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1.
Mariana Spitz Alexandre Aluízio Costa Machado Rodrigo do Carmo Carvalho Fernanda Martins Maia Monica Santoro Haddad Dagoberto Calegaro Milberto Scaff Egberto Reis Barbosa 《Movement disorders》2006,21(9):1520-1522
We report on 3 patients with pseudoathetosis, which are involuntary, slow, writhing movements due to loss of proprioception. 相似文献
2.
Andre Luis Vieira Cortez Luis Augusto Passeri 《Journal of oral and maxillofacial surgery》2007,65(2):237-241
PURPOSE: A prospective radiographic study analyzed condylar position in patients who had undergone orthodontic treatment and isolated maxillary advancement after Le Fort I osteotomy. PATIENTS AND METHODS: Eleven patients were selected and radiographic images were taken in the immediate preoperative, immediate postoperative (1-2 weeks), and late postoperative periods (minimum of 6 months). Tracings were done on acetate paper for the submento-vertex radiograph, to measure the axial angulation of the condyles, and for the tomographic images of both sides, in the maximal intercuspation, rest position, and maximal opening, for the 3 periods. Linear measurements were taken for the tomograms over the posterior, superior, and anterior articular spaces. These images with the tracings were digitized and measured by means of computer software (UTHSCSA Image Tool 3.0; University of Texas Health Science Center at San Antonio, San Antonio, TX), after it had been adequately calibrated. RESULTS: The analysis of variance (ANOVA; 5% of significance) demonstrated 1) that there was no statistically significant difference for the linear measurements of the articular spaces in any of the periods, and 2) also not for the angular measure of the condyles (P > .05). In the maximal opening, there was a significant difference for the immediate postoperative period for both sides (P = .003). CONCLUSION: Le Fort I osteotomy for maxillary advancement did not cause any significant changes in this specific group of patients evaluated. 相似文献
3.
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy 总被引:4,自引:0,他引:4
Chan EM Ackerley CA Lohi H Ianzano L Cortez MA Shannon P Scherer SW Minassian BA 《Human molecular genetics》2004,13(11):1117-1129
Lafora disease (LD) is a fatal and the most common form of adolescent-onset progressive epilepsy. Fulminant endoplasmic reticulum (ER)-associated depositions of starch-like long-stranded, poorly branched glycogen molecules [known as polyglucosans, which accumulate to form Lafora bodies (LBs)] are seen in neuronal perikarya and dendrites, liver, skeletal muscle and heart. The disease is caused by loss of function of the laforin dual-specificity phosphatase or the malin E3 ubiquitin ligase. Towards understanding the pathogenesis of polyglucosans in LD, we generated a transgenic mouse overexpressing inactivated laforin to trap normal laforin's unknown substrate. The trap was successful and LBs formed in liver, muscle, neuronal perikarya and dendrites. Using immunogold electron microscopy, we show that laforin is found in close proximity to the ER surrounding the polyglucosan accumulations. In neurons, it compartmentalizes to perikaryon and dendrites and not to axons. Importantly, it binds polyglucosans, establishing for the first time a direct association between the disease-defining storage product and disease protein. It preferentially binds polyglucosans over glycogen in vivo and starch over glycogen in vitro, suggesting that laforin's role begins after the appearance of polyglucosans and that the laforin pathway is involved in monitoring for and then preventing the formation of polyglucosans. In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material. 相似文献
4.
5.
Transvaginal sonography and rectal endoscopic sonography for the assessment of pelvic endometriosis: a preliminary comparison 总被引:9,自引:0,他引:9
Bazot M Detchev R Cortez A Amouyal P Uzan S Daraï E 《Human reproduction (Oxford, England)》2003,18(8):1686-1692
BACKGROUND: Endometriosis and possible rectal involvement are difficult to assess by physical examination. Previous studies have shown the diagnostic value of magnetic resonance imaging and rectal endoscopic sonography (RES) in this setting, but not that of transvaginal sonography (TVS). The aims of this study were to compare the accuracy of TVS and RES for the diagnosis of pelvic endometriosis, and to compare the results with histological findings. PATIENTS AND METHODS: In a prospective study, 30 consecutive patients referred with clinical signs of endometriosis underwent TVS and RES; the images were interpreted blindly with regard to physical findings. RESULTS: Endometriosis was confirmed histologically in 28 (93%) of the 30 patients. Endometriomas were also present in 67% of cases. For the diagnosis of uterosacral endometriosis, the sensitivity, specificity, and positive and negative predictive values of TVS and RES were 75 and 75%, 83 and 67, 95 and 90%, and 45 and 40% respectively. For the diagnosis of rectosigmoid endometriosis, the sensitivity, specificity, and positive and negative predictive values of TVS and RES were 95 and 82%, 100 and 88%, 100 and 95%, and 89 and 64% respectively. CONCLUSION: Despite the large proportion of our patients who had intestinal endometriosis, representing a possible source of bias, our results suggest that TVS is as efficient as RES for detecting posterior pelvic endometriosis and should therefore be used as the first-line examination. 相似文献
6.
Neuronal intranuclear inclusion disease (NIID) is a progressive, usually fatal degenerative neurologic condition characterized by eosinophilic, intranuclear inclusions in neurons of the central and peripheral nervous system. We report a boy with onset of disease manifestations at age 3 and death at age 9, who showed clinical and pathologic findings characteristic of NIID. The case is unique because of cardiomyopathy manifested 1 year prior to death. Postmortem findings confirmed the presence of cardiomyopathy and revealed intranuclear inclusions in myocytes. Neither nuclear inclusions in the myocardium nor cardiac involvement have previously been reported in NIID. 相似文献
7.
Uzan C Cortez A Dufournet C Fauvet R Siffroi JP Daraï E 《Virchows Archiv : an international journal of pathology》2004,445(6):603-609
Endometriosis is subsequent to the ability of endometrial glands to invade normal tissues. Matrix metalloproteinases (MMPs)—enzymes that mediate normal tissue turnover, including endometrial breakdown during menstruation—appear to be involved in this invasive process. Here, we examined the immunohistochemical expression of MMP-2, MMP-3, MMP-11, tissue inhibitor metalloproteinase (TIMP)-1 and TIMP-2 in endometrium from women with (n=9) or without endometriosis (n=18) in comparison with peritoneal (n=20), ovarian (n=20) and colorectal endometriosis (n=20). Women with endometriosis showed decreased endometrial MMP-2 expression compared with women without endometriosis (mean±SD positive cells: 24.3±28.3% and 69.3±12.1%), together with loss of MMP-3 expression (0 versus 17.5%±20.2). MMP-11, TIMP-1 and TIMP-2 expression was similar in the two groups. Endometrial MMP-2, -3 and -11 expression and TIMP-1 and -2 expression were similar in women with endometriosis and in those with peritoneal endometriosis. MMP-2, -3 and -11 expression was higher in colorectal endometriosis than in ovarian and peritoneal endometriosis. TIMP-2 expression was lower in colorectal endometriosis (P=0.0002) and ovarian endometriotic cysts (P=0.003) than in peritoneal endometriosis. TIMP-1 expression did not vary according to the location of endometriotic lesions. These results suggest that MMP-2 and -3 and TIMP-2 may be involved in the pathogenesis of endometriosis. Interestingly, MMP-2 and -3 overexpression was related to the infiltrative nature of endometriotic lesions, with possible sequential expression from peritoneal to colorectal endometriosis. 相似文献
8.
Cordeiro R Peñaloza ER Cardoso CF Cortez DB Kakinami E Souza JJ Souza MT Fernandes RA Guercia RF Adoni T 《Cadernos de saúde pública / Ministério da Saúde, Funda??o Oswaldo Cruz, Escola Nacional de Saúde Pública》1999,15(4):719-728
The aim of this paper was to evaluate the accuracy of data on death certificates for occupation and main cause of death. Measure of agreement was assessed comparing data from death certificates with those from both medical records and next-of-kin interviews, analyzing information for 552 residents of Botucatu, Southeast Brazil, who died in 1997. Kappa coefficients of 0.31 (95% C.I. 0. 29-0.34) and 0.76 (95% C.I. 0.75-0.76) were obtained for data on occupation and main cause of death, coded by a Brazilian two-digit classification and the three-digit ICD-10 classification, respectively. One can conclude that, although quality of the main cause of death is acceptable for pilot studies, data on occupation taken only from death certificates is not accurate enough to be used in epidemiological research. 相似文献
9.
Transforming growth factor-beta is a potent inhibitor of extracellular matrix degradation by cultured human mesangial cells 总被引:14,自引:0,他引:14
Baricos WH Cortez SL Deboisblanc M Xin S 《Journal of the American Society of Nephrology : JASN》1999,10(4):790-795
Accumulation of the glomerular extracellular matrix (ECM) is a pivotal event in the progression from acute glomerular injury to end-stage renal disease. Although enhanced ECM synthesis has been demonstrated to contribute to ECM accumulation, the role of decreased ECM degradation is largely unknown. It was previously shown that glomerular ECM degradation is mediated by a plasminogen activator (PA)/plasmin/matrix metalloproteinase 2 (MMP-2) cascade. However, little information is available regarding the factors that regulate the activity of this degradative cascade in normal or pathologic states. Transforming growth factor-beta1 (TGF-beta1) is shown here to be a potent inhibitor of ECM degradation by cultured human mesangial cells. Using human mesangial cells grown on thin films of 125I-labeled Matrigel, dose-dependent inhibition of ECM degradation in the presence of TGF-beta1 was observed, reaching >90% inhibition with 0.4 ng/ml TGF-beta1. Addition of anti-TGF-beta antibodies (4 microg/ml) in the absence of exogenous TGF-beta increased ECM degradation (1.8+/-0.2-fold versus controls, P<0.05). In contrast, platelet-derived growth factor, at concentrations up to 10 ng/ml, had no effect on ECM degradation. TGF-beta completely blocked the conversion of plasminogen to plasmin and markedly reduced the conversion of latent MMP-2 to active MMP-2. TGF-beta did not significantly alter the levels of tissue PA, total MMP-2, or tissue inhibitor of metalloproteinase-1, but did increase the levels of PA inhibitor- (1.8-fold, P<0.05), the major physiologic inhibitor of PA. These data document that TGF-beta is a potent inhibitor of ECM degradation by cultured human mesangial cells, and they suggest that decreased mesangial matrix degradation, caused by TGF-beta-mediated decreases in the activity of the PA/plasmin/MMP-2 cascade, may contribute to the glomerular matrix accumulation that occurs in progressive renal disease. 相似文献
10.