Molecular Characterization of Iranian Patients with Possible Familial Hypercholesterolemia     

Farrokhi E  Shayesteh F  Asadi Mobarakeh S  Roghani Dehkordi F  Ghatreh Samani K  Hashemzadeh Chaleshtori M 《Indian journal of clinical biochemistry : IJCB》2011,26(3):244-248

Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B 100 (APOB) genes. Until now, the molecular basis of FH has been demonstrated in detail in many populations, but there is still very limited Molecular data concerning FH in Iran. The aim of this study was to characterize the LDLR and APOB gene mutations in an Iranian population. A total of 30 non-related Iranian possible FH subjects were studied. Diagnosis of FH was based on the Dutch Lipid Clinic Network diagnostic criteria. All samples were initially tested for three common APOB gene mutations including R3500Q, R3500 W and R3531C using PCR-RFLP assay. Subsequently, promoter and coding region of the LDLR gene was screened by PCR-SSCP analysis and positive results were confirmed by DNA sequencing. Four previously reported polymorphisms 1413G > A, 1725C > T, 1773T > C and 2140 + 5G > A were found in ~17% (5/30) of population studied. Moreover, no variation was found in APOB gene. Our data indicated that LDLR and APOB gene mutations have not contribution to possible FH in Iranian population studied here. However, we examined three common APOB mutations and LDLR in only 30 patients, and to determine the role of these genes in developing FH in Iran, more FH samples and populations needed to be investigated for the mutations of the related genes.  相似文献   

Serum total PSA and free PSA in breast tumors     

Dash P  Pati S  Mangaraj M  Sahu PK  Mohapatra PC 《Indian journal of clinical biochemistry : IJCB》2011,26(2):182-186

Now a days measurement of molecular forms of PSA has gained importance in clinical practice. Several studies have demonstrated the production of PSA in female tissues, such as breast. The present piece of work has been undertaken with an objective to estimate the relative proportion of the molecular forms of PSA in serum along with serum testosterone in benign and malignant breast tumor cases and to analyze their association with the severity of the disease process 34 malignant and 26 benign breast disease cases along with 33 healthy controls of same age group were enrolled in this study for evaluation. Serum testosterone was measured by ELISA, whereas serum total PSA (TPSA) and free PSA (FPSA) were estimated by electrochemiluminescence immunoassay. A significant rise of fasting plasma glucose along with prominent dyslipidemia was observed in breast tumor cases. Marked rise in serum testosterone as well as TPSA and FPSA was documented in both benign and malignant breast tumor cases. Serum testosterone revealed a significant positive association with both TPSA and FPSA pointing towards an etiological association between them. However, surgical removal of tumor mass resulted in a marked decline of presurgical value of both TPSA and FPSA with a non-significant fall in serum testosterone revealing tumor tissue as the source of FPSA and TPSA. Thus, estimation of PSA provides prognostic information that may assist in future treatment.  相似文献   

Emergent technologies against the background of everyday life: discursive psychology as a technology assessment tool     

Veen M  Gremmen B  te Molder H  van Woerkum C 《Public understanding of science (Bristol, England)》2011,20(6):810-825

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Are we using Thyroid Function Tests Appropriately?     

Gupta S  Verma M  Gupta AK  Kaur A  Kaur V  Singh K 《Indian journal of clinical biochemistry : IJCB》2011,26(2):178-181

Thyroid function tests are very important for the diagnosis and monitoring of patients with thyroid dysfunction. The guidelines recommend serum thyroid stimulating hormone (TSH) as the single most reliable test to diagnose all common forms of hypothyroidism and hyperthyroidism. The aim of this study was to analyze the ordering pattern for thyroid function tests by physicians and the analysis of results based on the clinical history. The mean age of the patients was 32.5 ± 6.5 years. Majority of samples (87.7% of total) were received from the departments of Medicine and Gynae. Thyroid profiles (47.5%) were ordered more frequently as compared to TSH only (46%). There was no significant difference in the percentage of normal reports for both types of tests. 77.8% of TFT and 76.6% of TSH samples had results within the reference range. The percentage of abnormal results was 13.7% in the patients who were screened for thyroid disorders. There is a need to redefine the case definition for thyroid dysfunction and order the appropriate test in a rational and cost effective manner.  相似文献   

离开地球     

瑞安·索玛【美国】  陈荣生 《科学与文化》2011,(11):31-31

“我不明白,为了一艘愚蠢的飞船,我们为什么要离开地球？”我10岁大的女儿特洛伊抱怨道。在我们把财产装上分配给我们的穿梭机的过程中,她一直都在发牢骚,破坏了所有的喜悦气氛。  相似文献   

通过牙齿听广播？     

高登·托马斯 《科学与文化》2011,(6):36-36

在都市奇谈中,有一种说法是人们有时候能通过牙齿听到广播。虽然这种故事常常被认为是异想天开虚构出来的,但美国牙科协会说,那些年,几乎每个月都有人向他们咨询这个问题,从此类似传闻就接连不断,屡屡出现。  相似文献   

一只羱羊     

尼·里亚什柯  郑雅丹 《小作家选刊(小学)》2011,(4)

我小时候,家住在村头。我很喜欢睡在房顶上,在这里什么都可以听得见,还可以看得很远。村子左边是一片光秃秃的荒沙地;右边和后面都是果园;正面是一条很深的山沟,山沟里奔流着—道溪水。 一天,天还不亮流水声就把我唤醒了。我望着外面,忽然发现山沟那边有什么东西闪了一下。  相似文献   

浅谈科学发展观视野的循环经济模式构建     

托胡托巴依·牙合甫 《大观周刊》2011,(23):93-93

贯彻落实科学发展观的首要任务是保护环境与资源,实现经济社会发展和生态建设、资源节约、环境保护的统一,因而与构建循环经济模式之间具有密切的协同关系。主要分析和探讨了科学发展观视野下的循环经济模式构建方法。  相似文献   

提高高校辅导员综合素质与能力的对策建议     

衣不拉音·司马义  阿西木·阿布都热西提 《大观周刊》2011,(47):77-77

抓好高校辅导员队伍建设对加强和改进大学生思想政治教育工作具有重要的现实意义。当前高校辅导员队伍普遍存在配备欠合理、非专业化程度高、思想不稳定等问题,为改变这一现状,提高辅导员的综合素质和能力,高校应不断完善辅导员队伍建设、完善辅导员绩效考评及考核机制、重视对辅导员的培训等。  相似文献   

德国电子书与电子书阅读器的现状及未来发展     

乌苏拉·劳滕堡  邹莉 《出版科学》2011,19(1):11-13

概述德国电子图书市场的现状,重点论述德国电子阅读设备的传播和电子图书的市场容量。指出电子图书和电子阅读器市场的最重要驱动力和市场壁垒,并对2015年的电子图书和阅读器市场状况进行预测。  相似文献