Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling

Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic counseling for SIDS can be difficult as recurrence risks vary depending on the age at death and the number of deaths which have occurred in the family. Biochemical disorders may account for up to 5% of SIDS. Of the metabolic disorders known to be involved in SIDS, the most commonly found is medium-chain acyl CoA dehydrogenase deficiency (MCAD). MCAD is an autosomal recessive disorder of fatty acid oxidation which accounts for up to 1% of SIDS. For some families, the addition of a postmortem biochemical investigation can identify an unsuspected metabolic disorder as the cause of death. Once the diagnosis is established, accurate genetic counseling can then be provided. Metabolic testing of the surviving siblings of victims of sudden death, and the subsequent identification of those due to MCAD can prevent the tragedy of recurrent SIDS in some families. In addition, screening the survivors of an acute life threatening event (ALTE) may also prevent a recurrence.     

对人眼色觉异常的定量测量研究

依据Ｒａｙｌｅｉｇｈ颜色匹配方法研制人眼颜色视觉定量测量实验装置,并对２０名色觉正常和３０名色觉异常大学生的颜色视觉进行测量。结果表明,色觉异常被试在Ｒａｙｌｅｉｇｈ匹配中点和匹配范围测量值上均与色觉正常被试者存在明显的差异。     

The ‘should’ in conceptual engineering

Several philosophers have inquired into the metaphysical limits of conceptual engineering: ‘Can we engineer? And if so, to what extent?’. This paper is not concerned with answering these questions. It does concern itself, however, with the limits of conceptual engineering, albeit in a largely unexplored sense: it cares about the normative, rather than about the metaphysical limits thereof. I first defend an optimistic claim: I argue that the ameliorative project has, so far, been too modest; there is little value theoretic reason to restrict the project to remedying deficient representational devices, rather than go on a more ambitious quest: conceptual improvement. That being said, I also identify a limitation to the optimistic claim: I show that the ‘should’ in ameliorative projects suffers from a ‘wrong-kind-of-reasons’ problem. Last but not least, I sketch a proposal of normative constraining meant to address both the above results. The proposal gives primacy to epistemic constraints: accordingly, a concept should be ameliorated only insofar as this does not translate into epistemic loss.     

AMAs及其靶抗原在原发性胆汁性肝硬化发病中的作用

原发性胆汁性肝硬化（PBC）是一种以慢性进行性胆汁淤积为特点的自身免疫性肝病,血清中抗线粒体抗体（AMAs）,尤其AMA-M2升高是该病的特异性表现.AMAs在PBC发病过程中的作用是研究重点之一.丙酮酸脱氢酶复合物（PDC）的E2亚单位（PDC-E2）是AMAs的主要抗原.诱发AMAs靶抗原暴露和打破免疫耐受的主要诱因是感染及化学因素.后者或与靶抗原交叉反应,或通过对靶抗原的化学修饰,或是使凋亡后抗原的清除发生障碍,从而促进AMAs的产生.针对PDC-E2的细胞免疫主要参与PBC的发病.AMAs在PBC发病中的作用存在争议,更多研究认为其不参与PBC的发病.     

自身免疫性胰腺炎的诊治进展

自身免疫性胰腺炎（AIP）是一种特殊类型的慢性胰腺炎,以胰腺肿大及胰管不规则狭窄为特征.AIP分两个亚型：Ⅰ型AIP好发于亚洲老年人,为淋巴浆细胞硬化性胰腺炎;Ⅱ型AIP多见于西方人,为导管中心型胰腺炎.AIP缺乏特异性血清标志物,诊断主要依赖于其特征性改变.依据AIP诊断标准国际共识,AIP的诊断包括影像学、血清学、胰腺外器官受累、组织病理学和诊断性激素治疗5个方面.糖皮质激素是AIP的首选治疗方法,但复发率高,免疫调节剂对维持AIP的持续缓解具有一定作用.AIP总体预后良好,胰管结石和癌变是其潜在的并发症,但发生率极低.     

Zuckerkandl结节在甲状腺手术中对上甲状旁腺的定位与保护

探讨Zuckerkandl结节（ZT）在甲状腺手术中对上甲状旁腺的定位与保护作用.对我院2011年10月至2013年1月在我院行甲状腺手术患者351例进行回顾分析,结果显示,ZT在左侧叶甲状腺的发生率为89.0％（268/301）,右侧叶中的发生率为87.3％（254/291）,共计5例患者出现术后甲状旁腺功能一过性下降,未有永久性甲状旁腺功能损失患者出现.ZT为甲状腺手术中探查上甲状旁腺提供了新的途径与解剖标志,值得引起甲状腺外科医生的关注.     

CXCR4和CXCR7在甲状腺癌中的表达及病理意义

研究甲状腺癌组织中趋化因子4受体（CXCR4）和趋化因子7受体（CXCR7）的表达情况及临床病理意义。应用免疫组织化学PV-6000法及Westernblot法检测CXCR4与CXCR7在甲状腺癌中的表达。二者在甲状腺癌与甲状腺良性疾病组织的差异均具有统计学意义（P〈0．05）,在甲状腺癌中表达仅与淋巴结转移有关（P〈0．05）,CXCR4与CXCR7之间呈正相关。Westernblot结果提示二者在甲状腺癌中的表达率高于癌旁及甲状腺腺瘤。CXCR4和CXCR7的表达水平与淋巴结转移相关,可作为甲状腺癌预后的判断指标。     

LKB1蛋白在食管鳞癌组织中的表达及意义

为了探讨肝激酶B1（LKB1）蛋白在食管鳞癌组织中的表达水平及其与食管鳞癌临床特征及生存期的关系,应用免疫组化方法检测120例食管鳞癌患者组织中LKB1蛋白表达情况并对诸多临床特征进行相关性分析研究,发现LKB1蛋白在食管癌旁正常组织的阳性表达率高于癌组织;LKB1蛋白表达与患者年龄、性别、肿瘤部位、病变长度及浸润深度无关而与分化程度、淋巴结转移及临床分期（TNM）相关,且LKB1蛋白阴性组预后较阳性组差.可见LKB1视为抑癌基因影响食管鳞癌的预后,可能成为食管鳞癌新型的临床预后指标之一.     

医学影像学见习应用PACS教学法与传统读片教学法的对比研究

将中南大学湘雅医学院2010级临床医学五年制197名学生随机分成两组,在医学影像学见习教学过程中分别应用影像存储及传输系统（PACS）教学法（98人）及传统读片教学法（99人）,学期结束时对两组学生考试成绩进行分析,并对PACS组学生进行问卷调查及结果分析.统计数据显示,PACS组学生读片测验及卷面考试中,病例分析题成绩显著高于传统读片组,问卷调查显示PACS组学生大多数认可该教学方法.因此,应用PACS教学有助于提高学生的临床分析能力及主动学习的能力,是学生欢迎的教学方式.但对医学影像学基本知识的传授,应用PACS法较传统读片法并无明显优势.     

TACE联合RFA序贯DC-CIK治疗小肝癌的研究进展

射频消融术（RFA ）、肝动脉化疗栓塞术（TACE）及 DC-CIK 治疗等非手术方法已成为治疗小肝癌的重要手段。RFA 及 TACE 直接杀伤肿瘤细胞,DC-CIK 治疗明显改善机体免疫功能。 TACE 联合 RFA 术后序贯 DC-CIK 治疗可取长补短,提高治疗的有效性、安全性及患者的远期疗效。本文主要对 DC-CIK 治疗、TACE 、RFA 治疗现状及联合治疗前景做一综述。