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Bone sarcomas in Paget disease: a study of 85 patients 总被引:5,自引:0,他引:5
This is a comprehensive review of 85 patients who had bone sarcoma associated with Paget disease and who were seen at Memorial Sloan-Kettering Cancer Center between 1927 and 1982. There was an almost equal distribution of tumors in the axial and the appendicular skeletons. The pelvis, humerus, femur, and skull were the tumor sites in 80% of cases. The tumors were bulky large soft tissue masses. Lytic lesions were more common than sclerotic lesions. Mixed lytic and sclerotic lesions were much less common than either single type. Periosteal reaction was uncommon and found in less than 7%. Methylene diphosphonate scans of the bone often showed a cold area that was associated with marked increase in uptake on the gallium scan. Angiography, which was performed in 13 patients, was useful, but CT was much more helpful in showing the soft tissue mass as well as the extent of bony disease. Only three patients in this study survived for five years. Present chemotherapy protocols were disappointing in the treatment of this highly lethal tumor. 相似文献
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Use of a radioimmunoassay to quantify thrombospondin 总被引:8,自引:0,他引:8
Results of radioimmunoassay procedures applied to samples containing thrombospondin indicated that reliable values are obtained either in saline or in plasma. Plasma levels in apparently normal individuals ranged from approximately 20 to 300 ng/ml. The mean for 20 individuals was 175 ng/ml. Plasma specimens stored either refrigerated at 4 degrees C or frozen at -80 degrees C showed significantly diminished thrombospondin levels over a period of 90 days. Serum levels of thrombospondin were found to range from 10,000 to 30,000 ng/ml. 相似文献
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Dunnick NR; Carson CC; Braun SD; Miller GA; Cohan R; Degesys GE; Illescas FF; Newman GE; Weinerth JL 《Radiology》1985,157(1):51-55
In 224 patients, renal stones were removed from the urinary tract using either direct extraction with a basket or forceps (59 patients), ultrasonic lithotripsy (164 patients), or infusion chemotherapy (one patient). Residual stone fragments were present more frequently in patients treated with ultrasonic lithotripsy (27%) than with direct extraction (5%). Other complications included hemorrhage (eight patients), catheter dislodgement (four patients), large amounts of urine extravasation (three patients), glycine ascites (three patients), infection (two patients), pneumothorax (one patient), and a prolonged ileus (one patient). More complications occurred among the first 50 patients than the last 50 patients, even though more difficult cases, including patients with staghorn calculi, were accepted during the latter period. Although a learning curve exists, complications can be minimized by attempting to treat more favorable cases during the initial experience. 相似文献
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Piton A Michaud JL Peng H Aradhya S Gauthier J Mottron L Champagne N Lafrenière RG Hamdan FF;SD team Joober R Fombonne E Marineau C Cossette P Dubé MP Haghighi P Drapeau P Barker PA Carbonetto S Rouleau GA 《Human molecular genetics》2008,17(24):3965-3974
In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation. We showed that the function of the resulting truncated IL1RAPL1 protein is severely altered in hippocampal neurons, by measuring its effect on neurite outgrowth activity. We also sequenced the coding region of the close related member IL1RAPL2 and of NCS-1/FREQ, which physically interacts with IL1RAPL1, in a cohort of subjects with autism. The screening failed to identify non-synonymous variant in IL1RAPL2, whereas a rare missense (R102Q) in NCS-1/FREQ was identified in one autistic patient. Furthermore, we identified by comparative genomic hybridization a large intragenic deletion of exons 3-7 of IL1RAPL1 in three brothers with autism and/or MR. This deletion causes a frameshift and the introduction of a premature stop codon, Ala28GlufsX15, at the very beginning of the protein. All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism. 相似文献
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It is now clear that parenteral growth hormone (GH) therapy stimulates growth and increases the adult stature of girls with Turner syndrome. In addition, oestrogens are given to almost all girls with this syndrome because of primary hypogonadism. Oestrogens influence both growth and maturation of the epiphyseal growth plates. Therefore, the form and timing of oestrogen therapy may have an important impact on the outcome of other growth-promoting therapies. To examine the impact of the timing of oestrogen initiation on growth, a randomized trial was conducted in patients with Turner syndrome who were receiving GH. Some patients received oestrogen at 12 years of age, while in others this treatment was not started until 15 years of age. Those girls that received oestrogen later were significantly taller as adults. The single most important factor in determining height gain appeared to be the number of years of GH therapy prior to the initiation of oestrogen treatment. 相似文献
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