心脏磁共振灌注成像用于冠状动脉疾病功能评价:与冠状动脉造影和血流储备分数的比较

Aims: Cardiac magnetic resonance perfusion imaging(CMRI) is a promising technique for non-invasive measurement of myocardial perfusion reserve. Fractional flowreserve(FFR) is an established invasive method for functional assessment of coronary artery disease(CAD). To prospectively assess the diagnostic value of CMRI for the detection of haemodynamically significant coronary lesions, compared with coronary angiography(CA) and FFR. Methods and results: Forty-three patients with suspected or known CAD underwent CA, CMRI, and FFR measurement. First pass magnetic resonance perfusion examination was performed during hyperaemia(140 μg/kg/min adenosine over 6 min) and at rest. One hundred and twenty-nine perfusion territories were assessed by semi-quantitative evaluation of signal intensity-time curves using the myocardial perfusion reserve index(MPRI)[upslopestress(corrected)/ upsloperest(corrected)]. Perfusion territories were categorized as normal(coronary stenosis≤50%), intermediate(stenosis >50%and FFR >0.75), or severe(stenosis >50%and FFR≤0.75 or total occlusion). MPRI values(±SD) were significantly different between the three categories[normal, 2.2±0.5 vs. intermediate, 1.8±0.5(P=0.005) and intermediate vs. severe, 1.2±0.3(P< 0.001)]. An MPRI cut-off value of 1.5(derived from receiver operating characteristics analysis) distinguished haemodynamically relevant(severe) from non-relevant(normal and intermediate) stenoses with a sensitivity of 88%(CI 74-100%)and a specificity of 90%(CI 84-96%). Conclusion: In contrast to earlier studies that compared CMRI with morphological examination(CA) alone, the present study compared CMRI with CA plus a standard invasive functional assessment(FFR) and demonstrated that CMRI is able to distinguish haemodynamically relevant from non-relevant coronary lesions with a high sensitivity and specificity and may therefore contribute to clinical decision-making.

Nos3基因多态性与妊娠晚期不明原因胎死宫内的关系

Objective: Genetic polymorphisms associated with vascular diseases have been proposed to be involved in the pathogenesis of late unexplained intrauterine fetal death (IUFD). The Nos3 gene is known to regulate vascular tone via the endothelial nitric oxide synthase/nitric oxide pathway. Study design: In a multicenter case-control study, we evaluated two Nos3 polymorphisms (exon 7 Glu298Asp and a 27 bp-repeat in intron 4) in 92 women with IUFD and 92 healthy control women. Results: The investigated Nos3 polymorphisms were not associated with the occurrence of IUFD. In the subgroup of pregnancies affected by IUFD, women with at least one mutant allele of the Nos3 intron 4 polymorphism were diagnosed with IUFD at a significantly earlier gestational age (31.8 [standard deviation (SD) = 4.9] weeks versus 34.6 [SD=4.8] weeks, p=0.02) and showed a significantly reduced birth weight (2113 g [SD = 1028] versus 1571 g [SD = 568], p = 0.03). Conclusion: We are the first to report on Nos3 polymorphisms and IUFD. While not being associated with the incidence of IUFD overall, the intron 4 Nos3 polymorphism might modulate the timing of IUFD in affected pregnancies.

10个雌激素相关基因的多态性与子宫内膜异位症:关于多个基因间相互作用的研究

Objective: Genetic as well as hormonal factors are known to influence the development and clinical course of endometriosis. We aimed to investigate the association among 10 single nucleotide polymorphisms (SNPs) involved in the estrogen metabolism and endometriosis and to develop a multiple genetic model. METHODS: In a case-control study, we investigated the genotype frequencies of 10 estrogen metabolizing SNPs in 32 patients with endometriosis and 790 healthy controls using sequencing-on-chip-technology with solid-phase polymerase chain reaction on oligonucleotide microarrays: catechol-O-methy-ltransferase, Val158Met G->A, 17-β-hydroxysteroid dehydrogenase type 1 (HSD17), vIV A->C, cytochrome P450 (CYP), 17 A2 allele T->C, CYP1A1 Mspl RFLP T->C, CYP1A1 Ile462ValA->G, CYP19 Arg264-Cys C->T, CYP19 C1558T C->T, CYP 1B1 Leu432Val, CYP1B1 Asn453Ser, and estrogen receptor alpha. IVS1-401>C. Associations and 2-way interaction models between SNPs were calculated by stepwise logistic regression models. RESULTS: In a univariate model, HSD17 vIV A->C was associated with a significantly increased risk of endometriosis (P = .004; odds ratio 3.9, 95%confidence interval 1.6-9.8). When all 2-way interactions of investigated SNPs were ascertained, no significant interactions among SNPs were observed. In a multivariate model, HSD17 vIV A->C was also significantly associated with endometriosis (P = .002). CONCLUSION: We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vIV A->C as a low penetrance genetic marker of endometriosis.

磁共振首过灌注成像中的造影剂延迟:一项无创性检测侧支循环供血心肌的新指标

目的:确定可在冠心病患者中检测侧支循环供血心肌的磁共振灌注成像(MRPI)造影剂局部延迟。设计和机构:观察性研究、病例系列;单中心、大学医院。