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B Ljungberg G Holmberg J G Sj?din S O Hietala R Stenling 《The Journal of urology》1990,143(4):797-799
We report a case of renal cell carcinoma within a simple renal cyst in the lower pole of the right kidney. Excretory urography showed a mass and ultrasonography revealed multiple renal cysts with a solid component arising from the wall in 1. This finding also was visualized by computerized tomography. Analysis of the cystic fluid showed a high cholesterol level but negative cytological results. At operation a 7 mm. tumor arose from the wall of the cyst. Histopathological examination showed grade 3 renal cell carcinoma with an aneuploid deoxyribonucleic acid content. 相似文献
5.
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. 总被引:7,自引:0,他引:7
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L Holmberg J A Dent R Schneppenheim U Budde J Ware Z M Ruggeri 《The Journal of clinical investigation》1993,91(5):2169-2177
Variant von Willebrand disease designated as type I New York or type Malmö is characterized by enhanced ristocetin-induced platelet agglutination with normal von Willebrand factor multimeric distribution in plasma. We have studied four such patients belonging to three unrelated families and found in all of them a unique cytosine-to-thymine transition changing the codon for Pro503 (CCG) to Leu (CTG). In three patients the mutant allele also had a silent mutation in the codon for Ser500 (TCG-->TCA). Both nucleotide changes are present in the von Willebrand factor pseudogene; however, the characterization of distinctive markers where the gene and pseudogene differ, as well as the examination of amplified cDNA derived from platelet mRNA, confirmed that the abnormality occurs in the von Willebrand factor gene of the patients. Moreover, recombinant expression of the isolated glycoprotein Ib-binding domain of von Willebrand factor provided direct evidence that the Pro503-->Leu mutation is responsible for enhanced platelet reactivity to lower ristocetin concentrations. These results define a new structural element affecting the affinity of von Willebrand factor for glycoprotein Ib and establish the molecular basis of a variant form of von Willebrand disease. 相似文献
6.
H O Adami B Glimelius P Sparén L Holmberg U B Krusemo J Pontén 《Acta oncologica (Stockholm, Sweden)》1992,31(1):1-10
The temporal changes in childhood and adolescent cancer survival in Sweden 1960-1984 were analyzed. Complete follow-up through 1986 of 6,262 patients younger than 20 years at diagnosis revealed that the overall 5-year survival rates increased from 36.1 to 65.7% in males and from 43.6 to 73.6% in females. The temporal trends differed markedly between age groups and tumour sites and types. Over the study period, 5-years, survival for testicular cancer increased from 46.9 to 87.2%, kidney cancer, predominantly Wilms' tumour from 35.5 to 77.1% (with a higher rate of 89.1% in 1975-1979), Hodgkin's disease from 61.2 to 91.9%, non-Hodgkin's lymphoma from 32.5 to 76.6%, and all leukemias from 8.9 to 58.7%. Only a moderate improvement was noted for tumours of the bone, muscle and connective tissue, and survival rates for tumours of the nervous system remained largely unchanged. Our data reflect the remarkable therapeutic improvements that have occurred for cancer in the young and indicate that these improvements have rapidly become available in Sweden. 相似文献
7.
Standardization of the surgical technique in breast-conserving treatment of mammary cancer 总被引:2,自引:0,他引:2
A number of designations--for example excision, wide excision, lumpectomy, tylectomy, extended tylectomy, partial mastectomy, tumorectomy, segmental resection and quadrantectomy--have been applied to operative procedures aimed at treating mammary carcinoma with preservation of the breast. None of them, however, has been explicitly linked to a defined surgical technique and there is no consensus about the terminology. We propose a simple classification system for breast-conserving procedures, which can facilitate the communication between surgeons and the interpretation and exchange of scientific data. We also describe a strictly defined and locally radical partial mastectomy--a sector resection--which has been used at several centres in Sweden for more than 5 years with a favourable outcome so far in terms of local tumour control and the cosmetic result. 相似文献
8.
Water suppressed proton nuclear magnetic resonance (1H NMR) spectroscopy of human plasma has been described as successful in detection of malignancy. We designed a prospective study to test the hypothesis that in vitro NMR spectroscopy has a high sensitivity for detecting early breast cancer. One hundred and thirty-five women were referred for breast biopsy due to abnormal mammograms. One hundred of these were recruited through a population-based mammography screening project. Sixty-nine of 135 women were found to have breast cancer and their average line width of the methyl and methylene resonance in the plasma were compared to those women who had a benign or normal histopathology in the biopsy and to the line width for 100 healthy subjects from the same population. The mean line width at a half-height of the methyl and methylene resonances of the serum lipoprotein lipids in the NMR spectrum did not differ appreciably between the groups. The line width correlated highly with the serum triglycerides, but correction for the level of triglycerides did not improve the diagnostic accuracy of the line width. Receiver-operating characteristic analysis revealed a sensitivity of 61% and a false positive rate of 43% at the most beneficial cut-off of line width (39.7 Hz). In vitro NMR spectroscopy in our hands was thus not a useful diagnostic tool in patients with early breast cancer. 相似文献
9.
Cardiovascular malformations, work attendance, and occupational exposures during pregnancy in Finland 总被引:1,自引:0,他引:1
J Tikkanen K Kurppa H Timonen P C Holmberg E Kuosma K Rantala 《American journal of industrial medicine》1988,14(2):197-204
To explore for associations between occupational factors and cardiovascular malformations, information on the parents of 160 infants with cardiovascular malformations and 160 control parents was studied. The case infants had been reported consecutively to the Finnish Register of Congenital Malformations. All mothers were interviewed identically after delivery, using both open and pro forma questions about detailed work tasks, exposures, and leisure activities during pregnancy. The interview information was evaluated blindly. Neither parental occupational titles nor maternal working per se gave new clues to the teratogenic risk; nor did shift working, wearing of personal protective equipment, or the mother's own opinion on exposures during pregnancy. Identified occupational exposures, as categorized by an industrial hygienist, showed no remarkable associations to cardiovascular malformations. Few mothers were exposed substantially to specific occupational hazards. Comparing mothers who used medications in the first trimester with those who did not showed an odds ratio of 2.2 (95% confidence interval 1.3-3.9) when adjusted for potential confounding by multivariate logistic methods. 相似文献
10.
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions 总被引:8,自引:13,他引:8
Holmberg M; Duyckaerts C; Durr A; Cancel G; Gourfinkel-An I; Damier P; Faucheux B; Trottier Y; Hirsch EC; Agid Y; Brice A 《Human molecular genetics》1998,7(5):913-918
Autosomal dominant cerebellar ataxia with progressive macular degeneration
is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein.
Neuronal intranuclear inclusions were detected in the brain of an early
onset SCA7 case with the 1C2 antibody directed against an expanded
polyglutamine domain. Nuclear inclusions were most frequent in the inferior
olivary complex, a site of severe neuronal loss in SCA7. They were also
observed in other brain regions, including the cerebral cortex, not
considered to be affected in the disease. Using confocal microscopy we
showed that some inclusions were ubiquitinated, but to varying degrees,
ranging from <1% in the cerebral cortex to 60% in the inferior olive. In
addition, we also observed cytoplasmic staining using the 1C2 antibody,
particularly in the supramarginal gyrus, the hippocampus, the thalamus, the
lateral geniculate body and the pontine nuclei. These data confirm that the
presence of intranuclear inclusions in neurons is a common characteristic
of disorders caused by CAG/polyglutamine expansions, but unlike what has
been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the
inclusions were not restricted to the sites of severe neuronal loss.
相似文献