原发性青光眼合并早期垂体腺瘤的临床分析

目的:通过分析青光眼的中心视野、周边视野以及头颅影像学检查结果,诊断早期垂体腺瘤。方法:回顾分析7例原发性青光眼合并早期垂体腺瘤的临床资料。原发性青光眼中,2例为急性闭角型,1例为慢性闭角型,4例为开角型。患者均行中心及周边视野、头颅X射线平片、电子计算机X射线断层扫描(CT)或者核磁共振成像(MRI)检查。结果:除了青光眼性视野改变,所有患者均有颞上象限不同程度的视野缺损,进而做头颅影像学检查,发现了垂体腺瘤。结论:青光眼与垂体腺瘤均可有视野的损害,前者的改变早期位于中心,而后者可以位于周边。建议对青光眼患者的视野检查范围应包括中心及周边,如果周边视野有象限性缺损,须行头颅X射线平片、CT或者MRI检查,以防漏诊、误诊垂体腺瘤。     

着色真菌蟾蜍分离株小鼠致病试验研究

目的：观察着色真菌蟾蜍分离株的致病性。方法：抽样取着色真菌蟾蜍分离株与标准人分离株对照，制成菌悬液，做小鼠腹腔接种，观察接种后小鼠的外观表现，做菌种逆培养和观察内脏病理变化。结果：蟾蜍分离株卡氏枝孢霉、疣状瓶霉、裴氏着色霉和甄氏外瓶霉与病人分离株一样，在接种28天后，均可从小鼠脏器逆培养出接种的菌种，并引起内脏病变，形成结核样肉芽肿，肉芽肿内均可查见棕黄色硬壳小体。而瓶霉和外瓶霉属菌种逆培养结果均阴性。结论：从野生蟾蜍分离出的卡氏枝孢霉、疣状瓶霉，裴氏着色霉和甄氏外瓶霉与病人分离株一样，对小鼠有致病性，故可能是人着色芽生菌病的致病菌。     

外阴扁平疣

患儿女,7 岁. 主诉:外阴扁平丘疹1年并逐渐增多. 现病史:患儿1年前无明显诱因于外阴部出现扁平丘疹,无自觉症状,未予诊治.其后丘疹逐渐增多,遂于2009 年4 月就诊于我院门诊. 既往史:既往体健. 家族史:否认家族成员有类似疾病史. 体格检查:患儿一般情况好,营养中等,发育正常.系统检查未见明显异常. 皮肤科检查:外阴大阴唇处可见散在粟粒大肤色至红色圆形丘疹,顶部扁平,表面无鳞屑,部分融合成斑块(图1).同形反应阴性.双手背及面部未见皮疹.     

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Glycogen-storage disease type II (GSDII; OMIM #232300), an autosomal recessive disorder caused by a deficiency of the glycogen hydrolysis enzyme acid alpha-glucosidase (acid GAA; acid maltase, EC. 3.2.10.20), results in the accumulation of glycogen in the lysosome. We performed a molecular genetic study on 29 patients with infantile-onset glycogen-storage disease type II (GSDII), 6 with juvenile-onset GSDII and one carrier for GSDII. Seventeen different mutations were identified among them; 8 were novel mutations: c.421C > A (p.L141M), c.872T > C (p.L291P), c.893A > C (p.Y298S), c.1375G > A (p.D459N), c.1437G > C (p.K479N), c.1509_1511del (p.A504del), c.1960T > C (p.S654P), and c.2174G > C (p.R725P). One of the mutations identified, c.2238G > C (p.W746C), which was a sequence change of unknown pathogenic significance causing diminished enzyme activity,was found homozygously in a juvenile-onset patient. We also found a juvenile-onset patient with homozygote c.1935C > A mutation which was frequently found in infantile-onset patients. In addition to mutations, we also identified 14 new polymorphisms in the acid alpha-glucosidase gene. The genotype/phenotype correlations indicated that c.2238G > C (p.W746C) is correlated with juvenile- onset GSDII and that c.872T > C (p.L291P) and c.1411_1414del (p.E471fsX5) are correlated with infantile-onset GSDII. Mutational analysis of GAA is useful in genetic counseling and prenatal diagnosis of the disease.     

Systematic review on the efficacy and safety of herbal medicines for Alzheimer's disease

A systematic review was conducted to assess the efficacy and safety of herbal medications (HM), as either monotherapy or adjunct to orthodox medications (cholinesterase inhibitors and nootropic agents, OM) for Alzheimer's disease (AD). Sixteen studies testing different HM were included. Out of the 15 HM monotherapy studies, 13 reported HM to be significantly better than OM or placebo; one reported similar efficacy between HM and OM. Only the HM adjuvant study reported significant efficacy. No major adverse events for HM were reported and HMs were found to reduce the adverse effects arising from OM. Imbalance in ethnicity among participants was observed; gender distribution was unclear. Heterogeneity in diagnostic criteria, interventions and outcome measures hindered comprehensive data analysis. Studies comparing HM with OM suggest that HM can be a safe, effective treatment for AD, either alone or in conjunction with OM. Methodological flaws in the design of the studies, however, limited the extent to which the results could be interpreted. Among various HMs, the safety and tolerability of EGb761 was best established. Further multi-center trials with large sample size, high methodological qualities and standardized HM ingredients are necessary for clinical recommendations on the use of HM in treating AD.     

肾移植后血浆左卡尼汀群含量与肌酐清除率的相关性★

目的：目前临床上常采用血清肌酐清除率作为肾脏功能的检测指标。血浆卡尼汀群的代谢主要由肾脏滤过排除，因此肾脏功能可直接影响血浆卡尼汀群水平。考察同种异体肾移植术后患者血清肌酐清除率与血浆左卡尼汀、乙酰左卡尼汀和丙酰左卡尼汀含量的关系。 方法：①选择2006-09/2007-01于青岛大学医学院附属烟台毓璜顶医院器官移植中心行同种异体肾移植的患者30例。②用高效液相色谱荧光检测方法测定术前及术后10 d，30 d血浆样本中左卡尼汀、乙酰左卡尼汀和丙酰左卡尼汀的含量。③观察肾移植前后血浆左卡尼汀、乙酰左卡尼汀和丙酰左卡尼汀含量的变化，并与血清肌酐清除率作相关性分析。 结果：30例肾移植患者全部进入结果分析。①肾移植后10 d，30 d患者血浆左卡尼汀、乙酰左卡尼汀含量及肌酐清除率均高于术前（P < 0.05~0.01），但血浆丙酰左卡尼汀含量未见明显改变（P > 0.05）。②肾移植术后10 d，30 d患者血浆左卡尼汀、乙酰左卡尼汀含量与肌酐清除率均呈负相关（P < 0.05），丙酰左卡尼汀与肌酐清除率无相关性（P > 0.05）。 结论：肾移植术后血清肌酐清除率与血浆左卡尼汀，乙酰左卡尼汀含量密切相关，与丙酰左卡尼汀没有相关性。     

Activation of extrasynaptic GABA. receptors inhibits cyclothiazide- induced epileptiform activity in hippocampal CA1 neurons

Extrasynaptic GABAA receptors （GABAARs）-mediated tonic inhibition is reported to involve in the patho- genesis of epilepsy. In this study, we used cyclo- thiazide （CTZ）-induced in vitro brain slice seizure model to explore the effect of selective activation of extrasynaptic GABAARS by 4,5,6,7-tetra- hydroisoxazolo[5,4-c] pyridine-3-ol （THIP） on the CTZ-induced epileptiform activity in hippocampal neurons. Perfusion with CTZ dose-dependently induced multiple epileptiform peaks of evoked population spikes （PSs）in CA1 pyramidal neurons, and treatment with THIP （5 μmol/L） significantly reduced the multiple PS peaks induced by CTZ stimulation. Western blot showed that the 6-subunit of the GABAAR, an extrasynaptic specific GABAAR subunit, was also significantly down-regulated in the cell membrane 2 h after CTZ treatment. Our results suggest that the CTZ-induced epileptiform activity in hippocampal CA1 neurons is suppressed by the activation of extrasynaptic GABAARs, and further support the hypothesis that tonic inhibition mediated by extrasynaptic GABAARs plays a prominent role in seizure generation.     

颈动脉支架植入术后管理

颈动脉支架植入术(CAS)临床应用逐年增多,术后可能发生心脑血管事件甚至死亡,术后管理尤为重要.该文通过查阅近年来国内外文献并进行整理、分类、比较和分析,就CAS术后低血压控制目标与治疗管理,术后高血压和脑过度灌注综合征(CHS)处理,抗血小板药物、他汀类药物应用管理作一综述.术后密切监测,个体化维持血流动力学稳定,有...     

髌骨骨折后大髌骨现象形成及预防

目的：观察12例髌骨骨折后髌骨增大患临床表现，探讨大髌骨现象形成原因和预防。方法：观察1992～2001年问，12例骨折后髌骨增大患的骨折固定方式、临床表现和双侧X线片对比情况。结果：骨折后形成大髌骨，原固定方法分别为石膏、钢丝或丝线环扎、张力带或改良张力带固定等。患有膝关节酸痛、股四头肌乏力和伸膝困难等症状。体检和x线发现患侧髌骨较健侧增大，部分X线片显示有髌股关节退变。结论：大髌骨无特异性症状。根据体检和X线片发现患侧髌骨较健侧增大即可诊断大髌骨。不能很好掌握传统固定方式，或传统固定方式本身具有缺陷是产生大髌骨的主要原因。提高手术技巧，选择镍钛聚髌器等适当固定方式可预防大髌骨。