypes for Hoxa11 loss of function mice, exhibiting loss of fertility in both males and females. This targeted mouse line will prove useful as a vital marker for Hoxa11 protein localization during control (heterozygous) or mutant organogenesis. Developmental Dynamics 237:3410–3416, 2008. © 2008 Wiley‐Liss, Inc.     

Dipeptidyl peptidase 9 sets a threshold for CARD8 inflammasome formation by sequestering its active C-terminal fragment

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