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1.
Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease. 相似文献
2.
Correlation between allergy and persistent Epstein-Barr virus infections in chronic-active Epstein-Barr virus-infected patients 总被引:1,自引:0,他引:1
G B Olson M N Kanaan G M Gersuk L M Kelley J F Jones 《The Journal of allergy and clinical immunology》1986,78(2):308-314
Forty-six anti-Epstein Barr nuclear antigen-positive allergic patients, 11 of whom having clinical and laboratory evidence of chronic-active Epstein-Barr virus (CA-EBV) infections, were characterized by EBV serology, percentages of T cells, B cells, and IgE+ cells, serum levels of IgE, and allergen-induced responsiveness of lymphocytes. Results demonstrated patients with CA-EBV have significantly increased responsiveness toward specific allergens, responses toward greater numbers of allergens, numbers of IgE+ T and B cells, and levels of background DNA activity in nonstimulated lymphocytes than do subjects who suffer from allergies in the absence of the CA-EBV syndrome. Further comparison between subjects with laboratory-determined mild and moderate allergy and those with CA-EBV demonstrated a progressive increase in the serum levels of IgE as the degree of allergy increased, no difference in concentrations of T and B cells, and titers of anti-viral capsid antigen and anti-early antigen to be significantly greater in patients with CA-EBV. Statistical analysis demonstrated that patients with CA-EBV could be separated from subjects with allergies by metabolic and immunologic variables. The data suggested that allergen-induced responses may contribute to the CA-EBV syndrome. 相似文献
3.
SB Grover N Midha M Gupta U Sharma VH Talib 《Journal of Medical Imaging and Radiation Oncology》2005,49(2):175-178
The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal. 相似文献
4.
5.
Purification of Hageman factor (HF, factor XII) from human plasma is a tedious procedure and the product is not always in the precursor form. Hojima has described a protein derived from corn kernels that inhibits the enzymatic properties of HF. This inhibitor binds to the precursor form of HF. Rapid purification of HF was achieved by using as the major purification step adsorption of this clotting factor to popcorn inhibitor bound to agarose. The product had a specific activity of 50.0 to 67.1 coagulant units of HF per milligram protein, and the yield was 33% to 40% of the HF content of the starting plasma. The purified protein displayed a single band upon unreduced or reduced sodium dodecyl sulfate polyacrylamide gel electrophoresis and less than 0.1% was in an activated form, as measured in coagulant assays. The technique described is more rapid and reliable than methods described earlier. 相似文献
6.
HLA-DRB1 typing in rheumatoid arthritis: predicting response to specific treatments 总被引:4,自引:1,他引:4
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J. O'Dell B. Nepom C. Haire V. Gersuk L. Gaur G. Moore W. Drymalski W. Palmer P Eckhoff L. Klassen S. Wees G. Thiele G. Nepom 《Annals of the rheumatic diseases》1998,57(4):209-213
OBJECTIVE—To determine the predictive value of shared epitope alleles for response to treatment in patients with rheumatoid arthritis.
METHODS—Patients from our previously published triple DMARD study were tested for the presence of shared epitope alleles (DRB1 *0401,0404/0408, 0405,0101, 1001,and 1402). Patients who were shared epitope positive were then compared with those who were negative to see if there was a differential effect on therapeutic response.
RESULTS—Shared epitope positive patients were much more likely to achieve a 50% response if treated with methotrexate-sulphasalazine-hydroxychloroquine compared with methotrexate alone (94% responders versus 32%, p<0.0001). In contrast shared epitope negative patients did equally well regardless of treatment (88% responders for methotrexate-sulphasalazine-hydroxychloroquine versus 83% for methotrexate). Additionally, a trend toward an inverse relation of the gene dose was seen for response to methotrexate treatment (p=0.05).
CONCLUSIONS—These data suggest that determining shared epitope status may provide clinical information useful in selecting among treatment options.
Keywords: DRB1; rheumatoid arthritis; combination treatment; shared epitope 相似文献
METHODS—Patients from our previously published triple DMARD study were tested for the presence of shared epitope alleles (DRB1 *0401,0404/0408, 0405,0101, 1001,and 1402). Patients who were shared epitope positive were then compared with those who were negative to see if there was a differential effect on therapeutic response.
RESULTS—Shared epitope positive patients were much more likely to achieve a 50% response if treated with methotrexate-sulphasalazine-hydroxychloroquine compared with methotrexate alone (94% responders versus 32%, p<0.0001). In contrast shared epitope negative patients did equally well regardless of treatment (88% responders for methotrexate-sulphasalazine-hydroxychloroquine versus 83% for methotrexate). Additionally, a trend toward an inverse relation of the gene dose was seen for response to methotrexate treatment (p=0.05).
CONCLUSIONS—These data suggest that determining shared epitope status may provide clinical information useful in selecting among treatment options.
Keywords: DRB1; rheumatoid arthritis; combination treatment; shared epitope 相似文献
7.
Francesca Giannoni Cinnamon L Hardee Jennifer Wherley Eric Gschweng Shantha Senadheera Michael L Kaufman Rebecca Chan Ingrid Bahner Vivian Gersuk Xiaoyan Wang David Gjertson David Baltimore Owen N Witte James S Economou Antoni Ribas Donald B Kohn 《Molecular therapy》2013,21(5):1044-1054
Transduction and transplantation of human hematopoietic stem/progenitor cells (HSPC) with the genes for a T-cell receptor (TCR) that recognizes a tumor-associated antigen may lead to sustained long-term production of T cells expressing the TCR and confer specific antitumor activity. We evaluated this using a lentiviral vector (CCLc-MND-F5) carrying cDNA for a human TCR specific for an HLA-A*0201-restricted peptide of Melanoma Antigen Recognized by T cells (MART-1). CD34+ HSPC were transduced with the F5 TCR lentiviral vector or mock transduced and transplanted into neonatal NSG mice or NSG mice transgenic for human HLA-A*0201 (NSG-A2). Human CD8+ and CD4+ T cells expressing the human F5 TCR were present in the thymus, spleen, and peripheral blood after 4–5 months. Expression of human HLA-A*0201 in NSG-A2 recipient mice led to significantly increased numbers of human CD8+ and CD4+ T cells expressing the F5 TCR, compared with control NSG recipients. Transduction of the human CD34+ HSPC by the F5 TCR transgene caused a high degree of allelic exclusion, potently suppressing rearrangement of endogenous human TCR-β genes during thymopoiesis. In summary, we demonstrated the feasibility of engineering human HSPC to express a tumor-specific TCR to serve as a long-term source of tumor-targeted mature T cells for immunotherapy of melanoma. 相似文献
8.
Jason R. Kolfenbach Kevin D. Deane Lezlie A. Derber Colin O'Donnell Michael H. Weisman Jane H. Buckner Vivian H. Gersuk Shan Wei Ted R. Mikuls James O'Dell Peter K. Gregersen Richard M. Keating Jill M. Norris V. Michael Holers 《Arthritis care & research》2009,61(12):1735-1742
Objective
To describe a large, multicenter prospective cohort study of first‐degree relatives (FDRs) of probands with rheumatoid arthritis (RA), and outline the use of such a study in investigating the natural history of RA development.Methods
A total of 1,058 FDRs, none of whom met the American College of Rheumatology criteria for RA, were enrolled in a prospective study investigating genetic and environmental influences on the development of RA‐related autoimmunity. Demographic, epidemiologic, genetic, autoantibody, and physical examination data from the initial study enrollment visit were described for these FDRs, and the relationship was examined between genetic factors, autoantibodies, inflammation, and joint disease.Results
Fifty‐five percent of the FDRs had ≥1 copy of the shared epitope, 20% had ≥1 copy of the PTPN22 polymorphism, and ~16% were positive for rheumatoid factor (RF; including isotypes) and/or anti–cyclic citrullinated peptide antibody. IgM‐RF positivity is associated with ≥1 tender joint on examination (odds ratio [OR] 2.50, 95% confidence interval [95% CI] 1.27–4.89; P < 0.01) and elevated C‐reactive protein (CRP) levels (OR 5.31, 95% CI 1.45–19.52; P = 0.01).Conclusion
FDRs without RA demonstrate high prevalences of genetic risk factors and RA‐related autoantibodies. Additionally, an RF association with tender joints and elevated CRP levels suggests that autoantibodies are a valid intermediate marker of RA‐related autoimmunity in this cohort. This prospective FDR cohort will be a valuable resource for evaluating the relationship between genetic and epidemiologic factors and the development of RA‐related autoimmunity. 相似文献9.
PS SUKTHANKAR HK PARIKH BN BORGHAIN VH DESHMANE RS RAO DM PARIKH 《Medical Journal Armed Forces India》1998,54(3):196-198
A retrospective analysis of 127 surgically treated cases of T-1, T-2 carcinoma of oral tongue during the period 1987-1990 was undertaken. 68.5 per cent (87) underwent hemiglossectomy and 31.5 per cent (40) underwent wide excision. There were loco-regional recurrences in 22 per cent (27). In the hemiglossectomy group 9 per cent (8 of 87) had local recurrences compared to 25 per cent (10 of 40) of wide excision group, (P = 0.01). Mean disease free survival was 40 months and 33 months for hemiglossectomy group and wide excision group respectively, (P = 0.006). It is seen that local recurrences are significantly less for the hemiglossectomy group compared to the wide excision group.KEY WORDS: Disease free survival, Early cancer, Recurrence, Surgery, Tongue 相似文献
10.
用抗小鼠EGF抗血清作第一抗体,用ABC免疫组织化学方法对生后3、6、9、12、15、21d龄和成年BALB/c小鼠肾脏内EGF的定位进行了研究。实验表明,EGF样免疫反应均定位于远端小管,且多集中于上述部位细胞的顶部。新生幼鼠和3d龄鼠的肾脏切片上EGF样免疫反应为阴性。6d龄切片上EG免疫反应甚弱。随年龄增长,EGF样免疫反应亦增强。21d龄小鼠肾脏较其他年龄组和成年鼠有较强的免疫反应。本研究 相似文献