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1.
Medicina (Kaunas) ; 60(5)2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38792993

RESUMEN

Background and Objectives: Age-related macular degeneration (AMD) is one of the leading causes of central vision loss among elderly patients, and its dry form accounts for the majority of cases. Although several causes and mechanisms for the development and progression of AMD have previously been identified, the pathogenesis of this complex disease is still not entirely understood. As inflammation and immune system involvement are strongly suggested to play a central role in promoting the degenerative process and stimulating the onset of complications, we aimed to analyze the frequency of serum anti-retinal (ARAs) and anti-endothelial cell antibodies (AECAs) in patients with dry AMD and to determine their relationship with the clinical features of the disease, notably the area of geographic atrophy (GA). Materials and Methods: This study included 41 patients with advanced-stage dry AMD and 50 healthy controls without AMD, matched for gender and age. ARAs were detected by indirect immunofluorescence using monkey retina as an antigen substrate, and the presence of AECAs was determined using cultivated human umbilical vein endothelial cells and primate skeletal muscle. Results: ARAs were detected in 36 (87.8%) AMD patients (titers ranged from 1:20 to 1:320) and in 16 (39.0%) (titers ranged from 1:10 to 1:40) controls (p = 0.0000). Twenty of the forty-one patients (48.8%) were positive for AECAs, while in the control group, AECAs were present only in five sera (10.0%). The titers of AECAs in AMD patients ranged from 1:100 to 1:1000, and in the control group, the AECA titers were 1:100 (p = 0.0001). There were no significant correlations between the presence of AECAs and disease activity. Conclusions: This study demonstrates a higher prevalence of circulating AECAs in patients with dry AMD; however, no correlation was found between the serum levels of these autoantibodies and the area of GA.


Asunto(s)
Autoanticuerpos , Atrofia Geográfica , Degeneración Macular , Humanos , Masculino , Femenino , Anciano , Atrofia Geográfica/sangre , Atrofia Geográfica/inmunología , Degeneración Macular/sangre , Degeneración Macular/complicaciones , Autoanticuerpos/sangre , Persona de Mediana Edad , Anciano de 80 o más Años , Células Endoteliales/inmunología , Retina/inmunología , Estudios de Casos y Controles
2.
Medicina (Kaunas) ; 60(3)2024 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-38541191

RESUMEN

Inflammation plays a key role in the induction of choroidal neovascularization (CNV). Inflammatory choroidal neovascularization (iCNV) is a severe but uncommon complication of both infectious and non-infectious uveitides. It is hypothesized that its pathogenesis is similar to that of wet age-related macular degeneration (AMD), and involves hypoxia as well as the release of vascular endothelial growth factor, stromal cell-derived factor 1-alpha, and other mediators. Inflammatory CNV develops when inflammation or infection directly involves the retinal pigment epithelium (RPE)-Bruch's membrane complex. Inflammation itself can compromise perfusion, generating a gradient of retinal-choroidal hypoxia that additionally promotes the formation of choroidal neovascularization in the course of uveitis. The development of choroidal neovascularization may be a complication, especially in conditions such as punctate inner choroidopathy, multifocal choroiditis, serpiginous choroiditis, and presumed ocular histoplasmosis syndrome. Although the majority of iCNV cases are well defined and appear as the "classic" type (type 2 lesion) on fluorescein angiography, the diagnosis of iCNV is challenging due to difficulties in differentiating between inflammatory choroiditis lesions and choroidal neovascularization. Modern multimodal imaging, particularly the recently introduced technology of optical coherence tomography (OCT) and OCT angiography (noninvasive and rapid imaging modalities), can reveal additional features that aid the diagnosis of iCNV. However, more studies are needed to establish their role in the diagnosis and evaluation of iCNV activity.


Asunto(s)
Neovascularización Coroidal , Coroiditis , Humanos , Factor A de Crecimiento Endotelial Vascular , Coroiditis/complicaciones , Coroiditis/diagnóstico , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/complicaciones , Inflamación/complicaciones , Tomografía de Coherencia Óptica/métodos , Hipoxia
3.
Medicina (Kaunas) ; 60(2)2024 Jan 25.
Artículo en Inglés | MEDLINE | ID: mdl-38399495

RESUMEN

Background: Endogenous Candida endophthalmitis (ECE) is a rare but sight-threatening disease. Patients with ECE present with various clinical signs and symptoms, which can complicate the diagnosis. The aim of this report was to demonstrate the outcomes of treatment and to diagnose macular complications caused by intraocular inflammation. Case presentation: A 41-year-old woman with a history of acute intermittent porphyria presented with a progressive vision loss in her left eye. Left-eye OCT revealed findings consistent with a fungal etiology, which was confirmed by the culture of swabs collected from a central vein catheter. The outcomes of intravenous fluconazole treatment were not satisfactory, and the patient developed recurrent attacks of porphyria, suggesting a porphyrogenic effect of systemic antifungal therapy. Repeated intravitreal injections with amphotericin B led to a gradual regression of inflammatory lesions. However, follow-up examinations revealed active macular neovascularization (MNV) on both OCT and OCTA scans. The patient was administered intravitreal bevacizumab. At the 11th month of follow-up, OCT and OCTA scans showed significant inflammatory lesions regression with macula scarring, and no MNV activity was detected. Conclusions: This case highlights the importance of OCT and OCTA as valuable noninvasive imaging techniques for the identification of ECE, the monitoring of its clinical course, and the diagnosis of macular complications.


Asunto(s)
Neovascularización Coroidal , Endoftalmitis , Humanos , Femenino , Adulto , Estudios de Seguimiento , Tomografía de Coherencia Óptica/métodos , Angiografía con Fluoresceína/métodos , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/etiología , Endoftalmitis/diagnóstico por imagen , Endoftalmitis/tratamiento farmacológico , Candida
4.
Br J Ophthalmol ; 2023 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-37734766

RESUMEN

BACKGROUND: Accurate risk stratification of uveal melanoma (UM) patients is important for determining the interval and frequency of surveillance. Loss of BAP1 expression has been shown to be strongly associated with UM-related death and metastasis. METHODS: In this study of 164 enucleated UMs, we assessed the prognostic role of preferentially expressed antigen in melanoma (PRAME) expression and Ki67 proliferation index measured by digital quantitation using QuPath programme in patients with BAP1-positive and BAP1-loss UMs. RESULTS: In univariate analyses with log-rank tests and Kaplan-Meier curves, PRAME further stratified only overall survival (OS) in BAP1-positive and BAP1-loss tumour groups. However, Ki67 further stratified both OS and disease-free survival (DFS) in BAP1-positive and BAP1-loss tumour groups. In multivariate analyses, Ki67 percentage and BAP1 were independent survival predictors for both OS and DFS, whereas PRAME was not a significant covariate. In model comparisons, combined Ki67 and BAP1 performed better than combined PRAME and BAP1 in risk-stratifying patients for both OS and DFS. Ki67 was better than PRAME in risk stratification of BAP1-positive UMs. Low Ki67 index correlated with significantly prolonged DFS in BAP1-loss UMs. CONCLUSION: A panel of Ki67 and BAP1 could be a helpful risk stratification strategy for UM.

5.
J Contemp Brachytherapy ; 15(3): 184-190, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37425204

RESUMEN

Purpose: The presentation of results of an ophthalmic plaque displacement as a brachytherapy treatment method of large diffuse uveal melanomas. Material and methods: This was a retrospective analysis of treatment results of 9 patients with large diffuse uveal melanomas using ophthalmic plaque displacement. Patients were treated with this method in our center between 2012 and 2021 (last follow-up visit in 2023). To achieve appropriate radiation dose distribution for large tumors with a base greater than 18 mm, brachytherapy (106Ru in 7 patients and 125I in 2 patients) with applicator displacement was used as primary treatment. Median follow-up was 2.9 years, and for patients with positive primary treatment results, it was 1.7 months. Median time to local relapse was 2.3 years. Results: In 5 patients, a positive result of local treatment was obtained, out of whom, one patient underwent enucleation due to complications. In the next 4 cases, local recurrence developed. In all tumors, the use of applicator displacement method caused that planning target volume (PTV) was effectively covered with treatment isodose. Conclusions: Brachytherapy with ocular applicator displacement allows for the treatment of tumors with base measurements larger than 18 mm. The application of this method may be considered as an alternative for eye enucleation in particular cases of large diffuse tumors, such as a neoplasm of the eye with vison, or when a patient does not consent to enucleation.

6.
Thromb J ; 21(1): 81, 2023 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-37507715

RESUMEN

INTRODUCTION: Central retinal artery occlusion (CRAO) is a common cause of blindness and visual morbidity. In the majority of cases, it is related to thrombotic embolism. Nevertheless, the role of inherited or acquired thrombophilic risk factors in CRAO pathogenesis has not been comprehensively studied. METHODS: In 126 CRAO patients (66 [52.4%] men, median age 55 [range: 18-80] years) and 107 matched controls (56 [52.3%] men, median age 53 [range: 34-78] years) we evaluated classical atherosclerotic risk factors, including serum lipid profile and glucose level, analyzed intima-media complex thickness (IMT) of external carotid arteries, and performed transthoracic echocardiography. Furthermore, we established the prevalence of inherited and acquired thrombophilic risk factors, such as factor V Leiden (FVL) and prothrombin 20210 G/A genetic variants, plasma activity of factor (F) VIII, protein C and antithrombin activity, and free protein S levels. We also assessed the presence of antiphospholipid antibodies (APLA) and evaluated blood homocysteine in all enrolled subjects. Additionally, we estimated the occurrence of Val34Leu polymorphism of the A subunit of coagulation factor XIII (FXIII-A) in both groups as a potential thrombosis-protecting factor. RESULTS: Among traditional atherosclerotic risk components, obesity/overweight and hypercholesterolemia were the most common in the CRAO group and occurred in 103 (81.7%) and 85 (67.5%) patients, respectively. CRAO patients also had elevated IMT and altered echocardiographic parameters, indicating diastolic cardiac dysfunction. In thrombophilia investigations, at least one laboratory risk factor occurred in 72.2% (n = 91) of CRAO patients, with APLA as the most frequent, detected in 38.1% (n = 48) of them (almost seven times more frequent than in controls, p < 0.001). Deficiencies in protein C activity and free protein S levels were also common in the CRAO group, reported in 17.5% (n = 22) and 19.8% (n = 25) of patients, respectively. Interestingly, among two analyzed prothrombotic genetic variants, only the FVL was related to CRAO, with the allelic frequency 2.4 times more prevalent than in controls (p = 0.044). Finally, the CRAO group was characterized by hyperhomocysteinemia, almost twice as common as in controls (p = 0.026). Antithrombin deficiency, elevated FVIII, and FXIII-A Val34Leu polymorphism were not associated with CRAO. CONCLUSIONS: Our findings suggest that thrombophilia plays a vital role in the pathogenesis of CRAO. Thus, proper laboratory screening should be considered in the primary and secondary prevention of those episodes, with implementing appropriate therapy as needed.

7.
Medicina (Kaunas) ; 59(6)2023 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-37374335

RESUMEN

Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. The eyeball is the most common extracutaneous location of melanoma. UM is a huge threat to a patient's life. It metastasizes distantly via blood vessels, but it can also spread locally and infiltrate extraocular structures. The treatment uses surgical methods, which include, among others, enucleation and conservative methods, such as brachytherapy (BT), proton therapy (PT), stereotactic radiotherapy (SRT), stereotactic radiosurgery (SRS), transpupillary thermotherapy (TTT) and photodynamic therapy. The key advantage of radiotherapy, which is currently used in most patients, is the preservation of the eyeball with the risk of metastasis and mortality comparable to that of enucleation. Unfortunately, radiotherapy very often leads to a significant deterioration in visual acuity (VA) as a result of radiation complications. This article is a review of the latest research on ruthenium-106 (Ru-106) brachytherapy, iodine-125 (I-125) brachytherapy and proton therapy of uveal melanoma that took into account the deterioration of eye function after therapy, and also the latest studies presenting the new concepts of modifications to the applied treatments in order to reduce radiation complications and maintain better visual acuity in treated patients.


Asunto(s)
Braquiterapia , Melanoma , Terapia de Protones , Adulto , Humanos , Braquiterapia/efectos adversos , Braquiterapia/métodos , Terapia de Protones/métodos , Radioisótopos de Yodo , Melanoma/cirugía , Agudeza Visual , Estudios Retrospectivos
8.
J Pers Med ; 13(2)2023 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-36836586

RESUMEN

(1) Background: The aim of this study was to analyze the sex differences in the treatment of uveal melanoma (UM) in a group of 1336 patients from a national referral center during the period 2018-2021. (2) Materials and Methods: The study was designed in a retrospective manner. A total of 1336 patients who were newly diagnosed with UM at the Department of Ophthalmology and Ophthalmic Oncology, Jagiellonian University Collegium Medicum, Krakow, Poland, between 1 January 2018 and 31 December 2021, were included in the study. The demographic and clinical data were compiled, including the sex of patients and the treatment methods. (3) Results: In total, 1336 patients with ocular melanoma were identified, including 726 women (54.34%) and 610 men (45.66%). A total of 49.70% of tumors were localized in the right eye and 50.30% in the left eye. UMs were localized statistically significantly more frequently posterior to the equator of the eye globe in men than in women (79.67% vs. 74.10%, Chi^2 Pearson test p = 0.035). Tumors tended to be larger in men, but this difference was not clinically significant. Men were enucleated more often than women (23.44% vs. 18.04%, Chi^2 Pearson test p = 0.015). (4) Conclusions: Statistically significant sex differences were found in the treatment of uveal melanoma in a national referral center in Poland, with men being enucleated more often than women.

9.
Melanoma Res ; 33(2): 104-115, 2023 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36719926

RESUMEN

There is no published data regarding the molecular alterations of Polish patients with primary uveal melanoma. We performed whole exome sequencing of 20 primary uveal melanomas (UMs), 10 metastasizing and 10 non-metastasizing cases to identify significant molecular alterations. We detected mutations and copy number variants in the BAP1 gene in 50% (10 cases) of the cases. GNA11 mutations were detected in 50% (10 cases) including nine p.Q209L and one p.R183C. GNAQ mutations gene were detected in 40% (8 cases) and all were p.Q209P. SF3B1, EIF1AX, PLCB4 , and PALB2 mutations were detected in one case each. Genetic aberrations of FBXW7 were detected in 55% of cases, with copy number loss of 10 and missense mutation in one. Gain or loss of copy number was observed in 60%, 60%, and 10% of cases in MYC, MLH1 , and CDKN2A genes, respectively. BAP1 and GNAQ tumor suppressor genes are more often mutated in UM with metastasis, while GNA11 mutations are more frequently detected in non-metastasizing tumors. MYC copy gain was present twice as frequently (80% versus 40%) in cases with versus those without metastases. BAP1 mutation correlated with worse overall survival; while GNA11 mutation and CDKN2A loss correlated with better and worse progression-free survival, respectively. We have confirmed BAP1 prognostic potential and documented frequent MYC amplification in metastasizing cases. Although GNA11 mutation and CDKN2A loss significantly correlated with progression-free survival in our study, our sample size is small. The prognostic significance of GNAQ/GNA11 mutation and CDKN2A loss would require further investigation.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Neoplasias de la Úvea , Humanos , Análisis Mutacional de ADN , Subunidades alfa de la Proteína de Unión al GTP/genética , Subunidades alfa de la Proteína de Unión al GTP/metabolismo , Subunidades alfa de la Proteína de Unión al GTP Gq-G11/genética , Subunidades alfa de la Proteína de Unión al GTP Gq-G11/metabolismo , Melanoma/patología , Mutación , Polonia , Ubiquitina Tiolesterasa , Neoplasias de la Úvea/genética
10.
Acta Ophthalmol ; 101(1): e81-e87, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35974455

RESUMEN

PURPOSE: We evaluated, in a real-life setting, the effect of Mydrane® (ready-to-use combination of tropicamide, phenylephrine hydrochloride and lidocaine, injected into the anterior chamber at the beginning of cataract surgery to induce mydriasis and intraocular anaesthesia) on the pupil diameter during cataract surgery in patients with a preoperative pupil diameter <6 mm after the use of topical mydriatics. METHODS: We collected and analysed the data of 59 consecutive patients whose pupils dilated to a diameter <6 mm after the administration of mydriatic eye drops during the preoperative visit and who received Mydrane® during cataract surgery. RESULTS: In the group of 59 patients with a preoperative pupil diameter <6 mm after topical mydriatics, cataract surgery was performed in 36 patients (61.0%) using only Mydrane® to obtain mydriasis, with no additional drug or medical device. The mean pupil diameters in this group (36 of 59) during the preoperative assessment after topical mydriatics and just before capsulorhexis when Mydrane® was injected during surgery were 5.1 ± 0.74 and 6.15 ± 1.14 mm. Additional drugs were used in 23 patients (39%). In this group, the mean pupil diameters after topical mydriatics and just before capsulorhexis using Mydrane® were 4.58 ± 1.06 and 5.6 ± 1.26 mm, respectively. CONCLUSION: In a real-life setting, the mean pupil diameter achieved during cataract surgery after the intracameral injection of Mydrane® in patients with a preoperative pupil diameter <6 mm was over 1 mm larger than the mean pupil diameter after topical mydriatics, despite the trauma caused by the operation.


Asunto(s)
Anestésicos , Catarata , Midriasis , Facoemulsificación , Humanos , Midriáticos , Tropicamida , Fenilefrina , Lidocaína , Soluciones Oftálmicas
11.
Eur J Cancer ; 174: 251-260, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36067618

RESUMEN

PURPOSE: Since molecular assays are not accessible to all uveal melanoma patients, we aim to identify cost-effective prognostic tool in risk stratification using machine learning models based on routine histologic and clinical variables. EXPERIMENTAL DESIGN: We identified important prognostic parameters in a discovery cohort of 164 enucleated primary uveal melanomas from 164 patients without prior therapies. We then validated the prognostic prediction of top important parameters identified in the discovery cohort using 80 uveal melanomas from the Tumor Cancer Genome Atlas database with available gene expression prognostic signature (GEPS). The performance of three different survival analysis models (Cox proportional hazards (CPH), random survival forest (RSF), and survival gradient boosting (SGB)) was compared against GEPS using receiver operating curves (ROC). RESULTS: In all three selection methods, BAP1 status, nucleoli size, age, mitotic rate per 1 mm2, and ciliary body infiltration were identified as significant overall survival (OS) predictors; and BAP1 status, nucleoli size, largest basal tumor diameter, tumor-infiltrating lymphocyte density, and tumor-associated macrophage density were identified as significant progression-free survival (PFS) predictors. ROC plots for the median survival time point showed that significant parameters in SGB studied model can predict OS better than GEPS. For PFS, SGB model performed similarly to GEPS. The time-dependent area under the curve (AUC) showed SGB model performing better than GEPS in predicting OS and metastatic risk. CONCLUSIONS: Our study shows that routine histologic and clinical variables are adequate for patient risk stratification in comparison with not readily accessible GEPS.


Asunto(s)
Melanoma , Neoplasias de la Úvea , Humanos , Aprendizaje Automático , Melanoma/patología , Pronóstico , Transcriptoma , Neoplasias de la Úvea/genética , Neoplasias de la Úvea/patología
12.
J Clin Med ; 11(14)2022 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-35887859

RESUMEN

BACKGROUND: The aim of the study was to perform a functional and structural evaluation of the anterior visual pathway in patients with Graves' Orbitopathy (GO) using electrophysiological tests and OCT, as well as to identify potential parameters that could be useful in detecting early optic nerve damage. METHODS: 47 GO patients were enrolled in the study and divided into three groups, depending on their disease severity: Group 1 with mild GO, Group 2 with moderate-to-severe GO, and Group 3 with dysthyroid optic neuropathy (DON). Pattern visual evoked potential (PVEP), flash visual evoked potential (fVEP), pattern electroretinogram (pERG), and optical coherence tomography (OCT) findings were compared between the groups. RESULTS: In the DON Group (Group 3), N75, P100, and P2 latencies were significantly extended, whereas P100, P50, and N95 amplitudes were significantly reduced as compared to the non-DON group (Groups 1 and 2). Group 3 also had significantly thinner peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell complex (GCC). In Group 2, as compared to Group 1, P100 amplitudes were significantly reduced for all check sizes, while P100 latency was elongated for the check size of 0.9°. Group 2 also had a significantly thinner average GCC and GCC in the superior quadrant. CONCLUSIONS: Electrophysiological examinations may be of use in diagnosis of DON. OCT findings and electrophysiological responses vary in patients with different GO severity. Including regular electrophysiological evaluation and OCT in the examination of patients with GO could be of benefit. However, more research is needed to establish the true significance of pVEP, fVEP, pERG, and OCT in monitoring patients with GO.

13.
Medicina (Kaunas) ; 58(7)2022 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-35888581

RESUMEN

Central serous chorioretinopathy (CSC) is a common chorioretinal disorder. It has been postulated that impaired retinal pigment epithelium and hyperpermeability of the choriocapillaris may be involved in the development of CSC, but the exact pathomechanism has not been established. We report an unusual case of a middle-aged man who developed CSC after triamcinolone acetonide injection for macular edema. Edema developed as a late complication of radiation retinopathy after brachytherapy for childhood retinoblastoma. Steroid treatment is an important risk factor for CSC, but the underlying causative mechanisms have not been fully elucidated. It is important to increase the awareness of this link among clinicians who prescribe exogenous corticosteroids, irrespective of the route of administration.


Asunto(s)
Coriorretinopatía Serosa Central , Corticoesteroides/efectos adversos , Coriorretinopatía Serosa Central/inducido químicamente , Coriorretinopatía Serosa Central/complicaciones , Niño , Coroides , Glucocorticoides , Humanos , Masculino , Persona de Mediana Edad , Epitelio Pigmentado de la Retina , Tomografía de Coherencia Óptica
14.
Cancers (Basel) ; 14(11)2022 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-35681733

RESUMEN

(1) Background: There is a constant search for new prognostic factors that would allow us to accurately determine the prognosis, select the type of treatment, and monitor the patient diagnosed with uveal melanoma in a minimally invasive and easily accessible way. Therefore, we decided to evaluate the prognostic role of its pigmentation in a clinical assessment. (2) Methods: The pigmentation of 154 uveal melanomas was assessed by indirect ophthalmoscopy. Two groups of tumours were identified: amelanotic and pigmented. The statistical relationships between these two groups and clinical, pathological parameters and the long-term survival rate were analyzed. (3) Results: There were 16.9% amelanotic tumours among all and they occurred in younger patients (p = 0.022). In pigmented melanomas, unfavourable prognostic features such as: epithelioid cells (p = 0.0013), extrascleral extension (p = 0.027), macronucleoli (p = 0.0065), and the absence of BAP1 expression (p = 0.029) were statistically more frequently observed. Kaplan−Meier analysis demonstrated significantly better overall (p = 0.017) and disease-free (p < 0.001) survival rates for patients with amelanotic tumours. However, this relationship was statistically significant for lower stage tumours (AJCC stage II), and was not present in larger and more advanced stages (AJCC stage III). (4) Conclusions: The results obtained suggested that the presence of pigmentation in uveal melanoma by indirect ophthalmoscopy was associated with a worse prognosis, compared to amelanotic lesions. These findings could be useful in the choice of therapeutic and follow-up options in the future.

15.
Medicina (Kaunas) ; 58(5)2022 May 13.
Artículo en Inglés | MEDLINE | ID: mdl-35630075

RESUMEN

Background and Objectives: To assess the association between the single nucleotide polymorphisms (SNPs) in the genes encoding complement factors CFH, C2, and C3 (Y402H rs1061170, R102G rs2230199, and E318D rs9332739, respectively) and response to intravitreal anti-vascular endothelial growth factor (VEGF) therapy in patients with exudative age-related macular degeneration (AMD). Materials and Methods: The study included 111 patients with exudative AMD treated with intravitreal bevacizumab or ranibizumab injections. Response to therapy was assessed on the basis of best-corrected visual acuity (BCVA) and central retinal thickness (CRT) measured every 4 weeks for 12 months. The control group included 58 individuals without AMD. The SNPs were genotyped by a real-time polymerase chain reaction in genomic DNA isolated from peripheral blood samples. Results: The CC genotype in SNP rs1061170 of the CFH gene was more frequent in patients with AMD than in controls (p = 0.0058). It was also more common among the 28 patients (25.2%) with poor response to therapy compared with good responders (p = 0.0002). Poor responders, especially those without this genotype, benefited from switching to another anti-VEGF drug. At the last follow-up assessment, carriers of this genotype had significantly worse BCVA (p = 0.0350) and greater CRT (p = 0.0168) than noncarriers. TT genotype carriers showed improved BCVA (p = 0.0467) and reduced CRT compared with CC and CT genotype carriers (p = 0.0194). No associations with AMD or anti-VEGF therapy outcomes for SNP rs9332739 in the C2 gene and SNP rs2230199 in the C3 gene were found. Conclusions: The CC genotype for SNP rs1061170 in the CFH gene was associated with AMD in our population. Additionally, it promoted a poor response to anti-VEGF therapy. On the other hand, TT genotype carriers showed better functional and anatomical response to anti-VEGF therapy at 12 months than carriers of the other genotypes for this SNP.


Asunto(s)
Bevacizumab , Factor H de Complemento , Degeneración Macular , Bevacizumab/uso terapéutico , Factor H de Complemento/genética , Genotipo , Humanos , Degeneración Macular/tratamiento farmacológico , Degeneración Macular/genética , Polimorfismo de Nucleótido Simple
16.
J Clin Med ; 11(8)2022 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-35456233

RESUMEN

We aimed to assess the cosmetic outcome of patients who underwent enucleation for uveal melanoma. The subjective assessment was based on a questionnaire, including four questions on postoperative cosmetic outcome. As part of the objective assessment, the following features were evaluated using a four-point scale: the symmetry of the upper eyelid sulcus, color matching between the prosthetic and healthy eye, prosthetic eye motility, and eyelid position. We enrolled 90 patients after enucleation (58 with and 32 without an orbital implant). The overall subjective assessment scores were 3.5/4 and 3.3/4 points in patients with and without an implant, respectively. The overall objective assessment scores were 3.3/4 and 2.3/4 in patients with and without an implant, respectively (p < 0.001). The cosmetic outcome was rated significantly higher by patients than by investigators (p < 0.05). There was no significant association between the overall subjective and objective assessment of the cosmetic outcome in any of the groups. Cosmetic outcome after enucleation for uveal melanoma was highly rated by patients. It was rated higher by patients than by investigators. The presence of an orbital implant was associated with higher objective assessment scores in terms of the symmetry of the upper lid sulcus, prosthetic eye motility, and eyelid position.

17.
J Clin Med ; 11(8)2022 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-35456355

RESUMEN

Central retinal artery occlusion (CRAO) is an emergency state characterized by sudden, painless vision impairment. Patients with CRAO have an increased risk of cardiovascular events, including stroke, likely related to vascular endothelial damage. Therefore, we investigated flow-mediated dilatation (FMD) of the brachial artery as a marker of endothelial dysfunction, intima-media complex thickness (IMT) of the common carotid artery, pointing to the arterial wall atherosclerotic alteration, and transthoracic echocardiographic parameters in 126 consecutive CRAO patients (66 men [52.4%], median age 55 years) and 107 control participants (56 men [52.3%], matched by age, sex, and body mass index). Most CRAO patients (n = 104, 82.5%) had at least one internal medicine comorbidity, mainly hypercholesterolemia and hypertension, which coexisted in one-fourth of them. Furthermore, they had a 38.2% lower relative increase of FMD (FMD%) and a 23.1% thicker IMT compared to the controls (p < 0.001, both, also after adjustment for potential confounders). On echocardiography, the CRAO group was characterized by increased dimensions of the left atrium and thicker left ventricular walls, together with impaired left ventricular diastolic function. CRAO is related to vascular endothelial damage, atherosclerosis, and left ventricular diastolic cardiac dysfunction. Thus, non-invasive ultrasound assessments, such as FMD%, IMT, and echocardiography, may be helpful in screening patients with increased CRAO risk, particularly those with other comorbidities.

18.
Adv Clin Exp Med ; 31(6): 615-621, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35349230

RESUMEN

BACKGROUND: Oncology trends are based on data coming from different countries and ocular melanoma is the most common primary eye cancer in adults. OBJECTIVES: To investigate the incidence and characteristics of ocular melanoma in the overall population of Poland. MATERIAL AND METHODS: The retrospective survey of both the National Cancer Registry (NCR) and National Health Fund (NHF) databases was performed to identify all ocular melanoma cases in Poland in 2010-2017. RESULTS: The mean incidence of ocular melanoma was 8.76/1,000,000 person-years; the lowest incidence was observed in the 19-29 age group (1.17/1,000,000 person-years) and the highest in the group over 70 (22.88/1,000,000 person-years). There were no statistically significant trends in the incidence rates over the study period. The overall incidences of uveal, eyelid and conjunctival melanoma were 6.67/1,000,000, 0.47/1,000,000 and 0.28/1,000,000 person-years, respectively. The 5-year overall survival (OS) was 60.76%; the higher risk of death was associated with male sex (hazard ratio (HR) = 1.2959), older age at diagnosis (HR = 1.0379), chemotherapy treatment (HR = 1.6774), metastasis (HR = 1.5716), loco-regional hyperplasia (HR = 1.5936), and systemic tumor spread (HR = 3.9872), compared to the carcinoma in situ. The risk of death was reduced by radiotherapy treatment (HR = 0.6645). CONCLUSIONS: The incidence rate of ocular melanoma in Poland is in the middle of the range worldwide, and the 5-year OS is relatively low.


Asunto(s)
Neoplasias del Ojo , Melanoma , Adulto , Neoplasias del Ojo/epidemiología , Neoplasias del Ojo/terapia , Humanos , Incidencia , Masculino , Melanoma/epidemiología , Melanoma/patología , Melanoma/terapia , Polonia/epidemiología , Sistema de Registros , Estudios Retrospectivos , Tasa de Supervivencia
19.
Endocrine ; 75(2): 427-436, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34542802

RESUMEN

PURPOSE: Despite progress in type 1 diabetes (T1DM) therapy, diabetic retinopathy (DR) is still a common complication. We analysed predictors and prevalence of DR in patients with T1DM lasting 10 years or more. All of the patients were considered to be currently in excellent glycemic control and treated using modern therapies. METHODS: Study included 384 (80.7% women) T1DM patients participating in the Program of Comprehensive Outpatient Specialist Care at the University Hospital in Krakow between the years 2014 and 2020. A retrospective analysis of medical records was conducted. RESULTS: The patients were on average 34 ± 9.2 years old, had a BMI 25.0 ± 3.9 and a T1DM duration of 20.5 ± 7.9 years. The mean level of HbA1c throughout the follow-up (mean duration 4.9 ± 1.4 years) was 6.9 ± 1%. The group included 238 (62.0%) patients treated with insulin pumps and 99 (25.8%) on multiple daily injections, 47 (12.2%) used both methods; almost all patients were on insulin analogues. DR was confirmed in 150 (39.1%) patients, from which 109 (28.4%) were diagnosed de novo. Severe DR was occurred in just 31 cases (8.1%). In the multivariate logistic regression, independent risk factors for the presence of DR were T1DM duration (OR 1.13; 95% CI, 1.09-1.19), HbA1c level (OR 1.41; 95% CI, 1.08-1.84), LDL level (OR 1.79; 95% CI, 1.16-2.87), and the combined presence of non-DR micro- and macrovascular chronic complications (OR 1.86; 95% CI, 1.16-3.03). CONCLUSIONS: In this highly-selected group of T1DM patients, mostly female, the prevalence of both DR at any stage and severe DR was lower than earlier reported results from other cohorts. Independent risk factors for the DR cohort did not differ from previously reported studies.


Asunto(s)
Diabetes Mellitus Tipo 1 , Retinopatía Diabética , Adulto , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/epidemiología , Retinopatía Diabética/epidemiología , Retinopatía Diabética/etiología , Femenino , Hemoglobina Glucada , Control Glucémico , Humanos , Masculino , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
20.
Medicina (Kaunas) ; 57(11)2021 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-34833494

RESUMEN

We report an unprecedented case of a young patient with epilepsy coexisting with acute zonal occult outer retinopathy (AZOOR), a rare white dot syndrome of unknown etiology, associated with damage to the large zones of the outer retina. Recently, it has been established that epileptic episodes contribute to an inflammatory response both in the brain and the retina. A 13-year-old male patient with epilepsy was referred by a neurologist for an ophthalmologic consultation due to a sudden deterioration of visual acuity in the left eye. The examination, with a key role of multimodal imaging including color fundus photography, fluorescein angiography, indocyanine green angiography (ICGA), fundus autofluorescence (FAF), swept-source optical coherence tomography (SS-OCT) with visual field assessment, and electroretinography indicated AZOOR as the underlying entity. Findings at the first admission included enlargement of the blind spot in visual field examination along a typical trizonal pattern, which was revealed by FAF, ICGA, and SS-OCT in the left eye. The right eye exhibited no abnormalities. Seminal follow-up revealed no changes in best corrected visual acuity, and multimodal imaging findings remain unaltered. Thus, no medical intervention is required. Our case and recent laboratory findings suggest a causative link between epilepsy and retinal disorders, although this issue requires further research.


Asunto(s)
Epilepsia , Síndromes de Puntos Blancos , Adolescente , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Estudios de Seguimiento , Humanos , Masculino , Escotoma/diagnóstico , Escotoma/etiología , Tomografía de Coherencia Óptica
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