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排序方式: 共有240条查询结果,搜索用时 31 毫秒
1.
Najmabadi H Nishimura C Kahrizi K Riazalhosseini Y Malekpour M Daneshi A Farhadi M Mohseni M Mahdieh N Ebrahimi A Bazazzadegan N Naghavi A Avenarius M Arzhangi S Smith RJ 《American journal of medical genetics. Part A》2005,(2):132-137
Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe. 相似文献
2.
Introduction
REM sleep deprivation (SD) decreases tolerance of the rat heart to ischemia-reperfusion (IR) injury; the underlying mechanisms, however, are unknown. This study aimed at determining whether changes in iNOS, Bax, and Bcl-2 gene expression are involved in this detrimental effect.Method
SD was induced by flowerpot technique for a period of 4 days. This method is simple and able to induce sleep fragmentation which occurs as one of the sleep disorder symptoms in clinical conditions. The hearts of control and SD rats were perfused in Langendorff apparatus and subjected to 30 min ischemia, followed by 90 min reperfusion. The hemodynamic parameters (left ventricular developed pressure (LVDP), and ± dp/dt), NOx (nitrite + nitrate) level, infarct size, and mRNA expression of iNOS, Bax, and Bcl-2 were measured after IR.Results
SD rats had lower recovery of post-ischemic LVDP (32.8 ± 2.5 vs. 51.5 ± 2.1 mmHg; P < 0.05), + dp/dt (1555 ± 66 vs. 1119.5 ± 87 mmHg/s; P < 0.05) and ? dp/dt (1437 ± 65 vs. 888 ± 162 mmHg/s; P < 0.05). SD rats also had higher NOx levels (41.4 ± 3.1 vs. 22.4 ± 3.6 μmol/L; P < 0.05) and infarct size (64.3 ± 2.3 vs. 38.3 ± 1.6%; P < 0.05) after IR, which along with LVDP, ± dp/dt restored to near normal status in the presence of aminoguanidine, a selective iNOS inhibitor. Following IR, expression of iNOS and Bax increased and Bcl-2 decreased (502, 372, and 54%, respectively) in SD rats; whereas in the presence of aminoguanidine, expression of iNOS and Bax significantly decreased and Bcl-2 increased (165, 168, and 19%, respectively).Conclusion
Higher expression of iNOS and subsequent increase in apoptosis in the hearts after IR may contribute to less tolerance to myocardial IR injury in SD rats.3.
Sajad Arshadi Salar Bakhtiyari Karimeh Haghani Ahmad Valizadeh 《Osong Public Health and Research Perspectives》2015,6(2):87-93
Objective
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia condition resulting from defective insulin secretion or resistance insulin action, or both. The purpose of this study was to evaluate the effect of 6 weeks swimming training and Trigonella foenum-graecum seed (fenugreek) extract, alone and in combination, on plasma glucose and cardiac antioxidant enzyme activity of streptozotocin-induced diabetic rats.Methods
Fifty male Wistar rats were divided into five groups: diabetic control (DC, n = 8); healthy control (HC, n = 11); swimming training (S, n = 11); swimming training + fenugreek seed extract (1.74 g/kg body weight; SF1, n = 11); and swimming training + fenugreek seed extract (0.87 g/kg body weight; SF2, n = 9). Streptozotocin was used for the induction of diabetes. Results were analyzed using one-way analysis of variance followed by Tukey test.Results
In comparison with the DC group, all groups exhibited a significant decrease in body weight (p < 0.05), except for the HC group. SF1 and HC groups showed significant decreases in plasma glucose levels compared with the DC group (p < 0.05). S, SF1, SF2, and HC groups showed significant elevations in cardiac antioxidant enzymes activity in comparison with the DC group.Conclusion
The results indicated that the combination of endurance swimming training and fenugreek seed extract can significantly reduce the plasma glucose levels and increase cardiac antioxidant enzymes activity in diabetic rats. Our findings suggest that this combination could be useful for the treatment of hyperglycemia and cardiac oxidative stress induced by diabetes mellitus. 相似文献4.
5.
Nicolas Ghczy Kai Sasaki Makoto Yoshimoto Sajad Pour-Esmaeil Martin Krger Pasquale Stano Peter Walde 《RSC advances》2020,10(32):18655
Enzyme-catalysed cascade reactions in flow-through systems with immobilised enzymes currently are of great interest for exploring their potential for biosynthetic and bioanalytical applications. Basic studies in this field often aim at understanding the stability of the immobilised enzymes and their catalytic performance, for example, in terms of yield of a desired reaction product, analyte detection limit, enzyme stability or reaction reproducibility. In the work presented, a cascade reaction involving the two enzymes bovine carbonic anhydrase (BCA) and horseradish peroxidase (HRP) – with hydrogen peroxide (H2O2) as HRP “activator” – was first investigated in great detail in bulk solution at pH = 7.2. The reaction studied is the hydrolysis and oxidation of 2′,7′-dichlorodihydrofluorescein diacetate (DCFH2-DA) to 2′,7′-dichlorofluorescein (DCF), which was found to proceed along two reaction pathways. This two-enzyme cascade reaction was then applied for analysing the performance of BCA and HRP immobilised in glass fiber filters which were placed inside a filter holder device through which a DCFH2-DA/H2O2 substrate solution was pumped. Comparison was made between (i) co-immobilised and (ii) sequentially immobilised enzymes (BCA first, HRP second). Significant differences for the two arrangements in terms of measured product yield (DCF) could be explained based on quantitative UV/vis absorption measurements carried out in bulk solution. We found that the lower DCF yield observed for sequentially immobilised enzymes originates from a change in one of the two possible reaction pathways due to enzyme separation, which was not the case for enzymes that were co-immobilised (or simultaneously present in the bulk solution experiments). The higher DCF yield observed for co-immobilised enzymes did not originate from a molecular proximity effect (no increased oxidation compared to sequential immobilisation).A cascade reaction catalysed by bovine carbonic anhydrase (BCA) and horseradish peroxidase (HRP) proceeds over two possible pathways, which explains differences in product formation for differently immobilised enzymes in flow-through reactions. 相似文献
6.
Pilonidal sinus is a chronic intermittent disease, usually involving the sacrococcygeal area. This study was undertaken to compare the results of rhomboid excision followed by Limberg flap with that of excision and primary closure in patients with primary pilonidal sinus. A total of 120 patients with pilonidal disease were randomly divided into group A who underwent excision and primary closure (n = 60) and group B who underwent the rhomboid transposition flap procedure (n = 60). Length of hospital stay and postoperative complications in two groups were compared. Duration of hospital stay (P < 0.001) and time to resumption of work (P < 0.001) was less for group B, and postoperative complications were fewer in group B (P < 0.05). During follow-up of 2 years, no recurrence was detected in patients in group B, whereas five patients developed recurrence in group A (P = 0.02). Limberg flap procedure is better than the simple excision and primary closure for the management of sacrococcygeal pilonidal disease. 相似文献
7.
5‐Azacitidine Monotherapy Followed by Related Haploidentical Hematopoietic Stem Cell Transplantation Achieves Durable Remission in a Pediatric Patient With Acute Undifferentiated Leukemia Refractory to High‐Dose Chemotherapy
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Veronika Polishchuk MD Sajad Khazal MD Giorgi Berulava MD Michael Roth MD Kris M. Mahadeo MD 《Pediatric blood & cancer》2016,63(6):1111-1112
Patients with acute leukemias of undifferentiated lineage (AUL) generally have guarded prognosis. Here, we describe the first reported pediatric patient with AUL refractory to high‐dose chemotherapy who achieved clinical remission with ALL maintenance therapy and 5‐azacitidine. His induction remission was followed by consolidation with reduced toxicity haploidentical hematopoietic stem cell transplant (HSCT). At 9 months post‐HSCT, the patient is alive and in remission. This combination therapy of remission induction with ALL maintenance therapy and 5‐azacitidine and consolidation with reduced toxicity haploidentical HSCT is novel and promising for patients who lack conventional donors and are not candidates for myeloablative therapy. 相似文献
8.
Sajad Jeddi Amir Nezami Asl Alireza Asgari Asghar Ghasemi 《Arquivos brasileiros de cardiologia》2016,106(1):41-48
Background
Sleep deprivation (SD) is strongly associated with elevated risk for cardiovascular disease.Objective
To determine the effect of SD on basal hemodynamic functions and tolerance to myocardial ischemia-reperfusion (IR) injury in male rats.Method
SD was induced by using the flowerpot method for 4 days. Isolated hearts were perfused with Langendorff setup, and the following parameters were measured at baseline and after IR: left ventricular developed pressure (LVDP); heart rate (HR); and the maximum rate of increase and decrease of left ventricular pressure (±dp/dt). Heart NOx level, infarct size and coronary flow CK-MB and LDH were measured after IR. Systolic blood pressure (SBP) was measured at start and end of study.Results
In the SD group, the baseline levels of LVDP (19%), +dp/dt (18%), and -dp/dt (21%) were significantly (p < 0.05) lower, and HR (32%) was significantly higher compared to the controls. After ischemia, hearts from SD group displayed a significant increase in HR together with a low hemodynamic function recovery compared to the controls. In the SD group, NOx level in heart, coronary flow CK-MB and LDH and infarct size significantly increased after IR; also SD rats had higher SBP after 4 days.Conclusion
Hearts from SD rats had lower basal cardiac function and less tolerance to IR injury, which may be linked to an increase in NO production following IR. 相似文献9.
Proietti Riccardo Dowd Rory Gee Lim Ven Yusuf Shamil Panikker Sandeep Hayat Sajad Osman Faizel Patel Kiran Salim Handi Aldhoon Bashar Foster Will Merghani Ahmed Kuehl Michael Banerjee Prithwish Lellouche Nicolas Dhanjal Tarvinder 《Journal of interventional cardiac electrophysiology》2021,62(3):519-529
Journal of Interventional Cardiac Electrophysiology - Substrate mapping has highlighted the importance of targeting diastolic conduction channels and late potentials during ventricular tachycardia... 相似文献
10.