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排序方式: 共有497条查询结果,搜索用时 15 毫秒
21.
Devos D Schraen-Maschke S Vuillaume I Dujardin K Nazé P Willoteaux C Destée A Sablonnière B 《Neurology》2001,56(2):234-238
BACKGROUND: The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. The mutations for SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, and SCA-12 are identified and caused by an expansion of a CAG or a CTG repeat sequence of these genes. Six additional loci for SCA4, SCA5, SCA-10, SCA-11, SCA-13, and SCA-14 are mapped. The growing heterogeneity of the autosomal dominant forms of these diseases shows that the genetic etiologies of at least 20% of ADCA have yet to be elucidated. METHODS: The authors ascertained and clinically characterized a four-generation pedigree segregating an autosomal dominant phenotype for SCA. Direct mutation analysis, repeat expansion detection analysis, and linkage analysis for all known SCA loci were performed. RESULTS: Direct mutational analysis excluded SCA1, 2, 3, 6, 7, 8, and 12; genetic linkage analysis excluded SCA4, 5,10, 11, 13, and 14, giving significant negative lod scores. Examination of the family showed that all affected members had gait ataxia and akinesia with variable features of dysarthria, hyporeflexia, and mild intellectual impairment. Eye movements were normal. Head MRI showed atrophy of the cerebellum without involvement of the brainstem. In 10 parent-child pairs, median onset occurred 10.5 years earlier in offspring than in their parents, suggesting anticipation. CONCLUSION: This family is distinct from other families with SCA and is characterized by cerebellar ataxia and extrapyramidal signs. 相似文献
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Testis-specific antigen (TSA-1) is expressed in murine sperm and its antibodies inhibit fertilization 总被引:2,自引:0,他引:2
Trivedi RN Naz RK 《American journal of reproductive immunology (New York, N.Y. : 1989)》2002,47(1):38-45
PROBLEM: We recently cloned and sequenced a sperm-specific antigen, designated as testis-specific antigen-1 (TSA-1), from human testis. The present study was conducted to examine its expression and function in murine sperm, in order to find out whether or not the mouse can provide a suitable model for examining its immunocontraceptive effects. METHOD OF STUDY: The antibodies (Ab) were raised against purified human rTSA-1 in virgin female rabbits. The rTSA-1 was run in sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) and the gel containing the approximately 18 kDa band was cut, minced and used for immunization to obtain the specific Ab. The immunoglobulins from preimmune bleed and from animals injected with adjuvant alone served as control. These Ab were analysed in enzyme-linked immunosorbent assay (ELISA), Western blot procedure, immunoprecipitation procedure, immunocytochemical technique (ICT), immunobead binding technique (IBT), acrosome reaction and sperm-zona binding assay. RESULTS: Active immunization of female rabbits with purified rTSA-1 protein of 18 kDa, produced high titer Ab against the recombinant antigen. These Ab to rTSA-1 were used in the present study. In Western blot procedure, rTSA-1 Ab recognized a specific protein band of approximately 24 +/- 3 kDa in murine sperm extract, the band similar to found in human sperm extract. In the immunoprecipitation procedure, rTSA-1 Ab immunoprecipitated the protein band of similar size from extracts of murine sperm and murine testis. The ICT and the IBT studies revealed the subcellular localization of TSA-1 on the surface of acrosome and tail regions of the non-capacitated and capacitated murine sperm cells. In functional bioassays, rTSA-1 Ab inhibited the acrosome reaction and sperm-egg binding in vitro. CONCLUSIONS: These data indicate that the TSA-1 is expressed in murine sperm and may have a biological role in sperm function and sperm-egg binding. In vitro inhibition of capacitation/acrosome reaction and sperm-zona binding suggests that the mouse can provide a suitable model to examine the immunocontraceptive effects of TSA-1 in actively immunized animals. 相似文献
24.
Gercekoglu H Aydin NB Dagdeviren B Ozkul V Sener T Demirtas M Tezel T Eren E Ozler A 《Journal of cardiac surgery》2003,18(3):217-224
BACKGROUND: There are no standard criteria for the timing of drain removal. The objective of this study was to determine whether the macroscopic appearance of chest tube drainage fluid to serosanguineous may be used as a criteria for drain removal. METHODS: 2,359 patients were assessed retrospectively and 80 randomized patients were followed prospectively who underwent cardiac surgery. In both parts of the study, patients were divided into two groups according to the timing of drain removal. Group I consisted of patients whose chest tubes were removed as soon as the macroscopic appearance of the drainage fluid turned to serosanguineous. Group II consisted of patients whose chest tubes were removed at the second postoperative day when the drainage output declined to less than 50 mL in a five-hour period. In the retrospective part, cases of hemodynamically significant pericardial effusion observed within seven days postoperatively were reviewed. In the prospective part, just before the drain removal, the fluid sample hematocrit obtained from the drain lines and patients' blood hematocrit were measured and recorded. Patients were evaluated with echocardiography for pericardial effusion. RESULTS: No statistically significant difference was detected in the frequency of hemodynamically significant pericardial effusion and incidence or amount of pericardial effusion between the two study groups. The drain hematocrit to blood hematocrit ratios before drain removal showed a significant correlation with pericardial effusion.The strength of correlation between the drain hematocrit to blood hematocrit ratios before drain removal and pericardial effusion was also studied using receiver operating characteristic curve, which suggests that a drain hematocrit to blood hematocrit ratio of < or = 0.3 is strongly predictive that pericardial effusion would be absent or mild between the fifth and seventh postoperative days. CONCLUSIONS: It is safe to remove the chest tubes as soon as the macroscopic appearance of the drainage fluid turns to serosanguineous since this practically indicates cessation of active bleeding. 相似文献
25.
Naz RK Leslie MH Zhu X 《American journal of reproductive immunology (New York, N.Y. : 1989)》2001,45(1):52-61
PROBLEM: The present study was conducted to investigate the oocyte membrane protein(s) that is involved in sperm binding in the mouse, and whether or not it can be used for the development of a contraceptive vaccine. METHOD OF STUDY: The zona-free oocytes were treated with Triton X-100 and the extract was analyzed for homogeneity in the sodium dodecylsulfate (SDS)-polyacrylamide gel electrophoresis (PAGE) after staining with silver nitrate. The appropriate band of 50+/-4 kD, designated as OM antigen, was excised from the gel and used for the immunization. The female rabbits were immunized with the excised band per se and the female mice were immunized with the OM antigen after conjugation to keyhole limpet hemocyanin (KLH). The affinity-purified antibodies were analyzed in the enzyme-linked immunosorbent assay (ELISA), immunoprecipitation procedure, western blot procedure, indirect immunofluorescence technique (IFT), and spermoolemma binding assay. Actively-immunized mice were analyzed for in vivo fertility. RESULTS: The Triton X-100 extract of zona-free oocytes predominantly showed a single protein band of 50+/-4 kD in the SDS-PAGE. Active immunization of female rabbits and of female mice with OM antigen raised high antibody titers (ELISA titer > 1:4096) that specifically recognized the OM antigen in the immunoprecipitation and Western blot procedures, and reacted with the oocyte in the IFT. These antibodies demonstrated a significant (P < 0.05) up to a complete block of sperm-oolemma binding in the in vitro binding assay. Binding of both the acrosome-intact and acrosome-reacted sperm was inhibited. Mice actively immunized with OM antigen also showed a significant reduction in vivo fertility as seen by the 9-day implants in uteri. Preliminary data indicate that the antibodies to OM antigen were tissue-specific and did not react with the specific band in any tissue extract in the western blot procedure. CONCLUSIONS: These results indicate that the OM antigen is involved in spermoolemma binding and constitute an attractive molecule that needs further investigation for examining its utility in the contraceptive vaccine development. 相似文献
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Surucu Yilmaz Naz Bilgic Eltan Sevgi Kayaoglu Basak Geckin Busranur Heredia Raul Jimenez Sefer Asena Pinar Kiykim Ayca Nain Ercan Kasap Nurhan Dogru Omer Yucelten Ayse Deniz Cinel Leyla Karasu Gulsun Yesilipek Akif Sozeri Betul Kaya Goksu Gokberk Yilmaz Ismail Cem Baydemir Ilayda Aydin Yagmur Cansen Kahraman Deniz Haimel Matthias Boztug Kaan Karakoc-Aydiner Elif Gursel Ihsan Ozen Ahmet Baris Safa Gursel Mayda 《Journal of clinical immunology》2022,42(3):582-596
Journal of Clinical Immunology - NF-κB essential modulator (NEMO, IKK-γ) deficiency is a rare combined immunodeficiency caused by mutations in the IKBKG gene. Conventionally, patients are... 相似文献
30.
Katja Lohmann Felix Schlicht Marina Svetel Frauke Hinrichs Simone Zittel Julia Graf Thora Lohnau Alexander Schmidt Pablo Mir Patricia Krause Antony E. Lang Hans-Christian Jabusch Alexander Wolters Christoph Kamm Kirsten E. Zeuner Eckart Altenmüller Sadaf Naz Sun Ju Chung Vladimir S. Kostic Alexander Münchau Andrea A. Kühn Norbert Brüggemann Christine Klein 《Journal of neurology》2016,263(4):730-734