原发性高血压的遗传异质性研究

用分离分析方法对１６１个原发性高血压患者核心家系进行了遗传异质性分析。结果表明原发性高血压存在遗传异质性，有些家系为常染色体显性遗传，外显不全，外显率为８８．１％；有些家系为散发的。本组家系中，常染色体显性外显不全家系占８２．８％，散发家系占１７．１２％。     

The Clinical Study and HLA Genotyping of 112 Familial Myasthenia Gravis Patients

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Fv Leiden突变与我国汉族人布-加综合征的相关性及其临床意义

目的 研究Ｆｖ Ｌｅｉｄｅｎ突变（ＦｖＬ突变）与我国汉族人散发性布－加综合征（ＢＣＳ）、家族性ＢＣＳ的相关性,以及ＦｖＬ突变在家族性ＢＣＳ发病中的意义。方法 对２５例散发ＢＣＳ、６例家庭性ＢＣＳ（来自Ａ、Ｂ两个家系）及其家系成员（３９人）、３１名健康对照者进行ＦｖＬ突变分析。并对两个ＢＣＳ家系进行病因调查。结果 ２５例我国汉族人散发ＢＣＳ中无１例ＦｖＬ突变阳性。６例家族性ＢＣＳ中,４例ＦｖＬ突变阳     

Parkinson's disease.

Parkinson''s disease is a common disabling disease of old age. The diagnosis of idiopathic Parkinson''s disease is based on clinical signs and has poor sensitivity, with about 25% of patients confidently diagnosed as having the disease actually having other conditions such as multi-system atrophy and other parkinsonism-plus syndromes. Benign essential tremor and arteriosclerotic pseudo-parkinsonism can easily be confused with Parkinson''s disease. The cause of Parkinson''s disease remains unknown. Speculative research highlights the role of oxidative stress and free radical mediated damage to dopaminergic cells. Parkinson''s disease is the one neurodegenerative disorder in which drugs have been demonstrated to be of value. There is now a wide variety of drugs and formulations available, including anticholinergics, amantidine, L-dopa, dopamine agonists including apomorphine, selegiline and soon to be available catechol-O-methyltransferase inhibitors. Disabling side-effects of treatment, fluctuations, dyskinesias and psychiatric problems require strategic use of the drugs available. There is an increasing potential for neurosurgical intervention.     

Concentrations of vitamins A, C and E in elderly patients with Parkinson's disease.

Concentrations of the naturally occurring antioxidant vitamins A, C and E were measured in 27 patients with Parkinson''s disease and 16 age-matched control subjects, from a similarly disabled patient group. There was no significant difference in the serum concentrations of vitamins A and E in the two groups. Vitamin C was significantly higher (P < 0.05) in the Parkinson''s disease group, however, the mean leucocyte vitamin C concentration in the control group was low (101 nmol/10(8) WBCS) compared to established data in healthy young individuals (119-301 nmol/10(8) WBCS). There was no correlation between the severity or duration of Parkinson''s disease and concentrations of vitamins A, C and E. There is therefore no evidence from this study that a deficiency of these antioxidants contributes to the onset or progress of Parkinson''s disease.     

Symptomatic Parkinsonism.

Parkinson''s disease, ''paralysis agitans'', is characterized by a number of abnormalities. A similar clinical picture may be symptomatic of other disturbances: these are briefly described and the differential diagnosis is discussed.     

神经节苷脂治疗老年帕金森病疗效观察

目的 探讨神经节苷脂治疗老年帕金森病患者临床症状的疗效。方法60例帕金森病患者随机分为两组,两组病情(震颤、强直、行走、语言)Webster评分差异无统计学意义(P>0.05)。治疗组每日给予神经节苷脂100ml静脉滴注,对照组予丹参20ml静脉滴注。两组均给予左旋多巴每日300mg,分3~4次服用,共2周。每个患者开始时都作血常规、尿常规、肝功能、肾功能、血糖、血脂检查,用以评价药物的安全。比较两组治疗前后临床症状Webster评分变化。结果 治疗组、对照组各30例,治疗后疗效有显著性差异;两组患者治疗前后临床症状Webster评分变化提示治疗组在改善强直、震颤、姿势、面容、步态、语言、自我照顾等各方面的差异均有显著性;而对照组仅在改善强直、步态方面差异有显著性。结论 神经节苷脂对改善老年帕金森患者临床症状有显著疗效。     

Intestinal permeability and orocaecal transit time in elderly patients with Parkinson's disease.

The aetiology of weight loss in patients with Parkinson''s disease is likely to be multifactorial. We studied 15 patients with Parkinson''s disease and 15 age- and sex-matched controls and looked for evidence of malabsorption due to small bowel bacterial overgrowth or alteration of intestinal permeability. There was a marked increase in orocaecal transit time in the patients with Parkinson''s disease, although lactulose hydrogen breath testing did not show evidence of small bowel bacterial contamination. Intestinal permeability measured by the differential sugar absorption test was also deranged. There was reduced absorption of mannitol in patients with Parkinson''s disease while lactulose absorption was similar in both groups, suggesting decreased non-mediated uptake across the enterocyte brush border membrane in patients with Parkinson''s disease.     

IL-6基因多态性与帕金森病预后的关系

目的 探讨IL-6基因rs1800796多态性与帕金森病预后的关系。方法 收集2017年1月—2019年12月聊城市人民医院就诊的帕金森病患者80例作为帕金森病组;同期收集该院体检的健康志愿者50例作为对照组。检测患者IL-6基因C-572G位点（rs1800796）的多态性,比较两组研究对象基因型频率和等位基因频率的差异,分析IL-6不同基因型帕金森患者经美多巴治疗后的疗效差异。结果 帕金森病组IL-6基因C-572G位点（rs1800796）CC野生型和等位基因C频率低于对照组（均P <0.05）,而GG纯合型和等位基因G频率高于对照组（均P <0.05）。美多芭治疗前、后UPDRS、PDQ-39、MMSE和MoCA评分CC型最低,CG型次之,而GG型最高（P <0.05）。结论 IL-6基因C-572G位点（rs1800796）多态性与帕金森病预后均存在密切的关系,发生鸟嘌呤核苷酸（G）突变患者具有更为严重的病情。     

Osteosarcoma complicating familial Paget's disease.

A most unusual family with aggressive Paget''s disease is reported. Three brothers out of 10 siblings developed the disease at a relatively early age. Two of these brothers developed an osteosarcoma and died. It is emphasized that very little information is available concerning the predisposition to severe polyostotic disease and even sarcomatous change when Paget''s disease begins at a young age or is familial. Possibly the risk of these serious complications is then greater than when the disease is sporadic and begins later in life.     

帕金森病与非帕金森病患者围手术期并发症的对比研究

目的 回顾性分析帕金森与非帕金森患者围手术期并发症的发生情况,为帕金森患者的围手术期管理提供依据。方法 选取2014年1月—2019年3月在贵州医科大学附属医院行手术治疗的82例患者作为实验组,另取同期该院行手术治疗的164例非帕金森患者作为对照组。比较两组患者临床资料、围手术期并发症发生率等。结果 两组临床资料比较,差异无统计学意义（P >0.05）。对照组术后疼痛发生率高于实验组（P <0.05）;而实验组术后肺部感染、泌尿系统感染及谵妄发生率较对照组升高（P <0.05）。两组术后切口感染、胃肠道反应、呼吸功能不全、心律失常及心功能不全等并发症发生率比较,差异无统计学意义（P >0.05）。结论 帕金森病患者围手术期更容易发生肺部感染、泌尿系统感染及术后谵妄,但相较于非帕金森病患者术后疼痛的发生率降低。     

滋肾益髓方联合西药治疗帕金森氏病患者非运动症状的疗效观察

[目的]探讨滋肾益髓方联合西药治疗帕金森氏病患者非运动症状的疗效。[方法]选用证型为髓海不足证的帕金森氏病患为研究对象,进行前瞻性平行对照试验,按治疗组、对照组1∶1共计60例,其中治疗组30例,对照组30例。治疗组采用中西医结合疗法,给予滋肾益髓方药联合西药(标准左旋多巴剂量),对照组维持仅口服西药治疗,观察周期为1个月,停药后随访3个月。在治疗过程中通过帕金森病统一评定量表(UPDRS)及30项非运动症状筛查问卷(NMSQ)等国际公认的评价体系评估患者的临床症状,采用对比分析法评定疗效。[结果]与治疗前对比,治疗组病患治疗后不同时间内的UPDRS总评分值、NMSQ评分值均有明显下降,与治疗前相比具有统计学意义(P<0.05)。[结论]滋肾益髓方联合西药治疗帕金森氏病患非运动症状的疗效确切。     

神经节苷脂辅助盐酸多奈哌齐片对帕金森病认知能力和生活质量的影响分析

选取在我院接受治疗的124例帕金森病患者,按照所用药物方案分为对照组68例和神经节苷脂组56例,在治疗前后应用蒙特利尔认知量表(MOCA)、简易智力状况检查法(MMSE)对患者认知能力进行评价,应用统一帕金森病评定量表(UPDRS)、39项帕金森病调查问卷中文版(PDQ-39)对患者生活质量进行评价,并分析组间药物相关不良反应情况。治疗后,神经节苷脂组患者MMSE评分、MoCA评分分显著高于对照组,UPDRS评分分、PDQ-39评分分显著低于对照组;神经节苷脂组不良反应与对照组比较,P＞0.05。神经节苷脂辅助盐酸多奈哌齐片能够提高帕金森病患者的认知能力和生活质量,对帕金森预后效果有改善作用。     

非运动症状对帕金森病患者生活质量的影响

目的探讨非运动症状对帕金森病患者生活质量的影响。方法对45例帕金森病患者和50例中老年健康人群（对照组）采用帕金森病非运动症状问卷调查、简易智能精神量表、汉密尔顿抑郁量表、汉密尔顿焦虑量表、匹兹堡睡眠指数、阿尔茨海默病评定量表-认知部分、日常生活能力量表评定患者智能和抑郁、焦虑、睡眠、记忆、生活质量状况。结果帕金森病患者在智能、抑郁、焦虑、睡眠、记忆、生活质量方面均低于对照组。患者非运动症状与病程呈正相关,与智能、抑郁、焦虑、睡眠、记忆、生活质量呈负相关,与年龄、性别、发病年龄无相关。结论积极治疗帕金森病患者的非运动症状,加强心理干预是提高其生活质量不可忽视的重要方面。     

Subcutaneous apomorphine infusion in Parkinson's disease: does it have a role?

Apomorphine is a potent dopamine agonist at both D1 and D2 receptors and has been used successfully for treating the ''on/off'' phenomenon in Parkinson''s disease. We report our experience with apomorphine in treating the ''on/off'' phenomenon in L-dopa responsive idiopathic Parkinson''s disease. Thirteen such patients were commenced on apomorphine infusions. Their mean age was 69 (range 53-80) years and the mean duration of the disease was 15 (range 6-28) years. The clinical response to apomorphine was good in four patients, fair in two, unchanged in five and worse in two. Activities of daily living improved in six, were unchanged in five and worse in two. When the response was poor or showed no change, apomorphine was discontinued. In addition, apomorphine was also discontinued in three patients who had had a fair/good response but suffered side effects of hallucinations, delusions and psychosis, lack of cooperation or found the pump inconvenient. Apomorphine was continued in only three patients out of 13.     

潘智敏教授治疗阿尔茨海默病的用药规律挖掘分析

阿尔茨海默病,又称老年性痴呆,是一种中枢神经系统变性疾病,以不可逆的认知功能衰退、日常生活能力减退、精神行为异常为主要特征。潘智敏教授是浙江中医药大学博士生导师,浙江省国医名师,第四、六批全国名老中医专家学术经验继承指导老师、全国首批中国中医科学院中医药传承博士后导师。长期从事老年病的临床、科研、教学工作,对阿尔茨海默病有丰富的临证经验。本文通过中医传承辅助系统平台对潘教授治疗AD的用药规律进行数据挖掘分析。     

中国人家族性特发性基底节钙化病(附一家系报道及文献复习)

目的:分析中国人家族性特发性基底节钙化(Fahr)病的临床特点和发病机制。方法:报道1个家系Fahr病,并复习既往国内文献的14个家系49例资料,探讨其临床和影像学特征。结果:家族性Fahr病为常染色体隐性或显性遗传,临床主要表现为智能减退、锥体外系损害、癫痫发作和精神异常;神经影像学检查显示双侧对称性基底节、齿状核及大脑皮质钙化。结论:家族性Fahr病临床症状多样,诊断主要依赖于阳性家族史和头颅CT/MRI检查;微量元素铁、钙、磷等的代谢在发病机制中起了重要的作用。     

帕金森病全脑比率低频振幅静息态功能磁共振研究

目的利用静息态功能磁共振比率低频振幅的方法探讨帕金森病可能的病理生理机制及异常的脑功能变化。方法选取本院神经内科2015年7月~2016年10月收治的帕金森病患者22例,并选取22例年龄、性别、受教育程度都与其匹配的健康对照者;对帕金森"关"期和帕金森"开"期分别进行静息态功能磁共振扫描,用比率低频振幅算法分析帕金森病患者服药前后脑功能的变化。结果相对于健康对照组,帕金森病"关"期比率低频振幅值升高的脑区位于双侧颞叶、左侧小脑前叶、左侧枕叶、左侧顶叶及双侧楔前叶等脑区,而比率低频振幅值减少的脑区位于双侧小脑后叶、双侧壳核、右侧额中回等脑区。相对于帕金森病"关"期,"开"期时增高的脑区位于左侧枕叶、右侧舌回、左侧小脑前叶、左侧丘脑、左侧运动前回、左侧壳核等脑区,而比率低频振幅值减少的脑区主要位于双侧小脑后叶、左侧额中回、右侧顶下小叶、左侧楔前叶等脑区。PD患者的UP3改善率与PD患者"开-关"期左侧丘脑的f ALFF差值呈显著的正相关。结论利用比率低频振幅这种算法,我们发现帕金森病患者某些局部脑区相对于健康对照发生了明显变化,这些变化最终导致相关运动环路受损,而有些脑区可能在帕金森病发病过程中起到代偿作用。服用美多芭后对基底节环路具有修饰作用。丘脑作为运动环路的一个重要节点,其f ALFF值变化可以作为反映疾病进展程度的一个标志。     

阴虚动风证帕金森病异动症模型大鼠的氧化应激反应及复方地黄方的干预作用

目的 探讨阴虚动风证帕金森病异动症(LID)大鼠氧化应激反应及复方地黄方的干预作用。方法 采用6-羟基多巴胺(6-OHDA)偏侧损毁黑质制备帕金森病大鼠模型,进一步腹腔注射左旋多巴+苄丝肼(50 mg/kg左旋多巴和12.5 mg/kg苄丝肼)制备阴虚动风证帕金森病LID大鼠模型,并随机分为LID组、复方地黄方组,另取正常对照组、假手术组大鼠。每组6只。分别在4周、6周后进行神经行为学检测后,取纹状体,应用比色法分别测定各组大鼠纹状体内SOD、MDA、GSH、GSH-Px的含量。结果 阴虚动风证帕金森病LID模型组大鼠纹状体内SOD、GSH、GSH-Px的含量均明显的减少,MDA的含量呈增加的趋势;而复方地黄方组大鼠纹状体内SOD、GSH、GSH-Px的含量均呈现增加的趋势,且随治疗时间的延长增加趋势更明显,MDA的含量呈现减少的趋势,且随治疗时间的延长减少的趋势更明显。结论 复方地黄方较好地改善阴虚动风证LID大鼠的氧化应激反应,复方地黄方干预LID模型大鼠可能是通过清除自由基,减轻对细胞的损伤从而缓解帕金森病LID的症状。     

MPTP帕金森病动物模型研究进展

用神经毒素1-甲基-4-苯基-1,2,3,6-四氢吡啶(MPTP)制备的动物模型,无论在神经生化和病理组织学特征,还是在运动行为表现方面都酷似人帕金森病(PD),是目前研究PD的理想模型。对MPTP动物模型发病机制等方面的深入研究将有助于PD的防治。