Complexity of multifactorial diseases as Parkinson's disease (PD) often complicate identifying causal genetic factors by traditional approaches such as positional cloning and candidate gene analyses. PD is etiologically and genetically complex disease and second most common neurodegenerative disorder after Alzheimer's disease. The most cases of PD are idiopathic and small growing subset of individuals have single gene defect as the cause. The main goal of this research was to identify the potential candidate genes for idiopathic PD by using biomedical discovery support system (BITOLA). For detecting the potential candidate genes for PD was used opened system of bioinformatics tool BITOLA. Data of chromosome location, tissue specific expression of potential candidate genes and their potential association with PD were obtained from Medline, Locus Link, Gene Cards and OMIM. By using BITOLA system is identified 17 genes as potential candidate genes for PD. The role of three genes (MAPT, PARK2, UCHL1) in PD were confirmed earlier. Discovering the novel candidate genes for multifactiorial diseases by using specially mentioned bioinformatics tool BITOLA could offer the new opportunity for researching genetics base of PD without using tissue samples of patients.
INTRODUCTION The recent studies of Parkinson's disease (PD) indicate that genetics and environmental factors may play an important role in developing of PD. Nowadays, the cell death and cell adhesion are pathogenetic mechanisms which could be related with PD. On the basis of relationship of those mechanisms with PD, the aim of this study was to identify new candidate genes for PD by integration of results of transcriptomics studies and results obtained by Biomedical Discovery Support System (BITOLA). MATERIALS AND METHODS For the detection of functional relationship between potential candidate gene and pathogenetic mechanisms associated with PD, we designed strategy of integration of results of transcriptomics studies with discovery approach in bibliographic data bases and BITOLA. Data of chromosome location, tissue-specific expression, function of potential candidate genes and their association with genetics disorders were obtained from Medline, Locus Link, Gene Cards and OMIM. RESULTS Integration and comparison of results obtained using the BITOLA system and analysis of transcriptomics studies identified six genes (MAPT, UCHL1, NSF, CDC42, PARK2 and GFPT1) that occur simultaneously in both group of results. The function of genes NSF, CDC42 and GFPT1 in the pathogenesis of PD has not been studied yet. CONCLUSIONS According to our result that aforementioned genes appeared in both groups of results and partially match the criteria set for the selection of candidate genes and their potential role in the development of PD, they should be tested by methods specifically intended for those three genes.
We present a case of 71 year old man operated in our clinic for ruptured abdominal aneurysm complicated with aorto-caval fistula, which was revealed during the surgery and successfully repaired by direct sutures within the aorta. This is the first record of the aorto-caval fistula that was so far noticed in our clinic. Urgent surgery and repair of the defect conneting aorta and vena cava by direct sutures within the aorta followed by ruptured aneurysm repair with tube graft is only way of treatment. Despite its infrequent occurrence, aorto-caval fistula should always be considered in any case of ruptured abdominal aneurysm.
Study comparing the results of coronary artery bypass grafting (CABG) with and without cardiopulmonary bypass (CPB) in the treatment of left main stenosis (LMS) has not yet been made in Bosnia and Herzegovina. The main aim of this study was to compare result of CABG performed on 176 patients, in Cardiovacular clinic of University Clinical Center in Tuzla from May 1999 to January 2005, by these two methods in LMS group of patients in the early and late postoperative period. The study was divided in two parts. In the first part, early postoperative period (30 days after the surgery) has been analysed, which encompasses results of CABG in 92 patients revascularisied without CPB (OPCAB) method (Group A), and 84 patients with LMS revascularisied with CPB method (ONCAB, CCAB) (Group B). In the second part, late postoperative period (one year after surgery) has been analysed. Patients from both groups were contacted and interviewed. Total number (276 versus 278), same as average number of grafts per patients (3.0 +/- 1.45 versus 3.31 +/- 0.86 p = 0.096), was insignificantly higher in group B. Perioperative and postoperative results revealed significant differences between two groups in reduced mechanical ventilation time (2.9 versus 7.3 hours, p = 0.039), less blood transfusion requirement (200.3 versus 419.9 ml, p = 0.035) and postoperative length of stay (7.4 versus 8.3 days). Inotrop support requirement was significantly higher in group B during the surgery (14.1% versus 29.8%, p = 0.019) and postoperative period longer than 12 hours (7.6 versus 22.6%; p = 0.009). Significant difference for mortality was noticed in early postoperative period in group A (0.0 versus 5.95%, p = 0.023). There was no significant difference for any of additional procedures (7.9 versus 7.8, p = 0.802), for major complications (8.0 versus 9.1%; p = 0.985) or for mortality (7.9 versus 5.2%; p = 0.692). Patients' survival after CABG for period of 12, 24, 36 and 48 months after surgery was not statistically significant (97.0 versus 96.1%, p = 0.802; 95.5 versus 96.1%, p = 0.857; 93.2 versus 94.8%, p = 0.913; 92.0 versus 94.8%, p = 0.692). This study revealed that OPCAB is effective and safe method for treatment of LMS, and there are certain advantages in comparison to classical method in short-term follow up, with no difference in long-term results.
Although superficial thrombophlebitis is a common disorder until recently it was considered as benign disorder. Also it is associated with varicose vein at legs and it was treated effectively with conservative methods, walking and non-steroid anti-inflammatory drugs. Aims of our investigation were: determine frequency of clinically silent deep vein thrombosis at legs in patient with and without superficial thrombophlebitis, determine correlation between superficial thrombophlebitis and deep vein thrombosis regardless of localization of superficial thrombophlebitis in superficial veins of legs and determine adequacy and safety vein phlebography in early diagnosis clinically silent deep vein thrombosis in patients with superficial thrombophlebitis. Using flebography in prospective study was evaluated incidence of clinically silent deep vein thrombosis in 92 patients with varicose veins at legs. By phlebograpy in patients with varicose veins at legs and superficial thrombophlebitis at legs and without clinical signs of DVT at legs of the 49 patients we detected DVT in 12 patients (24, 48%), in three male and nine female. We detected localization of DVT in ilijacofemoral junction in 4,08% patients, although localization of DVT in femoropopliteal region was observed in 6, 12% patients and localization in crural region was in 14.28% patients. Localization of DVT at legs was detected in iliac vein in 16.66% patients, in femoral vein in 25% patients, popliteal vein 8.33% patients, anterior tibial vein 16.66%, posterior tibial vein in 25% and crural veins 8.33% patients. Also we deduced significant difference between two group of patients (chi2 = 10, 76). Such result proves thesis that in most patients with superficial thrombophlebitis and varicose veins is possibility of developing of DVT.
Ova stranica koristi kolačiće da bi vam pružila najbolje iskustvo
Saznaj više