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排序方式: 共有305条查询结果,搜索用时 31 毫秒
1.
Nocturnal pains of the leg were the only complaint of a 2 1/2-year-old girl with recurrent dislocations of the left hip. Unusual movement during sleep probably caused the dislocations. This case represents a benign entity characterized by spontaneous or voluntary posterior dislocations of the femoral head in young children without other significant connective tissue abnormalities. 相似文献
2.
J Chemke R Nisani A Feigl R Garty M Cooper Y B?rash D Duksin 《Journal of medical genetics》1984,21(3):173-177
Marfan syndrome is an autosomal dominant condition with varying phenotypic manifestations. Affected persons are usually heterozygotes. A family is presented in which the gene for this syndrome is segregating in a large number of members. Two sibs suffered from unusually severe, identical, and fatal manifestations from birth, their parents having mild cardiovascular and somatic symptoms common in Marfan syndrome. Investigation of collagen biosynthesis in fibroblasts revealed no abnormalities in fibronectin and procollagen I and III synthesis and secretion or in the procollagen to collagen conversion. We suggest that these two sibs are examples of homozygosity for the Marfan syndrome gene, based on the large number of affected members, the absence of additional consanguinity, manifestation of the syndrome in both parents, and the severity of the disease in the two sibs. 相似文献
3.
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses 总被引:12,自引:0,他引:12
Yang K Puel A Zhang S Eidenschenk C Ku CL Casrouge A Picard C von Bernuth H Senechal B Plancoulaine S Al-Hajjar S Al-Ghonaium A Maródi L Davidson D Speert D Roifman C Garty BZ Ozinsky A Barrat FJ Coffman RL Miller RL Li X Lebon P Rodriguez-Gallego C Chapel H Geissmann F Jouanguy E Casanova JL 《Immunity》2005,23(5):465-478
Five TLRs are thought to play an important role in antiviral immunity, sensing viral products and inducing IFN-alpha/beta and -lambda. Surprisingly, patients with a defect of IRAK-4, a critical kinase downstream from TLRs, are resistant to common viruses. We show here that IFN-alpha/beta and -lambda induction via TLR-7, TLR-8, and TLR-9 was abolished in IRAK-4-deficient blood cells. In contrast, IFN-alpha/beta and -lambda were induced normally by TLR-3 and TLR-4 agonists. Moreover, IFN-beta and -lambda were normally induced by TLR-3 agonists and viruses in IRAK-4-deficient fibroblasts. We further show that IFN-alpha/beta and -lambda production in response to 9 of 11 viruses tested was normal or weakly affected in IRAK-4-deficient blood cells. Thus, IRAK-4-deficient patients may control viral infections by TLR-3- and TLR-4-dependent and/or TLR-independent production of IFNs. The TLR-7-, TLR-8-, and TLR-9-dependent induction of IFN-alpha/beta and -lambda is strictly IRAK-4 dependent and paradoxically redundant for protective immunity to most viruses in humans. 相似文献
4.
Study of ECG-gated thallium-201 myocardial scintigraphy: Is imaging time a limiting factor? 总被引:2,自引:2,他引:0
Dr. I. Garty A. Kardontchik 《European journal of nuclear medicine and molecular imaging》1984,9(4):173-176
Twenty patients underwent gated synchronized 201Tl myocardial scanning (TMS). Twelve also performed a rest blood pool multigated acquisition (MUGA) study. A static image was obtained by adding all the gated frames of the study. In this way we found the conventional static study quite unnecessary.Comparing the gated TMS to the static one revealed significantly improved resolution in the gated images and additional information concerning wall motion and myocardial thickness. Close agreement was found with results of MUGA studies of the same patients.By the addition of diastolic frames the imaging time needed to obtain improved image quality was found to be not more than 10 min per view. The exclusion of imaging time as a limiting factor for gated TMS is stressed. 相似文献
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Hoffer V Finkelstein Y Balter J Feinmesser M Garty BZ 《Acta paediatrica (Oslo, Norway : 1992)》2003,92(8):983-985
A 2-y-old girl with severe edema, oliguria and hypoalbuminemia caused by protein-losing gastritis was diagnosed with cytomegalovirus-associated Ménétrier's disease. After almost two weeks, during which the patient required repeated albumin transfusions, she was treated with intravenous ganciclovir. Within five days her condition had improved, and no additional albumin replacement was needed. Complete recovery was observed after several weeks. CONCLUSION: In patients with severe Ménétrier's disease, a course of ganciclovir treatment may be of benefit and should be considered. 相似文献
9.
Several recent studies have reported conflicting results on the effectiveness of danazol, an attenuated androgen, in raising plasma levels of clotting factors VIII and IX in patients with hemophilia. We undertook a randomized, double-blind cross-over trial using 8 weeks' administration of danazol (D), 600 mg/d, and 8 weeks' administration of placebo (P) separated by 2 weeks of rest in 12 patients with hemophilia A and four patients with hemophilia B. Plasma factor VIII and IX levels, frequency and type of bleeding episodes, amount of factor concentrate infused, fibrinogen, fibrinolysis assays, antithrombin III, liver function, and immune parameters were followed. During the danazol phase a minimal increase was noted in the average clotting factor levels, an increase that, although statistically significant, was of hemostatically marginal magnitude. Significant increases in protein C and plasminogen levels, however, were observed during the danazol period, suggestive of danazol-mediated enhanced fibrinolysis. Clinically, bleeding frequency was significantly increased, and more clotting factor was consumed during the danazol period. Furthermore, eight episodes of hematuria and oral mucosal bleeding was reported during the danazol phase in contrast to only one episode of hematuria during the placebo phase, consistent with an enhancement of fibrinolytic activity with danazol. We conclude that danazol does not have a hemostatically significant effect on plasma levels of factor VIII and IX but may be associated with enhancement of fibrinolytic activity, resulting in increased bleeding frequency and requiring more clotting factor infusions. Therefore, danazol is not a viable alternative in the treatment of hemophilia. 相似文献
10.
J Garty 《Environmental research》1987,43(1):104-116
The lichen Ramalina duriaei (De Not.) Bagl. was transplanted to 22 biomonitoring sites for 1 year (1981-1982). The amounts of Ni, Cr, Cu, Zn, Pb, Mn, and Fe in the lichen material were measured at the end of the transplantation period and the data were compared with the amounts of five of these metals (Ni, Cr, Cu, Zn, and Pb) which were detected in the same lichen species transplanted in the same study area during the 1979-1980 period. The differences between the amounts of the five metals detected during the two periods are discussed. The increase in amounts of some of the metals in the 1981-1982 lichen material (Pb, Ni, and probably Cr) reflects the increase in the total number of motor vehicles between the two periods within the study area. The decrease of Zn in the lichen after the second period reflects a decrease in the use of Zn as a constituent of foliar nutrients in agriculture used for crop spraying. The increase of Cr and Ni in the transplanted lichen after the 1981-1982 period probably also reflects, apart from vehicle pollution, a certain emission from the 250-m-high stacks of a new coal-fired electricity-generating power station. 相似文献