儿茶酚-邻-甲基转移酶基因多态性与强迫症

目的：探索儿茶酚-邻-甲基转移酶(COMT)基因多态性同强迫症临床特征的关系。方法：采用聚合酶链反应扩增技术与限制性片段长度多态(PCR-RFLP)测定120例强迫症(OCD)患者和130例健康对照者的基因型；根据Yale-Brown强迫量表评分将强迫症划分亚型。结果：强迫症患者COMT基因型与等位基因分布与健康对照者之间无显著差异；强迫行为组与强迫思想组的COMT基因型分布存在差异；G／A基因型多见于强迫行为组。结论：COMT基因多态可能对强迫症的发病没有直接的作用，但G／A基因型可能对症状是否表现为强迫动作有一定的影响。     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings.

Reports of parkinsonism in phenylketonuria are exceedingly rare. We report on a patient who had received a delayed diagnosis of phenylketonuria as an infant and subsequently developed levodopa-responsive parkinsonism at the age of 33. Single-photon emission computed tomography (SPECT) using (123)I-FP-CIT ([(123))I]-2 beta-carbomethoxy-3beta-(-4-iodophenyl)-N-(3-fluoropropyl)-nortropane) used to measure dopamine transporter levels on two occasions, 7 and 9 years after the onset of neurological symptoms, were normal. Iodine-123-iodo-lisuride SPECT (IBZM) imaging, however, showed reduced caudate over putamen binding. This combination of imaging findings indicates a possible upregulation of postsynaptic D2 receptors in the context of intact presynaptic dopamine nerve terminal density.     

雌激素及其受体对心血管系统保护作用实验研究进展

雌激素对心血管系统具有重要的保护作用。雌激素及其受体主要通过调节血管舒张功能、抑制血管平滑肌细胞增殖和迁移以及影响肾素 -血管紧张素等介导这一保护作用。但临床上雌激素替代治疗尚未得到肯定 ,需进一步研究     

Study on Bone Mineral Density and its Influencing Factors among 1 214 Older Adults in Xuhui District, Shanghai

Osteoporosis is a common disease in older adults. The basic evidence for the diagnosisof osteoporosis is the decrease of bone mineral density (BMD) [1]. Studies showed that the risk of fractures would rise as the bone mineral density decreased, and the me…     

Acetylator polymorphism in multiple sclerosis

To elucidate whether any relationship exists between genetic polymorphic acetylation and the risk for multiple sclerosis (MS), we determined this polymorphism, using sulphamethazine, in 71 patients with definite MS and in 268 age-matched controls. Thirty-seven patients (52.1%) and 151 controls (56.3%) were classified as slow acetylators (not significant difference). No relation was found between acetylator polymorphism and age at onset of disease in MS patient's group. Our results do not support the existence of any relationship between acetylator polymorphism and the risk for MS.     

No evidence for association between the −112G/A polymorphism of UGRP1 and childhood atopic asthma

BACKGROUND: Susceptibility to asthma is known to involve genetic factors. Genome-wide screens have indicated that the chromosome 5q31-q34 region is linked to and/or associated with asthma. A new gene, named UGRP1 and reported by Niimi et al., encodes uteroglobin-related protein and is expressed in the lung and trachea. Niimi et al. showed the -112G/A polymorphism of the UGRP1 gene to be associated with asthma in a case-control study. OBJECTIVE: The objective of the present study was to replicate this association and confirm the possible role of the UGRP1-112G/A polymorphism in the aetiology of childhood asthma in a Japanese population. METHODS AND RESULTS: We conducted a transmission disequilibrium test (TDT) in 131 families identified through paediatric patients being treated for asthma. A case-control study was also carried out by comparing the probands and 137 unrelated non-atopic non-asthmatic Japanese children and 211 unrelated healthy Japanese adults. The -112G/A polymorphism was genotyped by the PCR-RFLP method. The TDT revealed that the -112A allele was not preferentially transmitted to asthma-affected children (P=0.85). Neither the presence of at least one A allele in an individual's genotype (sum of the G/A and A/A genotypes) nor the -112A allele was more prevalent among the asthma subjects than among the control subjects. CONCLUSION: Our findings indicate that the UGRP1-112G/A polymorphism does not play a substantial role in genetic predisposition to childhood asthma in this Japanese population.     

Genetic polymorphism of MHC class III and GLO in Chinese Yao nationality

Yao nationality is one of the minority nationalities living mainly in South China (Guangxi Province). The purpose of this study was to provide data of MHC classI and GLO in Chinese Yao nationality and the different genetic background of Yao and Han nationality, the latter representing the major nationality in China. The genetic polymorphism of MHC classI and GLO in Chinese Yao nationality was determined. Previously the Japanese were considered to have the lowest C*₂C frequencies (0.9386), but now we ascertained that the Yao have the lowest C2*C frequencies (0.9336). The data concerning gene frequencies of Yao are presented. They were also compared with the available data of Han.     

Lack of correlation between coronary artery calcium and myocardial perfusion imaging

BACKGROUND: Coronary artery calcium (CAC) provides evidence of coronary atherosclerosis and has significant prognostic power. Although prior studies have documented a relationship between CAC and hemodynamically significant coronary artery stenosis, the results have not been conclusive. METHODS AND RESULTS: We evaluated 126 consecutive patients who underwent electron beam computed tomography CAC scoring by use of the Agatston method and stress myocardial perfusion imaging (MPI) within 3 months of each other. The analysis revealed no correlation between absolute CAC score and age- and gender-adjusted CAC scores with MPI. Overall, 18% of patients had abnormal MPI results irrespective of their CAC. CONCLUSION: CAC scoring and stress MPI should be thus considered complementary approaches rather than exclusionary in the evaluation of the patient at risk for coronary artery disease.