广东地区散发克罗恩病患者β防御素2启动子区基因突变检测

目的:对广东地区散发克罗恩病患者β防御素2启动子区基因突变进行筛查,探讨该基因在克罗恩病发病中的作用。方法:克罗恩病组为2002-01/2006-10于南方医院消化科确诊的克罗恩病患者45例,对照组为门诊健康志愿者50例。签定知情同意书后分别取静脉血5mL,提取基因组DNA,并根据设计好的引物序列及PCR反应条件进行目的片段的扩增,阴性对照使用蒸馏水代替DNA。扩增成功的目的基因片段用DNA纯化试剂盒进行纯化,并由上海英俊公司完成测序工作。利用DNAMAN软件将患者测序结果与正常对照结果进行比对,并与基因库数据对照(http://www.ncbi.nlm.nih.gov/BLAST/),SPSS13.0进行统计学分析。并根据结果分析其与克罗恩病患者病变特点的相关性。结果:①纳入的45例克罗恩病患者与50例健康志愿者在性别和年龄上无统计学意义,并全部进入实验分析。②45例克罗恩病患者中有4例在β防御素2启动子区第-233(G→C)位发现基因突变,密码子由AGG变成AGC,编码氨基酸由精氨酸变成丝氨酸,而50例对照组未发现此改变,二者比较具有统计学意义(χ2=4.34,P<0.05)。③4例突变的患者病变均位于小肠(χ2=10.81,P<0.01)且病情较重。结论:在克罗恩患者中存在着β防御素2启动子区基因突变携带者,与患者发病年龄、病变部位、病变程度明显相关,有必要对其功能进行进一步探讨。     

Peripheral neuropathy in systemic lupus erythematosus with epineural vasculitis and antiphospholipid antibodies

Neurological manifestations of systemic lupus erythematosus are frequent and polymorphic. Their frequency varies according to authors (24-75p.cent). Central nervous system complications predominate; peripheral features are rare, classically symmetrical polyneuropathy, multiple mononeuropathies or cranial nerve involvement. We report a case of a 48-year-old woman presenting a histologically documented sensitivo-motor polyneuropathy with severe motor involvement complicating lupus associated with antiphospholipides antibodies. Outcome was good after cyclophosphamid pulse. We discuss the frequency of peripheral involvement in systemic lupus erythematosus, pathogenic mechanisms, therapeutic possibilities and outcome of this complication.     

Electrophysiological aspects of intermediate syndrome in organophosphate poisonings

Acute organophosphate poisoning, whether accidental or suicidal, is frequent in developing countries and produces significant morbidity and mortality. Organophosphates inhibit cholinesterase activity at the neuromuscular junction and cause extensive muscle paralysis, particularly for respiratory function. Poisonings evolve in three stages: cholinesterase crisis, intermediate syndrome and delayed neuropathy. Electrophysiological aspects have been poorly studied. We report the case of a 25-year-old woman admitted to intensive care unit with muscarinic signs and respiratory failure after attempted suicidal organophosphate poisoning. Cholinesterase activity was low and the electrophysiological study disclosed the characteristic aspect of intermediate syndrome. The patient died due to septic complications. This syndrome is exceptional with a poorly understood pathophysiology. The electrophysiological study is essential for diagnosis.     

Manic-depressive psychosis as prevalent manifestation of multiple sclerosis

INTRODUCTION: Manic-depressive psychosis (MDP) and multiple sclerosis (MS) coexistence is unusual but well-proven. OBSERVATIONS: We report two cases observed in two women aged 30 and 31, who were followed up for neurological episodes associated with concomitant or deferred manic or depressive fits. Brain magnetic resonance imaging revealed multiple zones of high intensity signals in the white matter. Biological balance was normal. The diagnosis of multiple sclerosis (MS) was established. Given to treat acute episodes, high-dose corticosteroids enabled regression of the psychological fits. Similarly, long-term treatment in one patient enabled significant regression of fits, which became less frequent and less severe. DISCUSSION/CONCLUSION: The MDP-MS association may be due to local MS-related brain damage or to common genetic susceptibility. The positive effect of corticosteroids against psychological fits is another finding favouring an organic cause of these disorders.     

用二维核磁共振技术研究野菊花三醇的结构

从野菊花(Chrysanthemum indicum L.)亲脂性极性较大的部分,分离得到一个新的倍半萜成分,命名为野菊花三醇。通过¹H-¹H COSY,¹H-¹³C COSY及远程¹H-¹³C COSY二维核磁共振谱研究,确定其属于(牛龙)牛儿烷衍生物,并确定其结构和相对立体构型。