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Background: Wilson disease (WD) is an autosomal recessive inherited disorder of copper (Cu2+) metabolism, resulting in Cu2+ accumulation and liver and central nervous system toxicity. Oxidative stress may have a role in the pathogenesis of Wilson disease, but the roles of thiol/disulfide homeostasis and nitrosative stress have not been examined. The purpose of this study was to evaluate whether there is a modification in thiol/disulfide homeostasis and nitrosative stress in patients with Wilson disease.Methods: A total of 50 patients with Wilson disease (42 under drug treatment and 8 newly diagnosed patients with no drug treatment) and 50 healthy gender- and age-matched controls were enrolled for this study. Serum native thiol and total thiol levels were measured with a spectrophotometric method. The number of disulfide bonds and the related ratios were determined from these measurements. Serum nitric oxide (NO) and 3-nitrotyrosine (3-NT) levels were analyzed using chemiluminescence and ELISA assays, respectively.Results: The average native thiol levels of the patient group under drug treatment were found to be markedly higher than the levels of controls (P < .05). We detected no marked changes in total thiol and disulfide levels, and disulfide/total thiol, disulfide/native thiol, or native thiol/total thiol ratios between groups. We found significant elevations in NO levels in Wilson disease group before drug treatment, and the 3-NT levels in the Wilson disease groups prior to (P < .05) and under drug treatment (P < .01), when compared to controls.Conclusion: Our data are the first to show that nitrosative stress and thiol/disulfide homeostasis can contribute to the pathogenesis of Wilson disease.  相似文献   
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Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in the Trakya Region of Turkey.Methods:A panel of 20 monogenic diabetes related genes were screened in 61 cases. Illumina NextSeq550 system was used for sequencing. Pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses.Results:In 29 (47.5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. There were six different pathogenic/likely pathogenic variants and six different VUS which were novel.Conclusion:This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.  相似文献   
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The role of survivin that regulates the biological behavior of non-small-cell lung carcinoma (NSCLC) is still controversial. We aimed to investigate survivin expression in NSCLC and to define any correlation with expressions of p53, bcl-2, bax, apoptotic index (AI), tumor cell proliferation, clinicopathologic variables, and overall survival. Tumors of 63 patients with NSCLC were examined for expressions of survivin, p53, bcl-2, bax, and Ki-67 by immunohistochemistry. AI was also evaluated. Results for each antibody were correlated with each other, and with clinicopathologic variables including age, sex, histologic subtype, TNM (T: primary tumor, N: regional lymph node metastasis, M: distant metastasis) stage, lymph node status, smoking history, and prognosis. Nuclear survivin expression was inversely correlated with p53 expression (P = 0.04, r = - 0.367), and tumor stage (P = 0.03, r = - 0.273), and positively correlated with tumor cell proliferation (P = 0.009, r = 0.329). Cytoplasmic survivin expression positively correlated with smoking history (P = 0.02, r = 0.282). Survivin/bax ratio was inversely correlated with AI (r: - 0.004). By Kaplan-Meier analysis, TNM stage (P < or = 0.001), lymph node metastasis (P = 0.04), and Ki-67 index (P < or = 0.001) were associated with survival, whereas survivin was not. In multivariate analysis, only TNM stage was an independent predictor. Although survivin and other apoptosis-related protein expressions fail to predict the clinical outcome, the present findings suggest that survivin is involved in tumor cell apoptosis and proliferation and may play a role in critical steps of cancer progression in NSCLC.  相似文献   
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In this study, fibronectin and sialic acid levels were determined in human pituitary adenomas. The mean fibronectin and sialic acid levels for human pituitary adenomas were found to be 31.64 ± 15.82 μg/mg protein and 21.90 ± 9.82 μg/mg protein, respectively, versus 6.30 ± 2.96 μg/mg protein and 9.88 ± 2.81 μg/mg protein for the normal brain tissues. Fibronectin and sialic acid levels were significantly higher (P < 0.001) in human pituitary adenomas than the normal brain tissues. In human infiltrative and non-infiltrative pituitary adenomas, the mean fibronectin and sialic acid levels were found to be 40.87 ± 15.90 μg/mg protein, 27.59 ± 11.10 μg/mg protein and 22.40 ± 9.51 μg/mg protein, 16.21 ± 3.20 μg/mg protein, respectively. Fibronectin and sialic acid levels were slightly elevated (P < 0.05) in human infiltrative pituitary adenomas compared with non-infiltrative adenomas.  相似文献   
86.
A prospective randomized and double-blind study was performed to evaluate whether perioperative triiodothyronine administration has any effect on cardiovascular performance after coronary artery bypass surgery. Sixty patients were assigned to 2 groups of 30 each. When crossclamping ended, group A received an intravenous bolus of triiodothyronine, followed by infusion for 6 hours. Group B received a placebo. Serum triiodothyronine levels and hemo-dynamic parameters were serially measured. Mean postoperative cardiac index was slightly, but not significantly, higher in group A, whereas systemic vascular resistance was significantly lower in group A. Compared with preoperative values, serum triiodothyronine levels dropped significantly in group B at the end of cardiopulmonary bypass and remained low 12 hours postoperatively, while levels rose significantly in group A. No significant differences were detected between the groups in the incidence of arrhythmia, the need for inotropic support, intensive care unit stay, mortality, and morbidity. Perioperative administration of triiodothyronine increased cardiac output slightly and decreased systemic vascular resistance, but it had no effect on operative outcome. Routine use after coronary surgery is thus not recommended.  相似文献   
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BACKGROUND: Both general and nerve block anesthesia are effective for shoulder surgery. For outpatient surgery, it is important to determine which technique provides more efficient recovery. The authors' goal was to compare nerve block with general anesthesia with respect to recovery profile and patient satisfaction after rotator cuff surgery. METHODS: In this clinical trial, 50 consenting outpatients (aged 18-70 yr) were randomly assigned to receive either fast-track general anesthesia followed by bupivacaine (0.25%) wound infiltration or interscalene brachial plexus block (0.75% ropivacaine), each under standardized protocols. Blinded recovery room nurses assessed the need for pain treatment and rated patient eligibility for bypass of the phase 1 postanesthesia care unit and for discharge home. Patients were followed up for 2 weeks postoperatively. The primary outcome measures were postanesthesia care unit bypass and same-day discharge. Other same-day recovery outcomes included severity of and treatment for pain and time to ambulation. Postoperative outcomes at home included satisfaction with the anesthesia technique and absence of complications (at 2 weeks). RESULTS: Patients who received nerve block (vs. general anesthesia) bypassed the postanesthesia care unit more frequently (76 vs. 16%; P < 0.001), reported less pain, ambulated earlier, were ready for home discharge sooner (123 vs. 286 min; P < 0.001), had no unplanned hospital admissions (vs. 4 of 25 patients who underwent general anesthesia; P = 0.05), and were more satisfied with their care. No complications were reported in either treatment group. CONCLUSIONS: Nerve block anesthesia for outpatient rotator cuff surgery provides several same-day recovery advantages over general anesthesia.  相似文献   
89.
CONCLUSION: Using a transantral approach, we examined a new bypass of the maxillary artery (MA) to proximal middle cerebral artery (MCA). The caliber of the MA was suitable to provide sufficient blood flow. The length of the graft was shorter and it had a straighter course in the new technique than in previously described techniques. OBJECTIVE: To examine a new bypass of the MA to proximal MCA using a transantral approach as an alternative to other forms of anterior circulation bypass surgery. MATERIAL AND METHODS: The method was applied to five adult cadavers bilaterally. The MA and its branches were easily found after removal of the posterior sinus wall using a transantral approach. Then, a hole was created in the sphenoid bone 5-6 mm lateral to the posteroinferior edge of the superior orbital fissure extradurally. After the carotid and sylvian cisternae had been opened, the M2 segment of the MCA was exposed. The MA was transected just before the origin of the descending palatine artery branch. After opening the dura over the hole, the MA was passed through the hole to reach the intracranial cavity. The proximal side of the superficial temporal artery graft was anastomosed end-to-end with the MA and the distal side was anastomosed end-to-side with the M2 segment of the MCA. RESULTS: The mean caliber of the MA was 2.4+/-0.3 mm before the origin of the descending palatine artery branch. The mean caliber of the largest trunk of the M2 segment of the MCA was 2.3+/-0.3 mm. The average length of the graft was 24+/-3 mm.  相似文献   
90.
Three cases of cerebral salt wasting complicating tuberculous meningitis are described. Diagnosis was based on hyponatraemia associated with high urinary sodium excretion and inappropriately high urine output in the presence of dehydration. Treatment with fludrocortisone resulted in sodium and fluid homeostasis.  相似文献   
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