Detection of L1 CAM mutation in a male child with mental retardation

Recent studies have presented evidence for the involvement of L1CAM gene mutations in various X-linked mental retardation syndromes. The neural cell adhesion molecule, L1CAM is a transmembrane protein belonging to the super family of the immunoglobulins that play a key role in embryonic development of the nervous system and is involved in memory and learning. No studies were carried out from India on L1 CAM gene in X-linked mental retardation syndromes. Hence, an investigation was taken up to delineate the role of L1CAM gene in mental retardation. Two families (Family I and Family II) having only two members affected with mental retardation in each family were studied for mutations in L1CAM gene. In family II, the younger sibling showed deletion involving region between the nucleotide 13,773 (intron 25) and 14,158 (intron 27) region. The mutation what we observed in younger sibling of the family II is a novel mutation which was not hitherto reported in the world literature.     

如何提高“四证合一”时代临床专业硕士的培养水平

本文从实际情况出发,对于“四证合一”时代下临床医学专业硕士的培养从三大方面提出建设性意见,既与住院医师规范化培养不起时间上冲突,也不增加学生过多负担;既有利于临床专科实践与理论相结合,也教授学生科研思维和方法,对做好临床的医、教、研工作有一定意义。     

CVP方案治疗难治性特发性血小板减少性紫癜的临床疗效观察

应用国产环孢素联合治疗难治性特发性血小板紫癜(ITP)20例。总有效率85％。该方案治疗难治性ITP疗效好，不良反应轻，安全可靠，值得推广。     

敦煌文书“行散”非“行解”浅说——兼与张侬等先生商榷

本文认为敦煌文书所记道家服石"行散"之法与出土医学竹简所记"行解"意义完全不同,前者指散步行药,后者指发汗解表。     

新蝶呤——冠心病活动的一个新标志

目的　为了研究冠心病发病的可能机制 ,探讨可能诊治策略 .方法　对 4 0例冠脉造影证实的冠心病患者 (2 0例急性冠脉综合征 ,2 0例稳定心绞痛 )和 16例正常人测定了血清新蝶呤水平 ,并与临床分型进行了分析 .结果　发现冠心病患者新蝶呤水平显著高于正常人 (分别为(15 .16± 7.4 4) nmol/ L和 (8.38± 4 .6 9) nmol/ L,P<0 .0 1) .急性冠脉综合征患者新蝶呤水平显著高于稳定心绞痛患者 (分别为 (17.83± 8.38) nmol/ L和 (12 .5 0± 5 .34) nmol/ L,P<0 .0 5 ) ;而稳定心绞痛患者新蝶呤水平又显著高于正常人 (分别为 (12 .5 0± 5 .34) nmol/ L和 (8.38± 4 .6 9) nmol/L,P<0 .0 5 ) .结论　冠心病 ,特别是急性冠脉综合征患者新蝶呤水平显著升高 ,免疫激活可能参与了冠心病的病理生理过程 ,新蝶呤是冠心病活动的一个重要标志     

浅谈中医防治慢性前列腺炎

慢性前列腺炎中医属于＂淋证＂、＂尿浊＂等范畴。其病因主要为湿热下注。中医辨证分为湿热蕴结型、肝气郁滞型、瘀血阻滞型、脾肾阳虚型、肾阴亏虚型。外治法有针刺疗法、灸法、按摩法、坐浴疗法、中药煎汤保留灌肠。慢性前列腺炎应未病先防,中医辨证论治效果良好。     

睡眠呼吸暂停综合征及检测方法

睡眠呼吸暂停综合征 (SleepApneaSyndromes,SAS) ,表现为在睡眠中反复出现暂时性呼吸停止 ,每晚 7h左右睡眠中 ,呼吸暂停可达 30次以上且每次在 10s以上。目前常用多导睡眠仪或呼吸诊断仪通过临床监护进行诊断 ,但是价格昂贵复杂 ,不便推广。本文在详述该征及诊断同时还介绍了一种简便易行的检测SAS的有效方法 ,即利用人在呼吸时鼻腔周围的温度和压力变化 ,通过换能器来获得睡眠中的呼吸信息 ,利用运放构成简单电路 ,用计算器作计数器组成简易呼吸暂停检测装置。     

广东养殖对虾主要病害和特发性综合症调查研究

对全省养殖对虾的主要病害和特发性综合症多次调查研究表明，危害最大的主要病害有班节对虾杆状病毒（MBV）、育苗期的发光细菌病和特发性综合症或原因不明的疾病（红腿综合症、外污着生物症、水疱病和斑点病）     

Cardiac troponin-T and CK-MB (mass) levels in cardiac and non cardiac disease

Serum cardiac troponin T (cTnT) and CKMB (mass) were analysed in three groups of patients. The first group (n=32) were patients with acute coronary syndromes including myocardial infarction. The second group (n=35)were patients with hypertension. The third group (n=24) were patients who had succumbed to non cardiac diseases. In all 3 groups, cardiac troponin T was elevated when compared with controls (p<0.001). However, CKMB elevation was not significant in all groups. CKMB levels correlated well with troponin T levels only when CKMB was greater than 50 ng/ml (r=1.00). Small elevations of troponin T identifies minimal cardiac necrosis and patients can benefit from early invasive therapy.     

人结肠粘膜Mr40KD蛋白的提取、纯化及免疫学特性鉴定

目的 探索非特异性溃疡性结肠炎(UC)血清学诊断方法。方法 采用DE-52离子交换层折及cNBr-Sepharose 4B亲和层析技术从人结肠粘膜组织中提取一种蛋白组分，经10％SDS-PAGE、IEF、CIE及Westem blot技术，对该蛋白分子量、等电点及免疫学等进行鉴定。结果 产物PI为5．8，分子量为40KD，免疫学鉴定发现其主要与UC患者血清起反应。结论 人结肠40KD蛋白可能是UC的一种自身抗原，血清中ACA可以作为UC的一个特异性指标。