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Haider MZ Habeeb Y Al-Nakkas E Al-Anzi H Zaki M Al-Tawari A Al-Bloushi M 《Journal of biomedical science》2005,12(5):815-818
Summary Idiopathic generalized epilepsies (IGEs) are the most common types of epilepsy in childhood and adolescence. A variety of
data suggest that IGEs have a predominant genetic etiology. Recently, a number of gene mutations have been found to be associated
with various types of epilepsy in mainly the Caucasian populations. The objective of this study was to investigate the association
of three different candidate genes with IGE in Kuwaiti Arab children. This study includes 123 Kuwaiti patients with a confirmed
diagnosis of epilepsy. Most of the patients have had a diagnostic EEG with generalized spike-wave discharges (GSWs). All patients
were evaluated by using a validated seizure questionnaire. The clinical type of epilepsy was determined by a trained neurologist/pediatrician.
The study also include 100 controls, the control subjects were children which did not have any history of neurological disorders.
Blood samples were collected from all patients and control subjects after taking informed consent. DNA was isolated and analyzed
by molecular methods. A FokI polymorphism in neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) gene was detected by PCR-RFLP method.
A missense mutation (Ser248Phe) in CHRNA4 gene was analyzed by PCR-RFLP using HpaII. A C121W mutation in sodium-channel beta-1 subunit (SCN1B) gene was screened by a PCR-RFLP method using HinPI. A 2-bp deletion in Cystatin B gene was detected by PCR-RFLP using XcmI. The incidence of three FokI polymorphism genotypes in Kuwaiti IGE patients was 1,1 (85%), 1,2 (14%) and 2,2 (1%) respectively. The missense mutation
Ser248Phe of CHRNA4 gene was not detected at all in Kuwaiti IGE patients. The C387G transversion resulting in C121W change
in third exon of the SCN1B gene was detected in 3/123 patients (2%). The patients carrying this mutation also exhibited febrile
seizures. The incidence of 2 bp deletion in the cystatin B gene was found to be 4% (5/123 IGE patients). The data obtained
from molecular analysis show a lack of association between three candidate genes and clinical expression of IGE in Kuwaiti
Arab children. This is completely different from the findings reported from Caucasian populations of France, Australia and
USA in which case a strong association has been reported between IGE and these genes.
To whom corresspondence should be addressed. Tel: +965-5319486; Fax: +965-5338940; E-mail: haider@hsc.edu.kw 相似文献
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Jinlong Jian Shuai Zhao Qingyun Tian Elena Gonzalez-Gugel Jyoti Joshi Mundra Sardar MZ Uddin Ben Liu Brendon Richbourgh Ryan Brunetti Chuan-ju Liu 《FEBS letters》2013
We previously reported that PGRN directly bound to TNF receptors (TNFR) in vitro and in chondrocytes (Tang, et al., Science, 2011). Here we report that PGRN also associated with TNFR in splenocytes, and inhibited the binding of TNFα to immune cells. Proper folding of PGRN is essential for its binding to TNFR, as DTT treatment abolished its binding to TNFR. In contrast, the binding of PGRN to Sortilin was enhanced by DTT. Protein interaction assays with mutants of the TNFR extracellular domain demonstrated that CRD2 and CRD3 of TNFR are important for the interaction with PGRN, similar to the binding to TNFα. Taken together, these findings provide the molecular basis underlying PGRN/TNFR interaction and PGRN-mediated anti-inflammatory activity in various autoimmune diseases and conditions. 相似文献
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Yari A Passo FS Yari V Sanni O Yari M Dovenou MZ Traore R Hounyet JP 《Bioinformation》2008,2(6):257-259
We design a "simple" and "low cost" model technology for monitoring HIV patients CD4 number in resource-poor settings: SMARThivCD4mos. Cost and complexity are the major challenges to the developing world in transferring and implementing HIV surveillance technologies. We previously proposed a "three tests" combo kit model for improving HIV patients monitoring standards in resource-poor settings. From the pool of recommended alternative CD4 counting technologies, our "three tests" combo kit model retained the Capcellia technology for its "simplicity". However, compared to other CD4 counting technologies, such as Dynabeads, the Capcellia technology is "expensive". Here, we describe a cost reduction strategy of the Capcellia technology. 相似文献
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Yari A Passo FS Yari V Sanni O Yari M Dovenou MZ Traore R Hounyet JP 《Bioinformation》2008,2(6):246-248
We design a "simple" and "low cost" model technology for monitoring HIV viral load in resource-poor settings: SMARThivVLmos. Cost and complexity are the major challenges to the developing world, in monitoring HIV patients viral load. We have previously demonstrated in our SMARThivPack model that cost and complexity of laboratory monitoring of HIV patients, may be reduced not only at a first technology development level, but also at a second technology implementation, and at a third global coordination levels. In our SMARThivPack model, the P24 HIV viral load monitoring system passed both the "cost" and the "complexity" tests. However, compared to other alternative viral monitoring systems such as the Cavidi EXAVIR, the sensitivity of the P24 system is too low. Here we describe a dynamic model technology that overcomes the sensitivity barrier of the P24 system while maintaining simplicity and low cost. 相似文献
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We report the genome sequence of a healthcare-associated MRSA type ST239 clone isolated from a patient with septicemia in Malaysia. This clone typifies the characteristics of ST239 lineage, including resistance to multiple antibiotics and antiseptics. 相似文献
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