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BACKGROUND: Anti-vascular endothelial growth factor (VEGF) therapy is currently the most effective therapy of exudative age-related macular degeneration (AMD). The aim of this study was to assess long-term benefits of intensive aflibercept and ranibizumab anti-VEGF therapy in patients with exudative AMD. METHODS: Two clinical trial sites recruited their original subjects for a re-evaluation 7 years after the baseline visit of the phase-3 Vascular Endothelial Growth Factor (VEGF) Trap-Eye: Investigation of Efficacy and Safety in Wet Age-Related Macular Degeneration (VIEW 2) trial. Forty-seven eyes of 47 patients with AMD originally treated with ranibizumab (14 eyes) or aflibercept (33 eyes) were included. RESULTS: Mean number of injections was 17.8 ± 3.0 during participation in the VIEW 2 trial. Fourteen of 47 (30%) eyes were given additional injections with a mean number of 5.7 ± 4.5 after the trial. At a mean follow-up time of 82 ± 5 months best corrected visual acuity (BCVA) remained stable or improved (≤ 10 letters lost) in 55% of patients in the entire study population, in 43% in the ranibizumab group and in 60% in the aflibercept group. In both groups combined mean BCVA was 54 ± 13 letters at baseline, 65 ± 17 letters at the end of the intensive phase and 45 ± 25 letters at the end of follow-up. There was no statistically significant difference in BCVA between the two groups at baseline (p = 0.88) and at the end of follow-up (p = 0.40). Macular atrophy was observed in 96% of eyes, average area was 7.22 ± 6.31 mm2 with no statistically significant difference between groups (p = 0.47). Correlation between BCVA at end-of-follow-up and the area of atrophy was significant (p < 0.001). At the end of follow-up, fluid was detected in 7 of 47 eyes (15%) indicating disease activity. CONCLUSION: Long-term efficacy of aflibercept and ranibizumab was largely consistent. Following a two-year intensive therapy with as-needed regimen, BCVA was maintained or improved in almost half of the patients and in the ranibizumab group and more than half of the patients in the aflibercept group with very few injections. In a remarkable proportion of eyes, BCVA declined severely which underlines the need for long-term follow-ups and may indicate a more prolonged intensive therapy. TRIAL REGISTRATIONS: VIEW 2 study: ClinicalTrials.gov ID: NCT00637377, date of registration: March 18, 2008. Long-term follow-up: IRB nr.: SE RKEB 168/2022, ClinicalTrials.gov ID: NCT05678517, date of registration: December 28, 2022, retrospectively registered.

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While metastases are the most common intraocular malignancies, ocular metastases of renal cell carcinoma are rare. The most frequent primary malignancy of the eye is uveal melanoma. The common ocular localization is the choroid in both cases. The clinical differentiation of choroidal metastasis from renal cell carcinoma and choroidal melanoma malignum is a diagnostic challenge for the ophthalmologist. We present two cases where renal cell carcinoma had metastasized to the choroid. Enucleation was performed in a 61- and a 71-year-old male patient with suspected advanced choroidal malignant melanoma following biomicroscopic and B-scan ultrasonography examination. Histopathological examination confirmed clear-cell renal cell carcinoma in both cases. The clinical and ultrasonographic appearance of clear-cell renal cell carcinoma metastasis may mimic choroidal malignant melanoma, and may only be suspected if a primary renal cell carcinoma is already established.

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The aim of this study is to present our knowledge about pachychoroid diseases using case reports, literature review and our own clinical experiences. A summary flow chart of treatment options for the subgroups was prepared, too. Pachychoroid diseases include the following: central serous chorioretinopathy (CSCR), pachychoroid pigment epitheliopathy (PPE), pachychoroid neovasculopathy (PNV), polypoidal choroidal vasculopathy (PCV), peripapillary pachychoroid syndrome (PPS), focal choroidal excavation (FCE). A common feature of pachychoroid diseases is the quantitative or qualitative abnormality of the choroidea, which is often associated with subretinal fluid accumulation. The disease group does not currently have a standard treatment protocol; some of the multiple treatments prove to be more effective, however, there are significant differences between the subgroups. We summarize which subgroup benefits from eplerenone tablet therapy, micropulse laser therapy, verteporfin photodynamic therapy or intravitreal anti-VEGF injection therapy. Orv Hetil. 2020; 162(20): 770-781.

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INTRODUCTION: Pathological myopia is one of the leading causes of vision loss worldwide, especially among young people of working age. Choroidal neovascularization is one of the most important cause of visual impairment in pathological myopia. AIM: To evaluate the efficacy of intravitreal ranibizumab for the treatment of myopic choroidal neovascularization. METHOD: In this retrospective analysis 14 eyes of 14 patients (mean age: 61 ± 17 years) with myopic choroidal neovascularization were treated with intravitreal ranibizumab as needed. Best-corrected visual acuity, thickness of choroidal neovascularization lesion and the number of injections were assessed. RESULTS: The mean visual acuity changed from 55.8 ± 19.3 letters to 64.8 + 15.5 at 12 months (p = 0.0414), and 62.6 ± 16.3 during follow-up time (p = 0.2896). Mean follow-up time was 19.7 ± 23.9 months, average number of injections was 2.8 ± 2.1. Visual acuity declined in four patients despite the treatment. CONCLUSIONS: Intravitreal ranibizumab is an effective therapy in pathological myopia. Some patients experience deterioration of visual acuity despite of treatment. Orv. Hetil., 2017, 158(15), 579-586.

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INTRODUCTION AND AIM: The correction of aphakia might be a challenge for the surgeon. The aim of this study is to describe the authors' experience with the implantation of the retropupillary iris clip intraocular lens. METHOD: Patients between January 2014 and December 2015 were included in the retrospective study. Retropupillary implantation of iris clip intraocular lens VRSA 54 (AMO Advanced Medical Optics, USA) was performed in all cases. The minimum follow up period was three months. The stability of the intraocular lens and the intraoperative and postoperative complications and the visual acuity were evaluated. RESULTS: During this time period 11 cases (1 female, 10 males) were included in the study. The mean age at the time of the implantation was 57.7 years (between 25-74 years). In 4 cases the iris clip lens was implanted during the first intervention, in 7 cases during the secondary procedure. In all cases the lens was fixated onto the iris posteriorly. The best corrected visual acuity before the iris clip implantation was 0.43 (0.1-1.0) and postoperatively at the time of the follow up 0.49 (0.04-1.0). CONCLUSIONS: With the use of the retropupillary implanted iris clip intraocular lens all of the patients could have been rehabilitated without major complications. Orv. Hetil., 2017, 158(1), 20-24.

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INTRODUCTION: Vascular endothelial growth factor antibody therapy is an established treatment of exsudative age-related macular degeneration. AIM: The morphologic characterisation of the macular microvasculature after longstanding treatment. METHOD: Forty-eight patients (34 women and 14 men; age, 74.4 ± 8.0 years) were enrolled in the study. During follow-up time (53.8 ± 31.0 months), 7.6 ± 4.9 injections were administered in 56 eyes. Optical coherence tomography angiographic examination was performed with AngioVue (Optovue Inc. Fremont, CA, USA). RESULTS: Distortion of the superficial retinal plexus and foveal avascular zone enlargement were noted in 5/56 eyes, deep retinal plexus defect was detected in 9/56 cases. Destruction of the choriocapillaries and the former neovascularisation could be found in 4 different patterns: 1. pigment epithelium and choriocapillary atrophy, 2. submacular scar, 3. active leaking choroidal neovascularisation, 4. intraretinal cysts. CONCLUSION: Optical coherence tomography angiography is a novel non-invasive method, which enables the follow up of macular degeneration. Orv. Hetil., 2016, 157(42), 1683-1690.

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PURPOSE: Diabetes is accompanied by fundamental rearrangements in redox homeostasis. Hyperglycemia triggers the production of reactive oxygen and nitrogen species which contributes to tissue damage in various target organs. Proliferative diabetic retinopathy (PDR) is a common manifestation of diabetic complications but information on the possible role of reactive intermediates in this condition with special regard to the involvement of the vitreous in PDR-associated redox alterations is scarce. The aim of the study was to determine key parameters of redox homeostasis [advanced glycation endproducts (AGE); protein carbonyl and glutathione (GSH)] content in the vitreous in PDR patients. METHODS: The study population involved 10 diabetic patients undergoing surgery for complications of proliferative diabetic retinopathy and 8 control (non-diabetic) patients who were undergoing surgery for epiretinal membranes. Vitreal fluids were assayed for the above biochemical parameters. RESULTS: We found elevated levels of AGE in the vitreous of PDR patients (812.10 vs 491.69ng AGE/mg protein). Extent of protein carbonylation was also higher in the samples of diabetic patients (2.08 vs 0.67A/100µg protein). The GSH content also increased in the vitreous of PDR patients as compared to the control group (4.54 vs 2.35µmol/µg protein), respectively. CONCLUSION: The study demonstrates that diabetes-associated redox alterations also reach the vitreous with the most prominent changes being increased protein carbonylation and increased antioxidant levels.

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INTRODUCTION: The results of intravitreal ranibizumab treatment for exsudative age-related macular degeneration have been favourable until this time. AIM: To evaluate the two-year functional and anatomic results of intravitreal ranibizumab treatment. METHOD: 46 patients (age: 75 ± 9.1 years) were included in a prospective single center study. Treatment regimen was the following: monthly 0.5 mg ranibizumab was administered in the first 3 months, and later as required (pro re nata). The change of best corrected visual acuity and central retinal thickness was followed. RESULTS: The visus change at the end of the follow-up time was not statistically significant compared to baseline (p = 0.760) and the at the end of the first year (p = 0.154). Central retinal thickness decreased significantly compared to baseline (p = 0.000001), but the change was not statistically significant compared to the end of the first year (p = 0.875). CONCLUSIONS: Patients with neovascular macular degeneration treated with intravitreal ranibizumab using pro re nata regimen have stable visus for long term, and the exsudation could be reduced efficiently.

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We report a case of a 26-year-old primigravid woman, believed to have HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome, which turned out to be a thrombotic thrombocytopenic purpura (TTP) bout. At the 40th gestational week, based on the clinical picture of HELLP syndrome, a cesarean section was performed and a dysmature male newborn was delivered. Afterwards, clinical symptoms and laboratory abnormalities persisted. Severe ADAMTS13 deficiency with the presence of inhibitory anti-ADAMTS13 antibodies revealed acquired thrombotic thrombocytopenic purpura bout, which was complicated with bilateral vision decrease due to bilateral retinal detachment. At the first ophthalmological examination, ultrasonography and binocular indirect ophthalmoscopy confirmed the diagnosis of the serous retinal detachment. After the diagnosis of acquired TTP bout, the patient was treated with multiple plasmapheresis and intravenous immunoglobulin with rapid improvement of the clinical and laboratory parameters. The ophthalmologic complications disappeared later without sequelae. At the 18-month examination, substantial visual acuity improvement without serous retinal detachment and full best corrected visual acuity were observed.

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Arterial stiffness (Ast) individually predicts cardiovascular (CV) mortality. Ast increases via vascular calcification and can be characterized by pulse wave velocity (PWV). We assessed the influence of mineral and bone metabolism on Ast in dialyzed (D) and renal transplanted (Tx) children by measuring fetuin-A and bone markers [bone-specific alkaline phosphatase (BALP); beta-CrossLaps (beta)]. Normalized PWV/height (PWV/h) of 11 D and 17 Tx patients was measured by applanation tonometry. Levels of calcium (Ca), phosphate (P), fetuin-A, and bone markers were analyzed. Ca x P/fetuin-A ratio was calculated to characterize the balance of calcification and inhibition. Cumulative dose of calcitriol was also assessed. Fetuin-A was lower in D and Tx compared with healthy controls. Bone markers and Ca x P/ fetuin-A of D were significantly higher than those of Tx and controls. In D PWV/h correlated with Ca x P/fetuin-A and BALP (r=0.8; p=0.005, r=0.6, p=0.05, respectively); BALP correlated with Ca x P/fetuin-A (r=0.7, p=0.01). In Tx, there was a correlation between calcitriol administered before transplantation and PWV/h (r=0.5, p=0.04). Increased bone turnover was coupled with an increased potential of calcium-phosphate precipitation, as shown by the increased Ca x P/fetuin-A. It might explain the connection between disturbed mineral and bone metabolism and Ast. Tx might be beneficial on Ast, though follow-up studies are needed.

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PURPOSE: To determine if focused ultrasonography (US) combined with a diagnostic microbubble-based US contrast agent can be used to modulate glomerular ultrafiltration and size selectivity. MATERIALS AND METHODS: The experiments were approved by the animal care committee. The left kidney of 17 healthy rabbits was sonicated by using a 260-kHz focused US transducer in the presence of a microbubble-based US contrast agent. The right kidney served as the control. Three acoustic power levels were applied: 0.4 W (six rabbits), 0.9 W (six rabbits), and 1.7 W (five rabbits). Three rabbits were not treated with focused US and served as control animals. The authors evaluated changes in glomerular size selectivity by measuring the clearance rates of 3000- and 70,000-Da fluorescence-neutral dextrans. The creatinine clearance was calculated for estimation of the glomerular filtration rate. The urinary protein-creatinine ratio was monitored during the experiments. The authors assessed tubular function by evaluating the fractional sodium excretion, tubular reabsorption of phosphate, and gamma-glutamyltransferase-creatinine ratio. Whole-kidney histologic analysis was performed. For each measurement, the values obtained before and after sonication were compared by using the paired t test. RESULTS: Significant (P < .05) increases in the relative (ratio of treated kidney value/nontreated kidney value) clearance of small- and large-molecule agents and the urine flow rates that resulted from the focused US treatments were observed. Overall, 1.23-, 1.23-, 1.61-, and 1.47-fold enhancement of creatinine clearance, 3000-Da dextran clearance, 70 000-Da dextran clearance, and urine flow rate, respectively, were observed. Focal tubular hemorrhage and transient functional tubular alterations were observed at only the highest (1.7-W) acoustic power level tested. CONCLUSION: Glomerular ultrafiltration and size selectivity can be temporarily modified with simultaneous application of US and microbubbles. This method could offer new opportunities for treatment of renal disease.

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Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome are caused mainly by the A3243G mutation of the mitochondrial genome. The A3243G substitution of mitochondrial DNA (mtDNA) is also responsible for various, other clinical phenotypes and syndromes. Here we report the case of a 33-year-old woman, with childhood onset ophthalmoplegia externa, progressive, generalised exercise intolerability, muscle weakness, hypacusis and diabetes mellitus as the symptoms of mitochondrial disease. Genetic analysis of the mitochondrial DNA revealed a heteroplasmic A to G substitution at position 3243 in the tRNS Leu(UUR) gene. In our case the classical MELAS phenotype has not yet appeared, however, some examples show in the literature that maternally inherited diabetes mellitus, progressive hypacusis, progressive ophthalmoplegia externa, exercise intolerance, and myopathy are often linked to as isolated symptoms of A3243G mutation. The phenotype in the family is consistent, the proband's daughter has ptosis, exercise intolerance, and myopathy, too. A brief summary of the different clinical phenotypes associated with A3243G mutation, and of the different mtDNA mutations which can cause chronic progressive ophthalmoplegia externa (CPEO) will also be reviewed in this case report.

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Alpha-synuclein (alphaSN) plays a major role in numerous neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. Intracellular inclusions containing aggregated alphaSN have been reported in Alzheimer's and Parkinson's affected brains. Moreover, a proteolytic fragment of alphaSN, the so-called non-amyloid component of Alzheimer's disease amyloid (NAC) was found to be an integral part of Alzheimer's dementia related plaques. Despite the extensive research on this topic, the exact toxic mechanism of alphaSN remains elusive. We have taken the advantage of an alphaSN overexpressing SH-SY5Y cell line and investigated the effects of classical apoptotic factors (e.g. H(2)O(2), amphotericin B and ruthenium red) and aggregated disease-related peptides on cell viability compared to wild type neuroblastoma cells. It was found that alphaSN overexpressing cells are more sensitive to aggregated peptides treatment than normal expressing counterparts. In contrast, cells containing elevated amount of alphaSN were less vulnerable to classical apoptotic stressors than wild type cells. In addition, alphaSN overexpression is accompanied by altered phenotype, attenuated proliferation kinetics, increased neurite arborisation and decreased cell motility. Based on these results, the alphaSN overexpressing cell lines may represent a good and effective in vitro model for Alzheimer's and Parkinson's disease.

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Primycin is a macrolide antibiotic complex produced in microbiological fermentation processes. The microbial production of primycin requires an in-process analytical method suitable for monitoring the level of the active agents. In this paper, a method fulfilling the described requirement is presented. This method consists of a simple, efficacious extraction step, an instrumental sample application followed by a high-performance thin-layer chromatographic separation in relatively short time and a quantitative chromatogram evaluation. A dipping technique, in a solution containing sulfuric acid followed by heating at 120 degrees C, is used for chromogen formation, resulting in an absorption maximum at 290 nm. A progress diagram of the fermentation obtained by this technique is compared with one obtained by a microbiological agar diffusion method. The bioautographic evaluation of the active spots in the chromatogram are also presented. By our TLC method, the group of the active primycin components in the fermentation broth and by-products formed during the fermentation can be well separated. The relative intensities of the different TLC spots provide some information on the formation of the active components.

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Hereditary motor and sensory neuropathy-Lom is an autosomal recessive disorder of the peripheral nervous system, which occurs only in the european Roma population. The symptoms start in the first decade with slowly progressive gait disturbance, weakness and wasting of distal upper extremity muscles, joint deformities and hearing loss develop later in the second and third decades. This disorder is caused by a homozygous missense mutation of the NDRG1 gene, located in the 8q24 region. The Schwann cell dysfunction is most probably caused by altered lipid metabolism as a consequence of the NDRG1 mutation. Molecular genetic testing can be a first diagnostic step among roma individuals showing a Lom neuropathy phenotype, making evaluation of such patients and also genetic counselling faster and easier. Screening for hereditary neuromuscular disorders in this genetically isolated community may become an important public health issue in the near future.

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The authors describe the case of a 6-months-old child with liver tumour. The newborn was healthy until 6 months of age. Prior to hospitalization meteorism and remarkably enlarged liver were observed. A tumour occupying the right lobe of the liver was found with ultrasound and computer tomography, which proved to be inoperable. Intraoperative liver biopsy and few days later the autopsy histology showed a malignant rhabdoid tumour. Authors describe the clinical and morphological features of a rare case of primary hepatic rhabdoid tumour.

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PURPOSE: Evaluation of the effects of laser photocoagulation on cultured primary retinal pigment epithelial cells. METHODS: Cells were treated by a diode laser (678 nm) with 800 and 1600 mW for 0.186 second. Cell toxicity was tested by the WST-1 assay, and the uptakes of glutamate and gamma-aminobutyric acid (GABA) were measured. RESULTS: Laser photocoagulation (1600 mW) caused cell damage and the mitochondrial enzyme activity evaluated by a WST-1 test significantly decreased by 20%-30%. Laser treatment caused a dose-dependent decrease in glutamate uptake but increased GABA uptake. CONCLUSIONS: Laser treatment and the laser-induced increase in temperature influence transport processes in retinal pigment epithelial cells and may cause cell damage in the posterior part of the retina.

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BACKGROUND: Patients with cow milk allergy (CMA) are potentially at risk for osteopenia because their milk-free diet usually contains a low calcium content. In our study, different parameters of bone mineralization in children with CMA were investigated. PATIENTS AND METHODS: Twenty-seven CMA patients (mean age, 4.3 years; range, 3-8 years) were enrolled in the study. During a mean milk-free diet period of 11.8 months, children were fed extensively hydrolyzed or soy-based formulas. After a milk challenge test, 7 patients showed allergic symptoms, and the other 20 children had transient CMA. From the sera of all patients, the levels of sodium, potassium, chloride, calcium, phosphate, and magnesium ions, as well as alkaline phosphatase (AP), parathyroid hormone (PTH), osteocalcin, and beta-crosslaps, were determined. These values were compared with those of 20 healthy age-matched controls. Bone mineral density was measured as well. RESULTS: The AP and PTH concentrations were higher in CMA patients than in the control group (AP: 610.2 U/L vs. 499.7 U/L, P < 0.01; PTH: 1.56 pmol/L vs. 0.83 pmol/L, P< 0.03), but all values were in the normal range. The osteocalcin concentration was similar in both groups, and the beta-crosslaps concentration was lower in CMA patients than in controls (0.92 vs. 1.47 ng/mL, P< 0.001). The mean Z score of bone mineral density in patients with CMA was -0.6. In 10 cases, the Z score was less than the -1 SD value. On the basis of the Z score, CMA patients were divided into two groups. The PTH concentration was significantly elevated in the group with lower Z score (2.24 pmol/L vs. 1.16 pmol/L; P< 0.03). CONCLUSION: The results suggest that, in children with CMA who are on a cow milk-free diet, slight disturbances of bone mineralization can be observed by osteodensitometry.

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Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. The characteristic features of the disease become prominent in the 4-5th decades: proximal muscle wasting and weakness, bulbar signs, fasciculations in skeletal muscles, subtle signs of endocrine dysfunction, such as gynaecomastia or testicular atrophy. The electrophysiological examinations are the keypoint to the diagnosis. Electroneurography shows normal conduction velocity in peripheral nerves, but the sensory nerves usually show axonal degeneration, which causes only very mild or subclinical neurological deficits. Electromyography shows chronic anterior horn cell degeneration in skeletal muscles. Molecular genetic diagnosis was introduced in 1991, when on abnormal expansion of CAG repeat was found in the first exon of the androgen receptor gene on chromosome X with a frequency of 100% in the affected population. Since the progression is very slow and these patients can expect a normal life span, it is essential to distinguish this syndrome from other, often more severe diseases, such as ALS. There is no proven therapy for Kennedy's disease yet. This is the first case of Kennedy's disease published in Hungary.

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