scholarly journals Polymorphic markers of the G1639A form of VKORC1 involved in the development of retinal vessel occlusion

2016 ◽  
Vol 9 (3) ◽  
pp. 5-9
Author(s):  
Larisa K. Moshetova ◽  
Shushanik S. Kaghktsyan ◽  
Dmitry A. Sichev ◽  
Kseniya I. Turkina ◽  
Elena A. Grishina ◽  
...  

Background. Retinal vessel occlusion (RVO) is an eye disease that leads to decreased visual acuity, ultimately resulting in blindness. RVO is observed in 1%–2% of individuals older than 40 years. The etiology of RVO remains unclear. However, the most widely recognized risk factors include age, hypertension, hyperlipidemia, atherosclerosis, cardiovascular diseases, and diabetes. The number of patients with RVO among the young population has increased in recent years, and owing to this increased incidence, more attention is paid to genetic factors. Polymorphisms in the genes encoding proteins involved in the vitamin K cycle are one of these genetic factors that might influence RVO. According to literature, the G1639A polymorphism in the vitamin K epoxide reductase complex subunit 1 (VKORC1) is a possible risk factor for RVO.  The purpose of the study. To estimate the association between carriers of the G1639A form of VKORC1 and the development of venous RVO (VRVO) and arterial RVO (ARVO). Materials and methods. The study included 126 patients aged between 40 and 80 years, with a mean age of 61.5 years. Genotyping for the presence of the G1639A polymorphism of VKORC1 was performed using polymerase chain reaction (PCR). Statistical analysis was performed using the program Instat. Results. The GG genotype was found to be significantly more frequently in patients with VRVOthan in those without pathology of retinal vessels (42.6 vs 32%, p = 0.0449). The GG genotype was observed at a higher frequency in patients with ARVO than in those without pathology of retinal vessels (60 versus 32%, p = 0.0925). However, having the AA form of G1639A was significantly less frequent in patients with VRVO compared with those without vascular pathology of the retina (9.8 vs 28%, p = 0.0238, RR 2.015, 95% confidence interval 1.011–4.16). The AA genotype was observed at a lower frequency in patients with ARVO than the control group (6.7 vs 28%,  p = 0.1593). Conclusions. Our study demonstrates that having the GG form of the G1639A polymorphism of VKORC1 is associated with the development of VRVO and possibly ARVO. However, having the AA form of this polymorphism is associated with a lower risk of developing VRVO and may also be associated with a lower risk of developing ARVO.

Medicina ◽  
2020 ◽  
Vol 56 (6) ◽  
pp. 308 ◽  
Author(s):  
Gabriele Savioli ◽  
Iride Francesca Ceresa ◽  
Sabino Luzzi ◽  
Cristian Gragnaniello ◽  
Alice Giotta Lucifero ◽  
...  

Background and objectives: Anticoagulants are thought to increase the risks of traumatic intracranial injury and poor clinical outcomes after blunt head trauma. The safety of using direct oral anticoagulants (DOACs) compared to vitamin K antagonists (VKAs) after intracranial hemorrhage (ICH) is unclear. This study aims to compare the incidence of post-traumatic ICH following mild head injury (MHI) and to assess the need for surgery, mortality rates, emergency department (ED) revisit rates, and the volume of ICH. Materials and Methods: This is a retrospective, single-center observational study on all patients admitted to our emergency department for mild head trauma from 1 January 2016, to 31 December 2018. We enrolled 234 anticoagulated patients, of which 156 were on VKAs and 78 on DOACs. Patients underwent computed tomography (CT) scans on arrival (T0) and after 24 h (T24). The control group consisted of patients not taking anticoagulants, had no clotting disorders, and who reported an MHI in the same period. About 54% in the control group had CTs performed. Results: The anticoagulated groups were comparable in baseline parameters. Patients on VKA developed ICH more frequently than patients on DOACs and the control group at 17%, 5.13%, and 7.5%, respectively. No significant difference between the two groups was noted in terms of surgery, intrahospital mortality rates, ED revisit rates, and the volume of ICH. Conclusions: Patients with mild head trauma on DOAC therapy had a similar prevalence of ICH to that of the control group. Meanwhile, patients on VKA therapy had about twice the ICH prevalence than that on the control group or patients on DOAC, which remained after correcting for age. No significant difference in the need for surgery was determined; however, this result must take into account the very small number of patients needing surgery.


2018 ◽  
Vol 1 (1) ◽  
pp. 75-79
Author(s):  
Emmi Kokki ◽  
Tommi Karttunen ◽  
Sanna Kettunen ◽  
Kati Kinnunen ◽  
Guido R.Y. De Meyer ◽  
...  

Aim: Transgenic mice with an elastic fiber mutation (C1039G+/-) in the fibrillin-1 gene and apolipoprotein E deficiency express vulnerable atherosclerotic plaque formation in the aorta and coronary and carotid arteries. The fibrillin-1 gene mutation alone leads to impaired fibrillin-1 function common to Marfan syndrome. The aim was to study for the first time the potential effects of atherosclerosis and vulnerable plaques in mouse eye and spontaneous retinal vessel occlusions in these mice.Methods: Apolipoprotein E-deficient and fibrillin-1 mutated mice (ApoE-/-/Fbn1C1039G+/-) were used for the study. ApoE-/- littermates served as controls. Optical coherence tomography and fluorescein angiography were used to study the retina and retinal vessels before and after the 12-week high-fat diet. Series of staining were performed to study morphology, apoptosis, glial fibrillary acidic protein activation, collagen formation, inflammatory cell infiltration and drusen formation.Results: No pathological changes were found in hypercholesterolemic ApoE-/-/Fbn1C1039G+/- mice in imaging studies nor in the histological stainings. There was neither abnormality in the retinal morphology nor any detectable biomarkers.Conclusion: ApoE-/-/Fbn1C1039G+/- mice did not present the ocular signs of Marfan syndrome.12-week high-fat diet is not sufficient to induce retinal vessel occlusion on 20 to 23 weeks old mice. This indicates that the mechanistic background of retinal vessel occlusion is more complex.


2019 ◽  
Vol 44 (12) ◽  
pp. 1337-1344 ◽  
Author(s):  
Jakrin Kewcharoen ◽  
Elysse S. Tom ◽  
Chonlanan Wiboonchutikula ◽  
Angkawipa Trongtorsak ◽  
Chutikarn Wittayalikit ◽  
...  

Author(s):  
Paul Reidler ◽  
Lena Stueckelschweiger ◽  
Daniel Puhr-Westerheide ◽  
Katharina Feil ◽  
Lars Kellert ◽  
...  

Abstract Purpose Computed tomography angiography (CTA) is routinely used to detect large-vessel occlusion (LVO) in patients with suspected acute ischemic stroke; however, visual analysis is time consuming and prone to error. To evaluate solutions to support imaging triage, we tested performance of automated analysis of CTA source images (CTASI) at identifying patients with LVO. Methods Stroke patients with LVO were selected from a prospectively acquired cohort. A control group was selected from consecutive patients with clinically suspected stroke without signs of ischemia on CT perfusion (CTP) or infarct on follow-up. Software-based automated segmentation and Hounsfield unit (HU) measurements were performed on CTASI for all regions of the Alberta Stroke Program Early CT score (ASPECTS). We derived different parameters from raw measurements and analyzed their performance to identify patients with LVO using receiver operating characteristic curve analysis. Results The retrospective analysis included 145 patients, 79 patients with LVO stroke and 66 patients without stroke. The parameters hemispheric asymmetry ratio (AR), ratio between highest and lowest regional AR and M2-territory AR produced area under the curve (AUC) values from 0.95–0.97 (all p < 0.001) for detecting presence of LVO in the total population. Resulting sensitivity (sens)/specificity (spec) defined by the Youden index were 0.87/0.97–0.99. Maximum sens/spec defined by the specificity threshold ≥0.70 were 0.91–0.96/0.77–0.83. Performance in a small number of patients with isolated M2 occlusion was lower (AUC: 0.72–0.85). Conclusion Automated attenuation measurements on CTASI identify proximal LVO stroke patients with high sensitivity and specificity. This technique can aid in accurate and timely patient selection for thrombectomy, especially in primary stroke centers without CTP capacity.


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