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31.
Harbo HF Utsi E Lorentzen AR Kampman MT Celius EG Myhr KM Lie BA Mellgren SI Thorsby E 《Tissue antigens》2007,69(4):299-304
This study confirms a low frequency of multiple sclerosis (MS) among Sami. Only 12 Sami with a diagnosis of MS were identified in the Norwegian Sami population, which represents a significantly lower prevalence of MS in Sami (30/10(5)) compared with other Norwegians (73-164/10(5)). The clinical characteristics as well as the results of human leukocyte antigen (HLA)-DRB1 and -DQB1 typing of the Sami MS patients are reported, showing that three (27%) of the Sami MS patients carried the MS-associated HLA-DRB1*15-DQB1*06 haplotype. Interestingly, the DRB1*15-DQB1*06 haplotype had a significantly reduced frequency among Sami controls (0.086) compared with non-Sami Norwegian controls (0.163) (P(corrected) = 0.015). The low frequency of the disease-associated DRB1*15-DQB1*06 haplotype in the Sami population may contribute to the low prevalence of MS in Sami, in addition to other yet unidentified genetic and environmental factors. 相似文献
32.
Moog R Zeiler T Heuft HG Stephan B Fischer EG Kretschmer V Rödel-Spieker R Strasser E Zingsem J 《Transfusion》2003,43(10):1502-1502
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34.
Preparation of factor IX deficient human plasma by immunoaffinity chromatography using a monoclonal antibody 总被引:1,自引:0,他引:1
Goodall AH; Kemble G; O'Brien DP; Rawlings E; Rotblat F; Russell GC; Janossy G; Tuddenham EG 《Blood》1982,59(3):664-670
A murine hybridoma clone is described that grows continuously in culture and produces a monoclonal antibody we have called Royal Free Monoclonal Antibody to factor IX No. 1 (RFF-IX/1). This has high affinity for a coagulation site on factor IX. RFF-IX/1 immobilised on sepharose can be used to deplete factor IX from normal human plasma. This immunoaffinity depleted plasma is indistinguishable from severe Christmas disease plasma and can be used as the substrate in a one stage coagulation assay for factor IX. The affinity column has high capacity and can be regenerated so that large scale production from normal plasma of factor IX deficient plasma as a diagnostic reagent is now feasible. 相似文献
35.
Formstone CJ; Hallam PJ; Tuddenham EG; Voke J; Layton M; Nicolaides K; Hann IM; Cooper DN 《Blood》1996,87(9):3731-3737
Molecular genetic and phenotypic analyses were performed in a highly unusual case of combined protein S and protein C deficiency manifesting in a family in which a child had died perinatally from renal vein thrombosis. Antenatal diagnosis in a second pregnancy was initially performed by indirect restriction fragment length polymorphism (RFLP) tracking using a neutral dimorphism within the PROS gene and served to exclude severe protein S deficiency. Am umbilical vein blood sample at 22 weeks gestation showed isolated protein C deficiency. This pregnancy proceeded to a full-term delivery without thrombotic complications. Molecular genetic analysis of the PROC and PROS gene segregating in the family then yielded one PROC gene lesion in the father and two PROS gene lesions, one in each parent. These lesions were shown to segregate with the respective deficiency states through the family pedigree. Analysis of DNA from paraffin-embedded liver tissue taken from the deceased child showed the presence of both PROS mutations, as well as the PROC mutation. Genotypic analysis of the second child showed a PROC mutation, but neither PROS mutation consistent with its possession of normal protein S levels and a low/borderline protein C level. Antenatal diagnosis was then performed in a third pregnancy by direct mutation detection. However, although the fetus carried only the paternal PROS and PROC gene lesions, the child developed renal thrombosis in utero. It may be that a further genetic lesion at a third locus still remains to be defined. Alternatively, the intrauterine development of thrombosis in this infant could have been caused, at least in part by a transplacental thrombotic stimulus arising in the protein S-deficient maternal circulation. This analysis may, therefore, serve as a warning against extrapolating too readily from genotype to phenotype in families with a complex thrombotic disorder. 相似文献
36.
Background and Purpose: A study of carotid endarterectomies performed without angiography was conducted in order to evaluate the safety of this approach in a selected group of patients. 相似文献
37.
The fibrinogen activity in thawed cryoprecipitate stored between 1 and 6 degrees C is maintained essentially unchanged in most bags for a month. Occasionally, a bag will have a reduction in fibrinogen. If pooling has not occurred, thawed cryoprecipitate should be useful as a source of fibrinogen for a period of time considerably in excess of the 6 hours allowed for its use as a source of factor VIII or von Willebrand factor. 相似文献
38.
39.
Aortic dissection: magnetic resonance imaging 总被引:2,自引:0,他引:2
Fifteen patients with suspected or known aortic dissection were imaged with magnetic resonance (MR). Thirteen of these patients were eventually shown to have dissection. In most instances the diagnosis was established by aortography and/or computed tomography (CT) prior to the MR study. Surgical proof (6/13) and/or aortographic proof (10/13) were available in 11/13 patients with aortic dissection. MR demonstrated the intimal flap and determined whether the dissection was type A or type B. In addition, MR: differentiated between the true and false lumens; determined the origins of the celiac, superior mesenteric, and renal arteries from the true or false lumen in the cases where the dissection extended into the abdominal aorta (8/12); allowed post-surgical surveillance of the dissection; and identified aortoannular ectasia in the three patients who had Marfan syndrome. In addition to the 13 cases with dissection, there were two cases in whom the diagnosis of dissection was excluded by MR. Our early experience suggests that MR can serve as the initial imaging test in clinically suspected cases of aortic dissection and that the information provided by MR is sufficient to manage many cases. Additionally, MR obviates the use of iodinated contrast media. 相似文献
40.
The capability of magnetic resonance (MR) imaging for detecting aortic, iliac, and femoral stenoses and occlusions was evaluated. Multisection spin-echo studies at 0.35 tesla were obtained of the infrarenal aorta to the femoral bifurcation in 24 patients, all of whom had undergone intraarterial angiography within 14 days of imaging. Transaxial MR images were compared with the angiograms. Arterial stenoses and occlusions in these vessels detected by MR imaging correlated with angiographic findings in 91% of the instances. Protrusional atherosclerotic plaques and occlusions and stenoses in the aortoiliac region were demonstrated accurately on MR images; complications of previous vascular surgery, such as aneurysms at sites of previous anastomoses or endarterectomy, were also identified. Due to the limited spatial resolution, MR images failed to demonstrate some femoral stenoses. MR imaging may be used for evaluation of aortoiliac vascular disease and for follow-up study after surgical revascularization. However, the limited spatial resolution, noncomposite display of the aortoiliofemoral circulation, and lack of evaluation of peripheral runoff provided by current MR imaging techniques militate against its replacing angiography prior to vascular intervention. 相似文献