In tro duc tion: The re ce nt stu dies of Par kin son's di sea se (PD) in di ca te that ge ne ti cs and en vi ron men tal fac to rs may play an im por ta nt ro le in developi ng of PD. Nowa days, the ce ll dea th and ce ll ad he sion are pat ho genetic mec ha nis ms whi ch cou ld be re la ted wi th PD. On the ba sis of re la tionship of tho se mec ha nis ms wi th PD, the aim of this stu dy was to iden ti fy new can di da te genes for PD by in teg ra tion of re sul ts of tran scrip to mi cs studies and re sul ts ob tai ned by Bio me di cal Dis co ve ry Sup po rt System (BITOLA). Ma te ria ls and met ho ds: For the de tec tion of fun ctio nal re la tion ship be tween po ten tial can di da te ge ne and pat ho ge ne tic mec ha nis ms as so cia ted wi th PD, we de sig ned stra te gy of in teg ra tion of re sul ts of tran scrip to mi cs stu dies wi th dis co ve ry ap proa ch in bib liog rap hic da ta ba ses and BITOLA. Da ta of chro mo so me lo ca tion, tis sue-spe ci fi c expres sion, fun ction of po ten tial can di da te ge nes and their as so cia tion with ge ne ti cs di sor de rs we re ob tai ned from Med li ne, Lo cus Li nk, Ge ne Car ds and OMIM. Re sul ts: In teg ra tion and com pa ri son of re sul ts ob tai ned usi ng the BITOLA system and ana lysis of tran scrip to mi cs stu dies iden ti fi ed six ge nes (MAPT, UC HL1, NSF, CDC42, PAR K2 and GFPT1) that oc cur si mul ta neous ly in bo th group of re sul ts. The fun ction of ge nes NSF, CDC42 and GFPT1 in the pat ho gene sis of PD has not been stu died yet. Con clu sio ns: Accor di ng to our re su lt that afo re men tio ned ge nes ap pea red in bo th grou ps of re sults and par tial ly mat ch the cri te ria set for the selec tion of can di da te ge nes and their po ten tial ro le in the de ve lop me nt of PD, they shou ld be tes ted by met ho ds spe ci fi cal ly in ten ded for tho se three ge nes. Key wor ds: Par kin son's disea se; can di da te ge nes; Bio me di cal Dis co ve ry Sup po rt System (BITOLA) Original article In tro duc tionPar kin son's di sea se (PD) is etio lo gi cal ly, ge ne ti cal ly and pat ho lo gi cal ly com plex and he te ro ge neous di sea se (1). It is es ti ma ted that mo st ca ses of PD (>95%) are spo ra dic and ha ve la te age on set, yet sma ll but growi ng sub set of in di vi dua ls has a single ge ne de fe ct as the cau se of the di sea se (2,3). In the la st group, at lea st ten lo ci as so cia ted wi th PD ha ve been iden ti fied so far: PAR K1, PAR K2, PAR K3, PAR K4, PAR K5, PAR K6, PAR K7, PAR K8, PAR K9 and GBA (4).Ge no me-wi de stu dy of mul tip lex PD fa mi ly off ered evi den ce about con nec tion of tho se lo ci whi ch are on the diff e re nt chro mo so mes (5-7). Ge ne ti cally de fi ned fa mi lial for ms of PD off er in sig hts in to mo le cu lar sig na li ng pat hways that mo du la te protein deg ra da tion and mi toc hon drial ho meos ta sis sus tai ni ng the se lec ti ve neu ro de ge ne ra ti ve pro cess in typi cal Par kin so ni sm (8). Ge ne tic he te ro ge neity of mo no ge nic fo rm of PD poin ts to...
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.
Background: Cerebrovascular accidents (CVI) are considered the second most serious complication in cardiac surgery patients with a frequency of 10%. By preventing complications of surgical treatment, using a Color Doppler ultrasound (CDU) device, in the population of cardiac surgery patients, the unplanned costs of prolonged postoperative treatment would be reduced. Objective: To prove that the acquisition and use of the new CDU device “Affinity 30” is completely economically profitable and medically justified. Methods: Numerical parameters of the treatment of cardiovascular patients were analyzed (number of procedures, number of days in the intensive care unit, cost of additional consultative services of the clinic for radiology and neurology), and the calculated economic value of the potential investment, as well as the cost of preventing surgical complications, by purchasing and using a new modern CDU device. The profitability of the investment was assessed using the economic parameters Net Present Value (NPV) of the investment, Internal rate of return (IRR) and Profitability Index (PI). Results: By mathematical calculations, with the given parameters, result in NPV=948,850 KM, IRR is 273%. The PI value is 12.6, which is in accordance with the previously calculated NPV and IRR values. Conclusion: The acquisition and use of the new CDU device “Affinity 30” is economically profitable and medically justified as shown by the calculated values of the economic parameters Net Present Value of the investment (NPV), Internal rate of return (IRR) and the Profitability Index (PI).
Background: Acute left ventricular free wall rupture (LVFWR) is a life-threatening complication of myocardial infarction that requires urgent intervention. Surgical repair has continued to be the treatment of choice. Studies suggest a posterolateral or inferior infarction is more likely to result in free wall rupture than an anterior infarction. LVFWR generally results in death within minutes of the onset of recurrent chest pain, and on average was associated with a median survival time of 8 hours. Prompt diagnosis and management can lead to successful treatment for LVFWR. Objective: The aim of this article was to present an emergency case with an LVFWR in a COVID-19 patient who suffers from AMI and was treated with PCI stents in the ramus intermedius and circumflex coronary artery. Case report: We present an emergency case with an LVFWR in a COVID-19 patient who suffers from AMI and was treated with PCI stents in the ramus intermedius and circumflex coronary artery. Although dual antiplatelet therapy introduction and good outcome of PCI were achieved, soon after instant thrombosis of both stents appear to result in transmural necrosis and LVFWR. Urgent catheterization was performed and diagnosed in-stent thrombosis where the ventriculography confirmed LVFWR of the posteroinferior wall. Urgent surgery was performed. Transmural necrosis was noticed alongside the incision line. The incision is sawn with 4 U-stitches (Prolen 2.0 with Teflon buttressed stitches). Another layer of fixation was made by Prolen 2.0 running stitches reinforced with Teflon felts from both sides. A large PTFE patch was fixed to epicardium over the suture line by Prolen 6.0 running stitch and BioGlue was injected in-between patch and LV ( Figures 8 and 9 ). After aortic cross-clamp removal, the sinus rhythm was restored. Conclusion: Despite the high mortality, the urgency and the complexity of surgical treatment the early diagnosis plays a key role in the management of postinfarction LVFWR patients presenting a case of preserved postoperative left ventricular function and accomplished good functional status, as presented in our case.
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