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排序方式: 共有416条查询结果,搜索用时 718 毫秒
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Radiography of hereditary presacral teratoma 总被引:3,自引:0,他引:3
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Habermann TM Weller EA Morrison VA 《癌症进展》2006,4(5):376-376
背景侵袭性B细胞淋巴瘤是目前最常见的非霍奇金淋巴瘤类型,主要包括弥漫大B细胞淋巴瘤(DLBCL)和套细胞淋巴瘤(MCL)。超过60%的患者被诊断出B细胞淋巴瘤时年龄都在60岁以上。在过去的30年间,CHOP方案(环磷酰胺、多柔比星、长春新碱、泼尼松)是治疗DLBCL的金标准。年龄较轻的患者 相似文献
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MB Sheridan A Bytyci Telegrafi V Stinnett CC Umeh Z Mari TM Dawson J Bodurtha DAS Batista 《Clinical genetics》2013,84(4):368-372
Myoclonus‐dystonia (M‐D) is a movement disorder that is often associated with mutations in epsilon‐sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24‐year‐old male with short stature (<5th percentile) and a movement disorder clinically consistent with M‐D. Single nucleotide polymorphism (SNP) array did not identify significant copy number changes, but revealed three long continuous stretches of homozygosity on chromosome 7 suggestive of uniparental disomy. Parental SNP arrays confirmed that the proband had maternal uniparental disomy of chromosome 7 (mUPD7) with regions of heterodisomy and isodisomy. mUPD7 is the cause of approximately 5–10% of Silver–Russell syndrome (SRS), a disorder characterized by prenatal and postnatal growth retardation. Although SRS was not suspected in our patient, these findings explain his short stature. SGCE methylation testing showed loss of the unmethylated paternal allele. Our findings provide a unifying diagnosis for his short stature and M‐D and help to optimize his medication regimen. In conclusion, we show that M‐D is a clinical feature that may be associated with SRS due to mUPD7. Individuals with mUPD7 should be monitored for the development of movement disorders. Conversely, individuals with M‐D and short stature should be evaluated for SRS. 相似文献
149.
Roosmarijn TM van Hooijdonk Peter E Spronk Marcus J Schultz 《Critical care (London, England)》2014,18(2):1-2
Choice of the right renal replacement therapy for severe acute kidney injury in critically ill patients has been investigated many times in the last two decades. Although some questions have been answered, in current practice many different approaches are still used in the ICU. One basic and important issue is the frequency of renal replacement delivery: apart from pathophysiological speculations, in terms of hard outcomes (namely mortality and length of hospital stay) should dialysis be delivered continuously or intermittently? The authors of the CONVINT study provided a (last) response to this debate: in expert hands, the two treatments provide similar outcomes. This study confirms previous studies and is also important for other aspects, such as the possibility that the two modalities are complementary and may be indicated for different purposes. 相似文献
150.
Myelomonocytic antigen positive multiple myeloma 总被引:6,自引:0,他引:6
In a four year span, between 1983 and 1987, 215 bone marrow and cell culture samples from 125 myeloma patients were immunotyped and coexpression of myelomonocytic and plasma cell antigens occurred in 16 (13%). We employed both immunohistochemical and flow cytometry methods including coplots and double labelling. Three types of myeloma cases were found: (1) those with isolated myeloid antigen coexpression, usually Leu M1 or esterase (BE, CE) positive (11 cases); (2) those with multiple myeloid antigens (Leu M1, M3, M5, MY7, BE, CE) (four cases); and (3) one case beginning as 1 and ending as 2. Isolated myeloid antigen expression was generally associated with typical features of myeloma with survival close to the anticipated median (33 months), while multiple myeloid antigen expression was associated with more aggressive disease and shorter survival duration (median survival 16 months). The latter subgroup also had other poor prognostic factors including high labelling index and common acute lymphoblastic leukemia antigen (CALLA) positivity. Other features found overall were frequent abnormal karyotypes (seven of 12 abnormal) and coexpressed IgA (eight of 16); all IgA+ cases also coexpressed Leu M1. We conclude that there is an unusual and unexpected predilection for coexpression of myelomonocytic antigens in myeloma cells. The reasons are not immediately obvious. Whether the coexpression indicates that myeloma cells truly have latent multilineage potential or just aberrantly coexpress other hematopoietic antigens as a manifestation of malignancy remains to be explained. However, a cell line established from the bone marrow of one patient is a valuable scientific tool allowing detailed analysis of these questions. 相似文献