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131.
132.
Central nervous system manifestations in VHL: genetics,pathology and clinical phenotypic features 总被引:6,自引:0,他引:6
Gläsker S 《Familial cancer》2005,4(1):37-42
This review focuses on CNS hemangioblastomas in von Hippel–Lindau (VHL) disease. The pathogenesis of these lesions remains unclear to date; however, biallelic inactivation of the VHL tumor suppressor gene is thought to be an important step. These benign tumors occur frequently in patients with VHL disease and produce symptoms by mass effect either by the tumor itself or an accompanying cyst or edema. Furthermore, cases of spontaneous hemorrhage have been described. Genetic testing for VHL germline mutations is recommended in all patients with hemangioblastoma and yearly screening, including MRI of the brain and spine, is recommended for all VHL disease patients. Treatment of these tumors is mainly surgical. In general, surgery is indicated in symptomatic hemangioblastomas and eventually also in asymptomatic tumors that exhibit radiographic progression. However, since most VHL disease patients harbor multiple lesions, a careful individual decision must be made in each case. The tumors can usually be completely removed by dissection in the plane between tumor and CNS tissue and coagulating and cutting of the numerous feeding vessels with low power. As long as consequent yearly surveillance is performed and lesions are adequately treated in time, the prognosis of CNS hemangioblastomas in VHL disease is good. Preoperative neurological deficit, however, will not improve after surgery in most patients. Local tumor recurrences are rare. 相似文献
133.
Gobbo-Neto L Santos MD Kanashiro A Almeida MC Lucisano-Valim YM Lopes JL Souza GE Lopes NP 《Planta medica》2005,71(1):3-6
The Brazilian medicinal plant Lychnophora ericoides is commercially available as an analgesic and anti-inflammatory agent. The phytochemical investigation of the leaf polar extract yielded 6,8-di-C-beta-glucosylapigenin (1) and the new compound 6,8-di-C-beta-glucosylchrysin (2). 6,8-Di- C-beta-glucosylapigenin (1) showed significant anti-inflammatory activity in the carrageenan-induced rat paw edema. We did not observe any statistical difference between the two compounds (1 and 2) in inhibiting chemiluminescence in opsonized zymosan-stimulated polymorphonuclear leukocytes, suggesting that the anti-inflammatory property of 6,8-di- C-beta-glucosylapigenin (1) is not related to its antioxidant activity. 相似文献
134.
BACKGROUND: Intraductal papillary mucinous tumors (IPMT) account for 5% of pancreatic neoplasms. Preoperative identification is important because of their frequent multifocal or diffuse involvement in pancreatic ducts, which makes extensive surgery necessary even in benign cases. To the authors' knowledge, the cytologic features of this entity in fine-needle aspiration biopsy (FNAB) specimens have seldom been described and are poorly standardized. METHODS: Eleven consecutive cases of surgically proven IPMT with previous endoscopic ultrasonography (EUS)-guided FNAB were collected for retrospective analysis. EUS-FNAB had been performed with on-site attendance of a cytopathologist in all cases. Macroscopic and microscopic appearance of mucin, cellular type and arrangement, presence of nuclear grooves, and degree of nuclear atypia were recorded. RESULTS: Final diagnosis was benign IPMT (B) in four cases, borderline IPMT (Bo) in two cases, malignant IPMT (M) in one case, and IPMT associated with invasive carcinoma (Ca) in four. Retrospective analysis found moderate to high levels of extracellular mucin in 10 of the 11 cases. The other case (one Ca) showed a small amount of thick mucin. In all cases, epithelial cells were identified, although cellularity was very low in four cases (three B and one Bo). Atypia was absent in two cases (two B) slight in two cases (two B), moderate in three cases (one Bo and two Ca), and severe in four cases (one Bo, one M, and two Ca). Mucinous epithelium was found in nine cases and nonmucinous epithelium in five cases (one Bo and four Ca). Papillary structures were observed in five cases (two Bo and three Ca), sheets in eight cases (four B, one Bo, one M, and two Ca), single atypical cells in five cases (one Bo and four Ca), irregular clusters in three cases (one Bo and two Ca), and nuclear grooves in two cases (one B and one Bo). CONCLUSIONS: The most common features of IPMT were extracellular mucin and sheets of mucinous epithelium. Papillae and nuclear grooves were not consistently found. Nonmucinous epithelium, severe atypia, single atypical cells, and irregular clusters indicated a high probability of malignant transformation. Even in the absence of atypia, a clinically significant diagnostic orientation can be established in most cases on the basis of the characteristic cytologic picture. 相似文献
135.
Balogh K Hunyady L Patócs A Valkusz Z Bertalan R Gergics P Majnik J Toke J Tóth M Szucs N Gláz E Futo L Horányi J Rácz K Tulassay Z 《Orvosi hetilap》2005,146(43):2191-2197
Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing). Using this method, the authors identified disease-causing MEN1 gene mutations in 9 probands (small deletions in 2 cases, insertion in 2 cases, nonsense mutations in 2 cases and missense mutations in 3 cases). Of the 9 mutations, 4 proved to be novel mutation not reported in the literature. Family screening indicated de novo mutations in 2 probands. In addition to mutations, several sequence polymorphisms were also detected. The authors conclude that one of the major advantages of genetic screening in families with MEN1 syndrome was the identification of family members carrying the mutation who should be regularly screened for disease manifestations and those not carrying the mutation in whom clinical screening is unnecessary. Also, genetic screening may be useful in cases when MEN1 syndrome is suspected, but the clinical manifestations do not fully establish the diagnosis of MEN1 syndrome. 相似文献
136.
OBJECTIVE: To identify predictors of and groups vulnerable to cocaine use in prison. METHODS: We selected 376 inmates with history of cocaine use in prison (cases) and 938 inmates with no history of drug use (controls) serving sentences in the Rio de Janeiro State prison system in 1998. The analysis included exposure variables divided into three hierarchical levels: distal, intermediate, and proximal. We performed bivariate analysis using logistic regression and multivariate analysis using hierarchized regression; results are given in odds ratios. RESULTS: Variables associated with cocaine use in prison in the proximal level were use of alcohol and marijuana and duration of imprisonment in years. The effect of social vulnerability variables (distal level) was intermediated by variables in the next levels. Considering only the distal and intermediate levels, use of marijuana prior to imprisonment (OR=4.50; 95% CI: 3.17-6.41) and offence in order to obtain drugs (OR=2.96; 95% CI: 1.79-4.90) showed the strongest association with the outcome. For every additional year spent in prison, the odds of cocaine use increase by 13% (OR=1.13; 95% CI: 1.06-1.21). CONCLUSIONS: Considering the distal and intermediate levels, use of marijuana prior to imprisonment and perpetration of offence in order to obtain drugs were the variables with greatest predictive value. The final model showed alcohol and marijuana use in prison and duration of imprisonment as important predictors of the outcome. The prison environment appears as a factor stimulating drug use. 相似文献
137.
Araújo MA Leitão Gda C 《Cadernos de saúde pública / Ministério da Saúde, Funda??o Oswaldo Cruz, Escola Nacional de Saúde Pública》2005,21(2):396-403
Access to healthcare services is one of the important aspects of the Unified National Health System in Brazil, and the supply and management of such services is the responsibility of municipalities. This study focuses on difficulties faced by men with sexually transmitted diseases (STDs) in accessing appointments for treatment. This was a qualitative study of men treated at an STD clinic in Fortaleza, Ceará State, Brazil, in November 2003, using content analysis technique and interpretation of interviews, focusing on access as the category. Men with STDs encountered extensive difficulty in accessing medical appointments, even when they used different strategies for this purpose. Scheduling of services is incompatible with patients' available time. At the primary care level, the supply of appointments for STDs scarcely exists. More investment is needed in the Unified National Health System in order to improve access to appointments for men with STDs, and the supply of services should take the population's demand into account. 相似文献
138.
Magnetic resonance signal alterations in the acute onset of heterotopic ossification in patients with spinal cord injury 总被引:1,自引:0,他引:1
The purpose of our study was to evaluate magnetic resonance (MR) signal characteristics of acutely forming heterotopic ossification (HO) in paralyzed patients. Fourteen patients with spinal cord injury (female n=2, male n=12, mean age 38.3 years) and acute onset of radiographically proven HO had contrast-enhanced 1.5-T MRI within 13.4±18.3 days of clinical onset of symptoms. MR signal alterations of affected muscles, fascia, subcutaneous tissue, skin and adjacent bone were evaluated. A diffuse T2-hyperintense signal of multiple muscle groups was seen in all patients (bilateral in 12) involving quadriceps (n=13, 93%), adductors (n=13, 93%) and iliopsoas (n=12, 86%) with contrast enhancement in n=11 (79%), n=8 (57%) and n=8 (57%) patients. All patients had nonenhancing areas (mean size 2×3.5×5.8 cm) within diffusely enhancing muscles. HO formation occurred around these nonenhancing areas in four patients with computed tomography follow-up. Other MR findings included fascial edema (n=14, 100%), fascial enhancement (n=13, 93%), subcutaneous edema (n=13, 93%), subcutaneous enhancement (n=12, 86%), bone marrow edema (n=5, 36%), and joint effusion (n=12, 86%). MRI reveals mostly bilateral edema and enhancement of muscles, fascia and subcutaneous tissue during acute onset of HO. HO develops in the periphery of well-defined areas of no enhancement. 相似文献
139.
Harendza S Hübner CA Gläser C Burdelski M Thaiss F Hansmann I Gal A Stahl RA 《Journal of nephrology》2005,18(3):312-317
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation: Alagille syndrome is an autosomal dominant disorder involving liver, heart, eyes, face, skeleton, and other organs. Various renal abnormalities have also been associated with Alagille syndrome, whereas renal vascular hypertension combined with renal insufficiency has been reported in several cases. We describe a patient with a novel frameshift mutation (c.1880_1881insA) in the JAG1 gene who presented with chronic renal failure and hypertension but without evidence of renal vascular or aortic stenosis. The patient's chronic renal failure had persisted for several years. His high blood pressure seemed to be due to renal parenchymal changes and was treated with ACE-inhibitors without worsening his renal function. This novel JAG1 mutation revealed great variability of the phenotype. The patient's daughter suffered from severe paucity of intrahepatic bile ducts and received a liver transplant at the age of two years. These findings are discussed including a review of the literature. 相似文献
140.
Improved immune responses to influenza vaccination in the elderly using an immunostimulant patch 总被引:4,自引:0,他引:4
The elderly have greater morbidity and mortality due to influenza, and respond poorly to influenza vaccination compared to younger adults. This study was designed to determine if the adjuvant heat-labile enterotoxin from Escherichia coli (LT), administered as an immunostimulant (IS) patch on the skin with influenza vaccination, improves influenza immune responses in the elderly. Three weeks following vaccination, hemagglutination inhibition (HAI) responses in LT IS patch recipients showed improvement over those of elderly receiving vaccine alone, as demonstrated by significance or trends in fold rise [A/Panama (P = 0.004), A/New Caledonia (P = 0.09)], seroconversion [A/New Caledonia (63% versus 40%, P = 0.01), A/Panama (54% versus 36%, P = 0.08)] and seroprotection [26%, 20% and 16% greater for the patch group for A/New Caledonia, A/Panama and B/Shandong strains, respectively]. The data suggest that an LT IS patch may further enhance influenza vaccine immune responses in the elderly. 相似文献