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排序方式: 共有4695条查询结果,搜索用时 15 毫秒
31.
Gregg E Homanics Kristen Skvorak Carolyn Ferguson Simon Watkins Harbhajan S Paul 《BMC medical genetics》2006,7(1):33-13
Background
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to combat this disease. A major hurdle in developing new treatments has been the lack of a suitable animal model. 相似文献32.
33.
Cruz I Napier SS van der Waal I Snijders PJ Walboomers JM Lamey PJ Cowan CG Gregg TA Maxwell P Meijer CJ 《Journal of clinical pathology》2002,55(2):98-104
AIMS: No good predictive marker for the malignant transformation of potentially malignant oral lesions (PMOLs) is currently available. This study re-evaluated the value of p53 immunoexpression to predict malignant transformation of PMOLs after discounting possible confounding factors. METHODS: PMOLs from 18 patients who showed progression to carcinoma, 16 of the respective carcinomas, and PMOLs from 18 matched controls were evaluated by immunohistochemistry (IHC) for p53 expression. A mouse monoclonal antibody that detects wild-type and mutant forms of human p53 was used. The p53 immunostaining pattern was also correlated with the degree of dysplasia. RESULTS: Suprabasal p53 staining was significantly associated with high grades of dysplasia (p < 0.01). The specificity and positive predictive value (PPV) for malignant transformation of suprabasal p53 staining were superior to the assessment of dysplasia, but sensitivity was inferior. All carcinomas derived from PMOLs with suprabasal p53 showed strong p53 immunostaining. However, the absence of suprabasal p53 staining and/or dysplastic changes did not preclude malignant transformation in a considerable proportion of PMOLs. CONCLUSIONS: This study confirms and extends previous findings that suprabasal p53 immunoexpression has a high PPV for malignant transformation of PMOLs and can be used as a specific marker for lesions that are at high risk for malignant transformation. The absence of suprabasal p53 staining (that is, absence of, or basal, p53 staining) is non-informative for prognostic purposes. Because of its limited sensitivity, p53 IHC is not a substitute for the assessment of dysplasia in the evaluation of PMOLs. Instead, p53 IHC emerges as a clinically useful supplement of histopathological assessment in the prognosis of PMOLs. 相似文献
34.
Monoclonal antibody MCS-2 as the marker of phorbol diester-induced myeloid differentiation in acute undifferentiated leukemia 总被引:1,自引:0,他引:1
S L Gregg K J Gajl-Peczalska T W LeBien C D Bloomfield R Brunning K Sagawa 《Cancer research》1984,44(6):2724-2730
Leukemic cells from 32 cases of acute leukemia were cultured in vitro with the tumor promoter 12-O-tetradecanoylphorbol-13-acetate (TPA) to study their differentiative potential. Three cases of acute undifferentiated leukemia (AUL) were studied intensively. We found that culturing of leukemic cells with TPA can induce changes in cell surface antigens. In particular, MCS-2, a "pan" granulocyte/monocyte marker, was inducible in vitro in AUL and in acute myelogenous leukemia, while it was not inducible in acute lymphoblastic leukemia. BA-2 (recognizing the Mr 24,000 protein) and TA-1 (recognizing the Mr 170,000 and Mr 95,000 proteins) were also inducible in cases of AUL, acute myelocytic leukemia, and acute monoblastic leukemia, although these antigens are not limited only to leukemias of the myelomonocytic lineage. Our studies also indicate that undifferentiated cells could be induced to nonspecific esterase and sometimes to chloroacetate esterase reactivity while losing terminal deoxynucleotidyl transferase. Morphological studies in these cases revealed cytological maturation following TPA treatment. In most cases, these changes were also partially inducible by culturing cells in medium alone or with the addition of dimethyl sulfoxide but not to the extent that was demonstrated by TPA. Our studies showed that MCS-2 is a very good, specific marker of acute nonlymphocytic leukemia. A potential use for TPA to aid in the subclassification of patients with AUL is also suggested. 相似文献
35.
36.
WG Mitchell H Lynn JF Bale MA Maeder SM Donfield B Garg AH Tilton JK Willis TP Bohan 《Pediatrics》1997,100(5):817-824
BACKGROUND: Boys and young men with hemophilia treated with factor infusions before 1985 had a substantial risk of acquiring the human immunodeficiency virus (HIV) and the acquired immunodeficiency syndrome. This study was designed to assess the effects of HIV and hemophilia per se on neurological function in a large cohort of subjects with hemophilia, and to investigate the relationships between neurological disease and death during follow-up. METHODS: Three hundred thirty-three boys and young men (207 HIV seropositive and 126 HIV seronegative) were evaluated longitudinally in a multicenter, multidisciplinary study. Neurological history and examination were conducted at baseline and annually for 4 years. The relationship between neurological variables, HIV serostatus, CD4+ cell counts, and vital status at the conclusion of the study was examined using logistic regression models. RESULTS: The risks of nonhemophilia-associated muscle atrophy, behavior change, and gait disturbance increased with time in immune compromised HIV-seropositive subjects compared with HIV seronegative or immunologically stable HIV-seropositive subjects. The risk of behavior change in immune compromised HIV-seropositive hemophiliacs, for example, rose to 60% by year 4 versus 10% to 17% for the other study groups. Forty-five subjects (13.5%), all of whom were HIV seropositive, died by year 4. Subjects who died had had increased risks of hyperreflexia, nonhemophilia-associated muscle atrophy, and behavior change. CONCLUSIONS: These results indicate that immune compromised, HIV-seropositive hemophiliacs have high rates of neurological abnormalities over time and that neurological abnormalities were common among subjects who later died. By contrast, immunologically stable HIV-seropositive subjects did not differ from the HIV-seronegative participants. Hemophilia per se was associated with progressive abnormalities of gait, coordination, and motor function. 相似文献
37.
38.
Aronowitz ER Ganley TJ Goode JR Gregg JR Meyer JS 《The American journal of sports medicine》2000,28(2):168-175
The purpose of this study was to evaluate anterior cruciate ligament reconstructions performed in adolescents with open physes and a skeletal age of at least 14 years. At one center, from 1992 to 1996, 19 adolescents (ages, 11 to 15 years) with open physes and a skeletal age of at least 14 years underwent arthroscopic anterior cruciate ligament reconstruction using an Achilles tendon allograft placed through drill holes across the open physes in both the distal femur and proximal tibia. Fifteen patients returned for reevaluation at an average of 25 months postoperatively (range, 12 to 60 months); the remaining four patients were interviewed by telephone. There were no significant leg-length discrepancies or angular deformities as determined by scanograms and anteroposterior and lateral radiographs of the femur and tibia. The mean Lysholm knee score was 97 (range, 94 to 100) and the mean KT-1000 arthrometer side-to-side difference at 20 pounds of anterior force was 1.7 mm (range, 0.0 to 3.0). All patients were satisfied with the results of surgery, and 16 of 19 patients returned to the same sport they were participating in before the injury. This study demonstrates that anterior cruciate ligament reconstruction using an Achilles tendon allograft is a viable treatment option for skeletally immature patients with a skeletal age of 14 years who have sustained midsubstance tears of the anterior cruciate ligament. 相似文献
39.
Fitzpatrick R. Norquist J.M. Jenkinson C. Reeves B.C. Morris R.W. Murray D.W. Gregg P.J. 《Quality of life research》2004,13(2):331-338
The purpose of this study was to examine whether there are advantages in terms of outcome assessment of using Rasch methods of scoring the 12-item Oxford Hip Score (OHS) questionnaire over conventionally Likert scores. As part of a prospective cohort study of total hip replacements in five former regions of England the OHS was sent to patients pre-operatively, at 3 months and 1 year post-operatively. Post-operative data was collected on over 5000 cases. Based on the level of satisfaction with surgery, patients were divided into satisfied and dissatisfied. Analyses were performed to test the relative precision (RP) of Rasch scoring vs. conventionally Likert scores in discriminating the groups experiencing different level of satisfaction. Considerable gains in precision were achieved with Rasch scoring methods when groups were compared 3 and 12 months post-operatively. The results from the current study suggest that in some situations there may be substantial gains in measuring health related outcomes using Rasch-based scoring methods. 相似文献
40.