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排序方式: 共有593条查询结果,搜索用时 31 毫秒
1.
Marcondes C Fran?a Maria E Calcagnotto Jaderson C da Costa Iscia Lopes-Cendes 《Movement disorders》2006,21(7):1051-1053
Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members. 相似文献
2.
Donangelo I Marcos HP Araújo PB Marcondes J Filho PN Gadelha M Chimelli L 《Endocrine pathology》2005,16(1):53-62
The retinoblastoma gene (RB1) is a tumor-suppressor gene in chromosomal region 13q14.2. Its role in the pathogenesis of pituitary tumors has not been
fully clarified. Some studies have shown that losses in this chromosomal region are related to aggressive tumor behavior,
although the retinoblastoma protein (pRB) is still expressed. Conversely, lack of expression of pRB was observed in one fourth
of GH-secreting pituitary adenomas (GH-tumors). In order to further study the expression of pRB in GH-tumors, we evaluated
this protein in 49 tumors from patients with acromegaly (20 noninvasive, 25 invasive, and 4 with no information) and 8 normal
pituitaries using immunohistochemistry (IHC). Nuclear staining for pRB ranged from 0 to 90% (median 40%) in the tumors and
from 40 to 80% (median 58%) in normal pituitaries. In 10 tumors (20% of total) the adenomatous cells were negative (5 cases)
or had very low labeling (5 cases) for pRB. Sixty three percent (31/49) of the tumors showed staining in 10–80% of the cells
and in 16% (8/49) of the cases >80% of the adenomatous cells were positive for pRB. The expression of pRB was not different
in invasive and noninvasive tumors. In conclusion, pRB is underexpressed in a subgroup of GH-tumors, and this may represent
an early event in the pathogenesis of this tumor subtype. 相似文献
3.
Gontijo AM Marcondes JP Elias FN de Oliveira ML de Lima RO Salvadori DM de Camargo JL 《Environmental and molecular mutagenesis》2002,40(3):190-199
In order to determine if patients with a history of previous urothelial cell carcinoma (UCC) but with current normal urinary cytology have DNA damage in urothelial cells, the single-cell gel electrophoresis (comet) assay was conducted with cells obtained by urinary bladder washings from 44 patients (28 with a history of previous UCC). Increased DNA damage was observed in cytologically "normal" urothelial cells of patients with a history of UCC when compared with referents with no similar history and after correcting the data for smoking status and age (P < 0.018). Increased DNA damage also correlated with the highest tumor grade, irrespective of time or course of the disease after clinical intervention (Kendall tau correlation, 0.37, P = 0.016). Moreover, aneuploidy, as assessed by DNA content ratio (DCR; 75th/25th percentile of total DNA fluorescence of 50 comets/patient) was unaltered by smoking status, but increased with UCC grade: 1.39 +/- 0.12 (median +/- 95% confidence interval; referents); 1.43 +/- 0.11 (Grade I UCC; P = 0.264, against referents); 1.49 +/- 0.16 (Grade II UCC; P = 0.057); 1.57 +/- 0.16 (Grade III UCC; P = 0.003). Micronucleated urothelial cells (MNC) were also scored on Giemsa-stained routine cytological smears and were found not to correlate with DNA damage or DCR. MNC frequencies were higher for patients with a history of UCC and/or smoking than referents with neither history, but there was no statistical difference between groups. Taken together, these results suggest that the normal-appearing urothelium of patients resected for UCC still harbor genetically unstable cells. 相似文献
4.
Immune regulatory mechanisms influence early pathology in spinal cord injury and in spontaneous autoimmune encephalomyelitis
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Marcondes MC Furtado GC Wensky A Curotto de Lafaille MA Fox HS Lafaille JJ 《The American journal of pathology》2005,166(6):1749-1760
Injuries to the central nervous system (CNS) trigger an inflammatory reaction with potentially devastating consequences. In this report we compared the characteristics of the inflammatory response on spinal cord injury (SCI) caused by a stab wound between the T7 and T9 vertebrae and spontaneous experimental autoimmune encephalomyelitis (EAE). SCI and EAE were compared in two types of myelin basic protein Ac1-11-specific T-cell receptor transgenic mice: T/R+ mice harbor regulatory T cells, and T/R- mice lack regulatory T cells. Our results show that 8 days after SCI, T/R- mice developed a strong T-cell infiltrate in the spinal cord, with remarkable down-modulation of CD4 expression that was accompanied by a local increase in Mac-3+ and F4/80+ reactivity and diffuse local and distal astrogliosis. In contrast, T/R+ mice exhibited a modest increase in CD4+ cells localized to the site of injury, without CD4 down-modulation; focal astrogliosis was restricted to the site of the lesion, although Mac-3+ and F4/80+ cells were also present. Similarly to T/R- mice that underwent SCI, T cells displaying down-modulated CD4 expression were found in the CNS of older T/R- mice afflicted by spontaneous EAE. Overall, our results suggest that common mechanisms regulate T-cell accumulation in CNS lesions of different causes, such as mechanic lesion or autoimmune-mediated damage. 相似文献
5.
Ralf Berger Jurandir Marcondes Ribas Filho Osvaldo Malafaia Paulo Afonso Nunes Nassif Eduardo Nascimento Silva Alfredo Benjamin Duarte da Silva Milka Takejima Marcelo Augusto de Souza Pedro Henrique de Paula Mrio Rodrigues Montemor Netto Lucia de Noronha 《Acta cirúrgica brasileira / Sociedade Brasileira para Desenvolvimento Pesquisa em Cirurgia》2021,36(5)
6.
G Sperotto F R Carrazza E Marcondes 《The American journal of clinical nutrition》1977,30(9):1447-1456
A regimen for the treatment of diarrheal dehydration is presented. It was devised for use in conditions found in developing countries. Application to large number of patients has been successful. One of its characteristics is the infusion at the start of treatment of a larger amount of fluid than generally recommended. The advantages of magnesium supplementation and phosphate supplementation have been studied. Fecal electrolyte composition has been studied during recovery from diarrheal dehydration. Components of acid balance and generation have been measured with the "net acid" balance technique. 相似文献
7.
Leopoldo Magacho Ana M Marcondes Vital P Costa 《Ophthalmic surgery, lasers & imaging》2004,35(3):225-232
BACKGROUND AND OBJECTIVE: To evaluate the ability of the Topographic Scanning System (TopSS; Laser Diagnostic Technologies, San Diego, CA) to differentiate individuals with glaucoma from normal subjects. PATIENTS AND METHODS: The subjects were divided into two groups: primary open-angle glaucoma and normal. All individuals underwent a complete ophthalmic evaluation, a 24-2 full threshold Humphrey visual field evaluation, and a TopSS examination. Cut-off points were selected, receiver operator characteristic (ROC) curves were created, and sensitivity and specificity were calculated for individual TopSS parameters and combinations of variables using multivariate analysis. RESULTS: One hundred twelve patients with glaucoma and 88 normal individuals were enrolled in the study. The best TopSS individual parameters were: average disc diameter (sensitivity: 64%, specificity: 89%, area under ROC curve: 0.824), total disc area (sensitivity: 85%, specificity: 66%, area under ROC curve: 0.802), and cup area (sensitivity: 69%, specificity: 85%, area under ROC curve: 0.797). The multivariate analysis resulted in an area under the ROC curve of 0.91 (sensitivity: 90%, specificity: 81%). CONCLUSIONS: This preliminary report suggests that the use of a multivariate discriminant formula may enhance the ability to differentiate individuals with glaucoma from normal subjects with the TopSS, with high sensitivity and specificity. Further studies investigating a random population are needed to test the validity of this formula. 相似文献
8.
Renato Nicolás Hopp DDS MSc Douglas Cardoso de Siqueira Marcondes Sena‐Filho Jacks Jorge DDS MSc PhD 《Special care in dentistry》2013,33(3):150-153
Hereditary hemorrhagic telangiectasia (HHT) is an inherited mucocutaneous disease characterized by recurrent epistaxis, lesions on skin and oral mucosa, and arteriovenous malformations of the soft tissues. This article describes the treatment of a 64‐year‐old woman with a bleeding nodule, which was diagnosed as an arteriovenous malformation of the gingival mucosa. She was treated using sclerotherapy. Patients with HHT can be treated in the dental office and vascular malformations of these patients can be successfully managed with sclerotherapy, which eliminates the need for invasive surgical procedures and the possibility of postsurgical complications. 相似文献
9.
10.
Anelyssa D’Abreu MD PhD Marcondes C. França Jr. MD PhD Clarissa L. Yasuda MD PhD Bruno A. G. Campos MD Iscia Lopes‐Cendes MD PhD Fernando Cendes MD PhD 《Journal of neuroimaging》2012,22(3):285-291