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11.
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease 总被引:1,自引:0,他引:1
IJ Cohen 《Clinical genetics》2007,72(2):160-160
12.
Intra-arterial tissue adhesive for medical splenectomy in humans 总被引:2,自引:0,他引:2
13.
Julie C Crockett David J Mellis Kathleen IJ Shennan Angela Duthie John Greenhorn Debbie I Wilkinson Stuart H Ralston Miep H Helfrich Michael J Rogers 《Journal of bone and mineral research》2011,26(8):1926-1938
Familial expansile osteolysis and related disorders are caused by heterozygous tandem duplication mutations in the signal peptide region of the gene encoding receptor activator of NF‐κB (RANK), a receptor critical for osteoclast formation and function. Previous studies have shown that overexpression of these mutant proteins causes constitutive activation of NF‐κB signaling in vitro, and it has been assumed that this accounts for the focal osteolytic lesions that are seen in vivo. We show here that constitutive activation of NF‐κB occurred in HEK293 cells overexpressing wild‐type or mutant RANK but not in stably transfected cell lines expressing low levels of each RANK gene. Importantly, only cells expressing wild‐type RANK demonstrated ligand‐dependent activation of NF‐κB. When overexpressed, mutant RANK did not localize to the plasma membrane but localized to extensive areas of organized smooth endoplasmic reticulum, whereas, as expected, wild‐type RANK was detected at the plasma membrane and in the Golgi apparatus. This intracellular accumulation of the mutant proteins is probably the result of lack of signal peptide cleavage because, using two in vitro translation systems, we demonstrate that the mutations in RANK prevent cleavage of the signal peptide. In conclusion, signal peptide mutations lead to accumulation of RANK in the endoplasmic reticulum and prevent direct activation by RANK ligand. These results strongly suggest that the increased osteoclast formation/activity caused by these mutations cannot be explained by studying the homozygous phenotype alone but requires further detailed investigation of the heterozygous expression of the mutant RANK proteins. © 2011 American Society for Bone and Mineral Research 相似文献
14.
深静脉血栓形成(DVT)的年发病率为48-182/10万,一般估计为1/1000。DVT病死率为1%-5%,发病率和病死率与年龄密切相关。慢性疼痛、肿胀、偶尔腿部皮肤溃疡等血栓后综合征见于1/3发生过DVT的患者。血栓后综合征可出现较早,也可迟至10年才出现,总的发病率为2年23%,5年28%。患者如使用弹力加压袜至少2年以上,腿部病变的发生率可 相似文献
15.
英国血液学界通常通过纤维蛋白原的测定来判断纤维蛋白量的降低和质的异常,评估出血危险性。纤维蛋白原的升高通常预示各种缺血性事件的存在,建议进行纤维蛋白原检测就是基于这种观点。 纤维蛋白原的测定方法有多种,其中Clauss检测法(以凝血酶时间为基础)是英国医院最常采用的,它可选用多种检测试剂和测定方法。许多实验室配置了自动凝集仪,其中许多是根据光散射变化的差异或凝血酶原时问(PT-Fg)检测时光密度的变化来计算纤维蛋白原的量。PT-Fg法检测中还存在一系列的问题, 相似文献
16.
IJ Webb ; CE Eickhoff ; AD Elias ; LJ Ayash ; CA Wheeler ; GN Schwartz ; GD Demetri ; KC Anderson 《Transfusion》1996,36(2):160-167
BACKGROUND: Peripheral blood progenitor cells (PBPCs) are commonly collected and used to reconstitute hematopoiesis after high-dose chemotherapy. However, strategies for optimal collection and assessment of leukapheresis components are not standardized. STUDY DESIGN and METHODS: Hematopoietic progenitor cell assays were performed on 369 leukapheresis components collected from 95 patients who had received doxorubicin-based chemotherapy and/or granulocyte-colony-stimulating factor (G-CSF). Precollection patient hematologic values, leukapheresis collection values, component hematopoietic progenitor cell assays, and patient outcome measures were summarized. The kinetics of mononuclear cell (MNC) and PBPC mobilization were assessed among four patient groups. RESULTS: Patient group was a significant predictor of the peripheral blood MNC count on the day of collection (p<0.0001), and that value was a significant predictor of granulocyte-macrophage– colony-forming unit (CFU-GM) yield (p<0.0001). This relationship between the peripheral blood MNC count on the day of collection and CFU- GM yield differed according to patient group (p<0.0001). CFU-GM made up a larger fraction of peripheral blood MNCs collected from patients who received chemotherapy plus G-CSF than collected from those who received G-CSF alone. Moreover, the peripheral blood MNC count and the corresponding CFU-GM yield increased significantly on consecutive days of collection in patient groups receiving chemotherapy and G-CSF but were unchanged or decreased in patients receiving G-CSF alone. CONCLUSION: The relationship between peripheral blood MNC count and leukapheresis component CFU-GM yield differed significantly between patients who received chemotherapy and G-CSF and those who received G- CSF alone for the mobilization of PBPCs. Patient peripheral blood MNC count and component CFU-GM yield are useful for both assessing and suggesting revisions to PBPC mobilization and collection strategies. 相似文献
17.
IJ Eltringham N Thalange D Ireland H Issler A Teall 《Acta paediatrica (Oslo, Norway : 1992)》1997,86(5):547-548
This report describes a relapse of Salmonella paratyphi B infection in a child with biliary atresia, following 2 weeks of treatment with ciprofloxacin. The recrudescence was complicated by the development of osteomyelitis and was treated with chloramphenicol, trimethoprim, ceftriaxone and ampicillin in succession. 相似文献
18.
李江源 《军医进修学院学报》1990,11(1):27-29
动情间期母羊切除卵巢并皮下植入持续释放的E_2后,平均LH基础分泌水平和LH脉冲幅高比对照组显著减低,LH脉冲频率无明显改变。LH的平均基础分泌水平和脉?中幅高显著相关。表明植入E_2对垂体LH分泌的抑制作用主要是抑制LH对GnRH的反应,作用部位在垂体,不在下丘脑。LH基础分泌水平的下降,亦可能是E_2的抑制作用所致。 相似文献
19.
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma 总被引:7,自引:1,他引:6
Valverde P; Healy E; Sikkink S; Haldane F; Thody AJ; Carothers A; Jackson IJ; Rees JL 《Human molecular genetics》1996,5(10):1663-1666
Melanocyte stimulating hormone (MSH) plays an important role in determining
the cutaneous response to ultraviolet radiation and may also influence
melanoma progression. We have previously shown that variants of the
melanocortin receptor present on melanocytes, MC1R, are associated with sun
sensitivity and red hair in a UK population and therefore now consider the
gene as a candidate for melanoma susceptibility. We have compared the
frequency of known MC1R variants in the second and seventh transmembrane
domains in 43 melanoma cases and 44 controls. MC1R variants were more
common in cases than controls (chi 2 = 6.75, 1 d.f.; P = 0.0094) with a
relative risk to carriers of variant alleles compared with normal
homozygotes of 3.91 (95% c.l.: 1.48-10.35), and a population risk
attributable to carriers of 34.6% (95% c.i. 10.7-52.1%). The Asp84Glu
variant was only present in melanoma cases and appears to be of particular
significance. The contribution of variant MC1R alleles was largely
independent of skin type. Variants of the MC1R gene are likely to be
causally associated with the development of melanoma.
相似文献
20.
Although there have been great advances in cancer diagnosis in recent years, it remains difficult to transfer tumor location information from cross-sectional computed tomographic (CT) scans or magnetic resonance images to the simulation and verification films used in planning radiotherapy. A newly developed system uses radioopaque markers attached to the patient as reference points. These markers are identified on both CT scans and simulation films and their locations entered into the treatment planning computer. The tumor and any desired normal structures are then outlined manually on each CT section. Transparent overlays produced by the computer show the position of the reference markers and tumor outlines for any combination of gantry angles and source-film distance. Because the overlays are scaled to the simulation films, the reference points enable precise alignment of overlay and film. The tumor outline thus appears on the simulation or verification films exactly as it is "seen" by the therapy beam, making field verification straightforward and accurate, even on oblique films. 相似文献