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991.
Writer's cramp is a rare movement disorder of unknown etiology, in which a cramp is elicited primarily or exclusively with writing. We describe a patient with primary writer's cramp that was completely improved by drinking a small amount of alcohol. Although it is unclear how "alcohol" ameliorated the dystonia, this case suggests that alcohol might reverse the pathophysiologic changes in the entire basal ganglia circuit. In addition, we cannot rule out the possibility that the anxiolytic influence of alcohol may contribute to the beneficial effects on dystonia. 相似文献
992.
SET-NUP214 rearrangement is a recently recognized recurrent chromosomal translocation mostly observed in T-ALL. In order to characterize
this rare entity, we performed phenotypic and genetic characterization of SET-NUP214 rearrangement through an investigation of a series of 40 consecutive samples of adult T-ALL that was selected among 229 adult
ALL cases during 4 years in a single institution. Four cases (10%) of SET-NUP214 translocation were identified in our study. In all cases, diagnosis of T-ALL was established according to the World Health
Organization (WHO) classification, and clonal TCR rearrangements were found. The immunophenotypic markers were indicative
of the precursor nature of T lymphoblasts, and they expressed one or both of the myeloid-associated antigens (CD13, CD33).
Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved. Array-CGH demonstrated additional genomic imbalances in addition to deletion 9q34. The genomic breakpoint
sequencing identified breakpoints at SET intron 7 and NUP214 intron 17, and random nucleotide addition was found in two cases at the site of rearrangement. Our independently derived
data set from a single institution confirms previous findings of SET-NUP214 rearrangement, indicates the relatively high incidence of SET-NUP214 rearrangement in adult T-ALLs, and also demonstrates comprehensive clinical, phenotypic, and genetic characteristics of this
entity. Also, our report on genomic breakpoints demonstrates the homogeneity in the localization of the genomic breakpoints
at 9q34. Concurrent chromosomal aberrations identified in this study should provide further areas of interest in investigation
of SET-NUP214-mediated leukemogenesis. 相似文献
993.
Cho BS Lim JY Yahng SA Lee SE Eom KS Kim YJ Chung NG Jeong DC Lee S Kim HJ Cho SG Kim DW Lee JW Min WS Park CW Min CK 《Annals of hematology》2012,91(3):439-448
IL-17 is involved in inducing and mediating pro-inflammatory responses. The association of IL-17 with tumor growth or graft-versus-host disease (GVHD) has become a subject of controversy. We hypothesized that serum IL-17 (sIL-17) levels during the peri-transplant period may affect alloreactive responses after allogeneic stem cell transplantation (SCT). sIL-17 levels of 95 patients with leukemia who had undergone myeloablative allogeneic SCT were measured using ELISA before conditioning and on day?0, +7, and +14 after transplantation. With a median follow-up of 17?months, the overall survival, disease-free survival, non-relapse mortality, and relapse incidence were 70.9%, 66.3%, 10.3%, and 23.4%, respectively. Ten patients relapsed within 180?days (early relapse, 10.5%) post-transplant. The cumulative incidence of acute GVHD over grade II and chronic GVHD was 55.8% and 69.0%, respectively. Analyses using repeated measures of ANOVA and mean values of sIL-17 revealed that patients relapsed within 180?days had higher sIL-17 levels, whereas no association existed between sIL-17 levels and other clinical outcomes, including acute GVHD. Receiver operating characteristic curve analyses also revealed that sIL-17 levels were available for the prediction of early relapse and that patients with higher sIL-17 levels at each time point had a significantly higher early relapse. Multivariate analyses and subgroup analyses with only standard disease status suggest the association of sIL-17 levels with subsequent early relapse independent of disease status at transplantation. This study is the first one demonstrating the early change in sIL-17 during the peri-transplant period and the association with early relapse in humans. 相似文献
994.
995.
996.
Manga F Lim CS Mangena L Guest M 《European journal of gastroenterology & hepatology》2012,24(1):95-101
Abdominal pain with a discoloured dialysate in a patient on peritoneal dialysis (PD) is usually attributed to infective peritonitis. Although acute pancreatitis (AP) is not usually a complication of end-stage renal disease, some studies suggest an increased risk especially in patients on PD. We report a case of idiopathic AP in a 41-year-old female on PD who presented with abdominal pain, fever, vomiting and a clear dark dialysate. Initial diagnosis of PD-associated infective peritonitis was made but dialysate cultures proved negative. Serum amylase showed a mild rise and computed tomography revealed necrotising pancreatitis. No common risk factors for AP were identified and she was successfully treated with conservative therapy. A literature review was carried out using a PubMed search with the words 'acute pancreatitis and peritoneal dialysis'. The literature search found a total of 94 cases of AP in the setting of PD. In more than a quarter, no cause for AP was found. Serum amylase was normal in 12.8% of episodes. Complications developed in 25 cases, and 28 patients died from the condition. Therefore, AP can be a rare, but serious complication of PD with a high mortality and must be considered in the differential diagnosis of abdominal pain in a PD patient. 相似文献
997.
Noninvasive parameters and hepatic fibrosis scores in children with nonalcoholic fatty liver disease
AIM: To evaluate the noninvasive parameters and hepatic fibrosis scores in obese children with nonalcoholic fatty liver disease (NAFLD).METHODS: A total of 77 children diagnosed with NAFLD via liver biopsy were included and divided into 2 subgroups according to the histopathologic staging of hepatic fibrosis: mild (stage 0-1) vs significant fibrosis (stage 2-4). Clinical and laboratory parameters were evaluated in each patient. The aspartate aminotransferase (AST)/alanine aminotransferase (ALT) ratio, AST/platelet ratio index (APRI), PGA index, Forns index, FIB-4, NAFLD fibrosis score, and pediatric NAFLD fibrosis index (PNFI) were calculated.RESULTS: No clinical or biochemical parameter exhibited a significant difference between patients with mild and significant fibrosis. Among noninvasive hepatic fibrosis scores, only APRI and FIB4 revealed a significant difference between patients with mild and significant fibrosis (APRI: 0.67 ± 0.54 vs 0.78 ± 0.38, P = 0.032 and FIB4: 0.24 ± 0.12 vs 0.31 ± 0.21, P = 0.010). The area under the receiving operating characteristic curve of FIB4 was 0.81, followed by Forns index (0.73), APRI (0.70), NAFLD fibrosis score (0.58), AST/ALT ratio (0.53), PGA score (0.45), and PNFI (0.41).CONCLUSION: APRI and FIB4 might be useful noninvasive hepatic fibrosis scores for predicting hepatic fibrosis in children with NAFLD. 相似文献
998.
Lim JY Yoon SO Seol SY Hong SW Kim JW Choi SH Cho JY 《World journal of gastroenterology : WJG》2012,18(30):4037-4043
AIM: To investigate M2 isoform of pyruvate kinase (PKM2) expression in gastric cancers and evaluate its potential as a prognostic biomarker and an anticancer target.METHODS: All tissue samples were derived from gastric cancer patients underwent curative gastrectomy as a primary treatment. Clinical and pathological information were obtained from the medical records. Gene expression microarray data from 60 cancer and 19 non-cancer gastric tissues were analyzed to evaluate the expression level of PKM2 mRNA. Tissue microarrays were constructed from 368 gastric cancer patients. Immunohistochemistry was used to measure PKM2 expression and PKM2 positivity of cancer was determined by proportion of PKM2-positive tumor cells and staining intensity. Association between PKM2 expression and the clinicopathological factors was evaluated and the correlation between PKM2 and cancer prognosis was evaluated.RESULTS: PKM2 mRNA levels were increased more than 2-fold in primary gastric cancers compared to adjacent normal tissues from the same patients (log transformed expression level: 7.6 ± 0.65 vs 6.3 ± 0.51, P < 0.001). Moreover, differentiated type cancers had significantly higher PKM2 mRNA compared to undifferentiated type cancers (log transformed expression level: 7.8 ± 0.70 vs 6.7 ± 0.71, P < 0.001). PKM2 protein was mainly localized in the cytoplasm of primary cancer cells and detected in 144 of 368 (39.1%) human gastric cancer cases. PKM2 expression was not related with stage (P = 0.811), but strongly correlated with gastric cancer differentiation (P < 0.001). Differentiated type cancers expressed more PKM2 protein than did the undifferentiated ones. Well differentiated adenocarcinoma showed 63.6% PKM2-positive cells; in contrast, signet-ring cell cancers showed only 17.7% PKM2-positive cells. Importantly, PKM2 expression was correlated with shorter overall survival (P < 0.05) independent of stage only in signet-ring cell cancers.CONCLUSION: PKM2 expression might be an adverse prognostic factor for signet-ring cell carcinomas. Its function and potential as a prognostic marker should be further verified in gastric cancer. 相似文献
999.
Song MJ Bae SH Yoo IeR Park CH Jang JW Chun HJ Choi BG Lee HG Choi JY Yoon SK 《World journal of gastroenterology : WJG》2012,18(25):3215-3222
AIM: To investigate the correlation of 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET) with clinical features and the prediction of treatment response.METHODS: A total of 83 hepatocellular carcinoma (HCC) patients undergoing 18F-FDG PET before transarterial chemolipiodolization with systemic chemo-infusion between October, 2006 and May, 2009 were retrospectively enrolled. The patients included 68 men and 15 women (mean age, 60 ± 10.7 years). The effect of 18F-FDG-monitored PET uptake on clinical features and on the evaluated treatment response was ascertained with modified Response Evaluation Criteria in Solid Tumors. The PET parameters of maximal standardized uptake value of the tumor (Tsuvmax), the ratio of the tumor maximal standardized uptake value (SUV) to the liver maximal SUV (Tsuvmax/Lsuvmax) and the ratio of tumor maximal SUV to the liver mean SUV (Tsuvmax/Lsuvmean) were tested as predictive factors.RESULTS: Among the 3 SUV parameters, the Tsuvmax/Lsuvmean ratio (cutoff value of 1.90) was significantly associated with tumor burden including tumor size, tumor number, α-fetoprotein levels and tumor stage (P < 0.001, P = 0.008, P = 0.011, P < 0.001, respectively). The objective response rates in patients with a high SUV ratio (≥ 1.90) were significantly better than those with a low SUV ratio (< 1.90) (P = 0.020). The overall survival rates of patients exhibiting a low Tsuvmax/Lsuvmean ratio (< 1.90) and those with a high SUV ratio (≥ 1.90) was 38.2 and 10.3 mo, respectively (P < 0.01). However, the time to progression showed no significant difference between the groups (P = 0.15).CONCLUSION: 18F-FDG PET can be an important predictor of HCC treatment. In particular, the Tsuvmax/Lsuvmean ratio (cutoff value of 1.90) can provide useful information in treatment prognosis for HCC patients treated with locoregional therapy. 相似文献
1000.
Yu YH Sohn JH Kim TY Jeong JY Han DS Jeon YC Kim MY 《World journal of gastroenterology : WJG》2012,18(18):2291-2294
Hepatic artery pseudoaneurysm (HAP) is a very rare disease but in cases of complication, there is a very high mortality. The most common cause of HAP is iatrogenic trauma such as liver biopsy, transhepatic biliary drainage, cholecystectomy and hepatectomy. HAP may also occur with complications such as infections or inflammation associated with septic emboli. HAP has been reported rarely in patients with acute pancreatitis. As far as we are aware, there is no report of a case caused by acute idiopathic pancreatitis, particularly. We report a case of HAP caused by acute idiopathic pancreatitis which developed in a 61-year-old woman. The woman initially presented with acute pancreatitis due to unknown cause. After conservative management, her symptoms seemed to have improved. But eight days after admission, abdominal pain abruptly became worse again. Abdominal computed tomography (CT) was rechecked and it detected a new HAP that was not seen in a previous abdominal CT. Endoscopic retrograde cholangiopancreatography (ERCP) was performed because of a suspicion of hemobilia as a cause of aggravated abdominal pain. ERCP confirmed hemobilia by observing fresh blood clots at the opening of the ampulla and several filling defects in the distal common bile duct on cholangiogram. Without any particular treatment such as embolization or surgical ligation, HAP thrombosed spontaneously. Three months after discharge, abdominal CT demonstrated that HAP in the left lateral segment had disappeared. 相似文献