A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease,seizures and cotton wool plaques,but not spastic paraparesis

Over 100 mutations in the presenilin‐1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Aβ was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family.     

彩色多普勒超声在Graves''''病诊断中的作用

目的:探讨彩色多普勒超声在Graves’病(又称弥漫性甲状腺肿)诊断中的作用。方法:用能量多普勒超声观察40例Graves’病患者及40例正常对照组双侧甲状腺组织的血液供应及分布情况;用脉冲多普勒测量颈总动脉的收缩期峰值流速(VPS),甲状腺上动脉的收缩期峰值流速(VPS)及阻力指数(RI),测量甲状腺上动脉的内径。结果:Graves’病组甲状腺实质内的血供极为丰富,血流分级以Ⅲ级为主,呈“火海征”,Graves’病组与正常对照组相比有显著性差异,P<0.005。Graves’病组颈总动脉的收缩期峰值流速为(162.1±31.5)cm/s,正常对照组颈总动脉的收缩期峰值流速为(98.2±20.9)cm/s,Graves’病组甲状腺上动脉的收缩期峰值流速(108.7±35.6)cm/s,正常对照组甲状腺上动脉的收缩期峰值流速(42.1±15.1)cm/s,以上各参数Graves’病组甲状腺上动脉的阻力指数为0.55±0.11,正常对照组甲状腺上动脉的阻力指数为0.73±0.19。Graves’病组与正常对照组相比有显著性差异P<0.01。Graves’病组甲状腺上动脉的内径为3.34±1.16mm,正常对照组甲状腺上动脉的内径为1.62±1.24mm。Graves’病组与正常对照组相比有显著性差异P<0.01。结论:彩色多普勒超声在Graves’病诊断中有重要的作用。     

Hemichorea associated with polycythaemia vera

Abstract Chorea is a rare complication of polycythaemia vera. Polycythaemic chorea occurs predominantly in females and usually in generalised form. We present a 66-year-old woman with acute onset hemichorea-ballism with no vascular pathology in the basal ganglia region. A clear relationship was observed between the onset of chorea and worsening of haematological parameters in the patient. After repeated phlebotomies the patient's clinical status was improved. Polycythaemic chorea must be considered, especially in the elderly, as early diagnosis leads to effective treatment and prevention of complications.     

三磷酸腺苷结合盒运转体A1与颈动脉粥样硬化斑块的关系

目的 探讨三磷酸腺苷结合盒运转体A1(ATP binding cassette transporter A1,ABCA1)在人颈动脉粥样硬化斑块中的表达变化及作用机制.方法 收集24例人颈动脉粥样硬化斑块标本和10例肠系膜动脉标本(对照组),采用RT-PCR测定ABCA1 mRNA和视黄酸X受体α(RXRα)mRNA表达水平,并采用Western Blot检测ABCA1及RXRα的蛋白表达水平.24例人颈动脉粥样硬化斑块标本按病理分级,比较病理组织为Ⅲ级和Ⅰ级动脉粥样硬化组织间ABCA1 mRNA、RXRαmRNA表达水平及蛋白表达水平.结果 颈动脉粥样硬化斑块组的ABCA1 mRNA(0.79±0.04)和RXRα mRNA(0.73±0.04)表达与对照组相比上调,差异有统计学意义(P＜0.05);ABCA1 mRNA与RXRα mRNA增加水平相关(P＜0.05);颈动脉粥样硬化斑块的ABCA1蛋白表达(0.22±0.03)下调水平与对照组(0.53±0.03)相比差异有统计学意义(P＜0.05);Ⅲ级和Ⅰ级动脉硬化斑块ABCA1mRNA、RXRα mRNA及蛋白表达水平差异有统计学意义(P＜0.05).结论 ABCA1及RXRα蛋白表达水平下调可能是进展性动脉粥样硬化损害的关键因素.     

Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.

Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.     

Dentistry, neurology and nephrology--what is the connection?

Case report A 28-year-old female patient was admitted because of painlessmacroscopic haematuria. Past history included severe mentalretardation and nystagmus. At age 17, a computed tomography(CT) scan of the brain showed an absent cerebellar vermis andcerebellar hypoplasia. There was no     

IS THERE A SPECIFIC LINKAGE BETWEEN OBSTRUCTIVE SLEEP APNEA SYNDROME AND GASTROESOPHAGEAL REFLUX DISEASE?

Obstructive sleep apnea syndrome (OSAS) is a common condition characterized by repetitive sleep‐induced collapse of the upper airways. It is associated with increased risk for hypertension, ischemic heart disease, cerebral stroke, and traffic accidents. In contrast, gastroesophageal reflux disease (GERD) is a very common disorder defined as various symptoms or esophageal mucosal damage generated by the abnormal reflux of gastric contents into the esophagus. Patients with OSAS have been reported to have a high prevalence of gastroesophageal reflux (GER) symptoms. The increase of transdiaphragmatic pressure in parallel with the large negative intrathoracic pressure produced during apnea events may directly lead to GER. In addition, some studies have demonstrated improvement in GERD with the application of continuous positive airway pressure, most consistently effective treatment for OSAS. However, GER dose not occur with every apnea. Moreover, the common conditions observed in patients with OSAS, including obesity or alcohol ingestion, are also predisposing factors for GER. A more recent investigation in over 1000 subjects failed to show a causal link between both diseases. Thus, the potential relationship between OSAS and GERD remains controversial. Inconsistencies in definitions of both diseases or sampling biases may contribute to the confusing results.     

阿尔茨海默病患者脑白质损害与认知功能的关系

目的用磁共振扩散张量成像(DTI)研究阿尔茨海默病(AD)患者脑白质损害的特点及其与认知功能改变的相关性。方法对16例AD患者和12名年龄及性别相当的健康老年人行DTI、T1液体衰减反转恢复序列(FLAIR)及T2-FLAIR检查,测量胼胝体膝部和压部、内囊前肢和后肢、额颞顶枕叶白质的部分各向异性分数值(FA)和平均弥散度(MD),分析FA、MD值与简易精神状态量表(MMSE)评分之间的相关关系。结果AD患者胼胝体压部、额叶、顶叶、颞叶FA值分别为0.602±0.043、0.270±0.034、0.294±0.043、0.302±0.032,与健康老人组相比显著下降(P<0.05),且与MMSE评分呈正相关关系,而内囊前后肢、枕叶、胼胝体膝部的FA值则无明显变化(P>0.05);胼胝体压部、顶叶白质的MD值分别为(0.918±0.029)、(0.826±0.015)×10-9m2/s,与健康老人组相比显著升高(P<0.01),且与MMSE评分呈负相关,而内囊前后肢、额叶、颞叶、枕叶和胼胝体膝部的MD值则无明显变化(P>0.05)。结论AD患者表现为脑白质的选择性损害,且损害程度与认知功能密切相关;这种选择性损害反映了AD病理机制中皮质-皮质及皮质-皮质下联系的丢失;DTI技术可以用来监测疾病的进展情况及评价AD治疗药物的临床疗效。     

Risks of androgen therapy

Elderly men with clinical and laboratory evidence of androgen deficiency are eligible for testosterone treatment.

With proper monitoring this is acceptably safe.

In the first year of testosterone treatment there should be a digital rectal examination of the prostate and measurement of prostate specific antigen every three months, thereafter yearly.

The rate of increase of prostate specific antigen (PSA) levels is more significant than its absolute values.

Levels of haemoglobin and the haematocrit should be monitored.     

树枝状静脉移植在手部创伤中的应用

目的探讨手掌严重碾挫伤应用血管移植手术方法的选择。方法对12例手掌碾挫伤伴血管损伤的患者，采用树枝状浅表静脉倒转后多级移植修复缺损的手掌动脉，同时对缺损皮肤一期行植皮或皮瓣修复。结果术后12例创面全部Ⅰ期愈合，手指血循环好。术后随访3～22个月，手功能评定： 优5例，良4例，可2例，差1例，优良率为75％。手掌恢复了良好的外形和功能，能完成手指的捏、握、对掌和对指功能。结论对严重的手掌毁损伤，利用树枝状静脉移植修复缺损的血管，能获得较好的手功能和外形。