Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and ...cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes—among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.
Background/Aim. Although distal venous patch and cuff techniques are recommended to improve the patency of by-pass in the lower extremities, the advantage of these techniques remains unproven. ...Autovenous bypass graft remains the method of choice, but when there is no possibility of using the great saphenous vein, the venous cuff method may have an advantage. The aim of this study was to evaluate the results of femorodistal bypass procedures with a venous cuff in critical lower extremity ischemia. Methods. The study described the results of femorodistal bypass procedures after a follow-up period of 6 to 24 months. We followed 28 patients with distal composite anastomosis of femorodistal arterial reconstruction. Indications for surgical treatment were set on the basis of the clinical exam and morphological criteria based on multidetector computed tomographic angiography. Three types of distal graft-arterial anastomoses were applied: Miller?s cuff, Taylor?s patch, and St. Mary?s vein boot anastomosis. Results. After 6 months of surgery, all bypasses were passable; after one year, 2 (7%) patients had graft occlusion and above-knee amputation, and 8 (28%) patients died; after 24 months, 18 (64%) patients had primary bypass patency. Conclusion. Femorodistal bypass procedures using a synthetic graft and venous cuff have good long-term results. The optimal anastomosis type is St. Mary?s boot. A longer follow-up period and comparison with the autovenous bypass are necessary for a more detailed assessment of the final conclusion.
Background/Aim. Neovascular glaucoma (NVG) is a secondary glaucoma caused by occlusion of the trabecular network of newly formed blood vessels. The aim of this study was to evaluate the efficacy and ...safety of intravitreal injections of bevacizumab before trabeculectomy with mitomycin C (MMC) for the treatment of NVG. Methods. A prospective and open-label study was conducted from May 2013 to December 2014 on consecutive NVG patients who underwent intravitreal injections of bevacizumab and a primary trabeculectomy with MMC. All patients were followed-up at least for 12 months. Success was defined as an intraocular pressure (IOP) of ? 21 mm Hg with or without topical ocular hypotensive medication. Results. Fourteen eyes of 12 diabetic patients fulfilled the respective demands of the inclusion and exclusion criteria. The mean (? standard deviation) follow-up period was 15.0 (? 2.0) months (range, 12 to 19 months). After one year of follow-up, 11 (78.6%) eyes had an IOP ? 21 mmHg. The mean IOP was significantly reduced from 42.4 (? 9.7) mmHg preoperatively to 18.4 (? 2.9) mmHg postoperatively (p < 0.0001). Regarding surgical complications, 6 months of trabeculectomy, hyphaema was observed in 3 (21.4%) eyes, macular edema in one (7.1%) eye and recurrence of neovascularization requiring intravitreal bevacizumab injection in 2 (14.2%) eyes. Conclusion. Preoperative intravitreal bevacizumab may be effective as adjunctive treatment for trabeculectomy with mitomycin-C for neovascular glaucoma patients.
nema
Background/Aim. An aggressive approach with radical nephrectomy and thrombectomy is the mainstay of the treatment in patients with renal tumors. The aim of this study was to present the results of ...such surgical procedures performed in the last 25 years at our institution. Methods. We made a retrospective analysis of radical nephrectomy and thrombectomy in patients with renal tumor and tumor thrombus (TT) extending into the inferior vena cava (IVC) operated on at our institution between January 1995 and October 2021. Results. There were 92 patients (72 males and 20 females) aged 60.5 on average who were operated on in the mentioned period. A predominance of right-sided tumors was present in 73.33% of patients. Patients with TT in the renal vein (levels 0 and I) were not included. TT levels II, III, and IV were present in 32 (34.8%), 52 (56.5%), and 8 (8.7%) patients, respectively. One patient had thrombosis of the right pulmonary artery. Four patients had liver metastases, and ten had lymph node involvement. The surgical approach by subcostal incision was achieved in 8 (8.69%) patients, by chevron incision in only 11 (11.95%) patients, while in 73 (79.34%) patients, we performed median sternotomy and subcostal/chevron incision. Intraoperatively, there was one complication which was pulmonary thromboembolism. Six patient required re-exploration after the surgery due to the IVC hemorrhage. The three-year survival in patients with renal tumors and TT levels II?IV in the IVC was 43%. Conclusion. Surgery will remain the primary cure method in patients with renal tumors and TT in the IVC. Long-term survival in these patients can be achieved by complete surgical removal (radical nephrectomy and thrombectomy).
Purpose
To evaluate the relationship between retrobulbar hemodynamic parameters in the ophthalmic artery (OA), central retinal artery, and short posterior ciliary artery and 24-hour blood pressure ...(BP) measurements in dipper and nondipper patients with primary open-angle glaucoma (POAG).
Methods
A prospective, cross-sectional, and observational study was conducted on consecutive patients, referred or recruited, attending the outpatient service of our ophthalmology department. Ambulatory BP monitoring, Doppler imaging, and ocular pulse amplitude measurements were performed on the same day. Patients with nocturnal BP decrease up to 10% of the diurnal BP were defined as dippers and those with BP decrease less than 10% were defined as nondippers.
Results
A total of 114 patients (36 nondippers and 78 dippers) were included in the study. The end-diastolic velocity was significantly lower and the resistivity index (RI) was significantly higher in the dippers than in the nondippers (p<0.0001 and p<0.0001, respectively). The RI in the OA was significantly correlated with daytime and nighttime systolic BP and with the daytime mean arterial pressure in the dippers.
Conclusions
The RI in the OA significantly correlates with BP in patients with POAG with nocturnal BP dips. Additionally, retrobulbar blood flow parameters are reduced in dippers as compared with nondippers with POAG.
A novel voltammetric method was developed for brimonidine (BRIM) determination in deproteinized aqueous humor, simplifying preparation of biological samples for analysis for stability studies. The ...differential pulse voltammetric (DPV) method using boron doped diamond electrode (BDDE), based on characteristic oxidation peaks, was proposed and successfully applied. The linearity range was within 5.0 × 10
−6
to 5.0 × 10
−5
M of brimonidine, and limit of detection and limit of quantitation were 1.94 × 10
−6
M and 6.46 × 10
−6
M, respectively. Intra-day and inter-day precision and accuracy were evaluated and all results were in accordance with validation ICH guidelines. The best short-term stability study results were obtained for a concentration level of 3.0 × 10
−5
M expressed by deviation of + 1.86% between initial and post storage concentrations. A long-term stability study was performed for two concentrations of 3.0 × 10
−5
M and 5.0 × 10
−5
M and resulted in deviations of + 1.63% and + 3.56%, respectively. A freeze and thaw stability study indicated that samples might be frozen only once. The enhancement of DPV/BDDE method sensitivity gained by modification, for the analysis of immeasurable BRIM quantities in native, untreated aqueous humor, was reached for quantities of 6 or 12 nmol/0.1 mL aqueous humor with acceptable accuracy (up to + 7.5%). The nature of the process—the irreversible one electron oxidation voltammetric peak of BRIM—limited the sensitivity. Only electrochemical pre-treatment of the BDD electrode before each measurement significantly speeded up the whole procedure. The advantages of the proposed method are simplicity, short-time performance, and good specificity/selectivity, as well as satisfactory accuracy, and no chemical modification of BDDE was necessary.
Background/Aim. Different surgical interventions have been proposed, including trabeculectomy associated with antiproliferative agents because silicone oil (SO) removal cannot necessarily provide ...intraocular pressure (IOP) control. The aim of the study was to determine the efficacy of trabeculectomy with mitomycin C (MMC) for lowering IOP in patients with open-angle glaucoma (OAG) secondary to emulsified SO after pars plana vitrectomy. Methods. A single-center, prospective study was conducted, from December 2014 to December 2019, on 56 consecutive patients with an uncontrolled elevation of IOP after SO removal who were subjected to trabeculectomy with mitomycin MMC in that period. The primary end-point was the IOP at the three-year follow-up visit. Complete surgical success was defined as an IOP ranging from 7 mmHg to 18 mmHg without glaucoma medication. Qualified success was defined a s I OP ? 2 1 m mHg with one or two topical medications. Results. Fifty-six patients with a mean age of 5 3.6 standard deviation (SD)15.5 years had a mean baseline IOP of 42.3 (39.3 to 45.3) mmHg, which reduced to 18.6 (17.9 to 19.3) mmHg three years after surgery (p < 0.0001). Seventeen (30.4%) eyes were classified as a complete success, 21 (37,5%) as a qualified success, and 18 (32.1%) as a failure. In all successfully treated patients, the number of antiglaucoma medications was significantly reduced from 2.85 (SD 0.77) to 1.63 (SD 0.62), p < 0.0001. Conclusion. Trabeculectomy with MMC may be an option for lowering IOP in patients with OAG secondary to emulsified SO after pars plana vitrectomy, which was not controlled with maximum
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