The Second Team Haemophilia Education Meeting, 2016, Frankfurt, Germany

The first Team Haemophilia Education (THE) Meeting was held on 7-8 May 2015 in Amsterdam, The Netherlands. It aimed to promote the optimal care of patients with haemophilia through education of the multidisciplinary treatment team. This was achieved by reviewing the latest developments in haemophilia management, considering how these can be implemented in the clinic to improve patient care and providing a platform for networking and debate for all haemophilia treatment team members. The second THE Meeting was held on 19-20 May in Frankfurt, Germany, and participants included doctors, nurses, physiotherapists, patient representatives and data management staff from 20 different countries. Topics covered the role of the multidisciplinary team in delivering the best haemophilia care, challenges in the management of haemophilia across Europe, available clotting factor treatments, future treatments and the use of genetics in advising carriers of haemophilia. This report is a summary of the key developments in haemophilia care presented by various investigators and healthcare professionals at THE Meeting 2016.info:eu-repo/semantics/publishedVersio

RAGE Expression in Human T Cells: A Link between Environmental Factors and Adaptive Immune Responses

The Receptor for Advanced Glycation Endproducts (RAGE) is a scavenger ligand that binds glycated endproducts as well as molecules released during cell death such as S100b and HMGB1. RAGE is expressed on antigen presenting cells where it may participate in activation of innate immune responses but its role in adaptive human immune responses has not been described. We have found that RAGE is expressed intracellularly in human T cells following TCR activation but constitutively on T cells from patients with diabetes. The levels of RAGE on T cells from patients with diabetes are not related to the level of glucose control. It co-localizes to the endosomes. Its expression increases in activated T cells from healthy control subjects but bystander cells also express RAGE after stimulation of the antigen specific T cells. RAGE ligands enhance RAGE expression. In patients with T1D, the level of RAGE expression decreases with T cell activation. RAGE+ T cells express higher levels of IL-17A, CD107a, and IL-5 than RAGE− cells from the same individual with T1D. Our studies have identified the expression of RAGE on adaptive immune cells and a role for this receptor and its ligands in modulating human immune responses

Evaluation of macular function and morphology following accelerated collagen cross-linking in progressive keratoconus

Purpose: To assess any changes in macular function and morphology in patients with progressive keratoconus undergoing accelerated corneal cross-linking (CXL). Methods: This prospective case series included 9 eyes of 8 patients with progressive keratoconus undergoing CXL using a high intensity accelerated protocol (9 mW/cm2 for 14 min) with a total surface dose of 7.5 J/cm2. Visual acuity assessment, slit lamp biomicroscopy, dilated fundoscopy, corneal tomography, multifocal electroretinography (mfERG) and spectral domain optical coherence tomography scan were performed at baseline, 2 weeks and 6 weeks postoperatively. Results: Uncorrected and corrected distance visual acuity did not change significantly at 2 weeks and 6 weeks following accelerated CXL compared to baseline. Retinal response density (RRD) of mfERG significantly decreased at 2 weeks postoperatively compared to baseline (p = 0.008) but did not differ from the baseline value at 6 weeks postoperatively in the fovea (ring 1) (p = 0.95). Similarly, P1 latency significantly decreased at 2 weeks (p = 0.04) but did not change at 6 weeks (p = 1.00) postoperatively compared to baseline in the fovea. No changes in RRD or P1 latency were observed in the retinal rings surrounding the fovea (rings 2 to 5). Central foveal thickness did not change at 2 weeks and 6 weeks postoperatively compared to baseline (p = 0.53 and p = 0.93, respectively). Conclusions: A short-term reversible decrease in macular electrical activity without any structural changes seems to occur after accelerated CXL in patients with progressive keratoconus. The return of macular response to the preoperative values shows the safety of the CXL protocol. © The Author(s) 2022

Large retinectomies for retinal detachment complicated by proliferative vitreoretinopathy: Anatomical and functional outcome of silicone oil versus perfluoropropane gas

Purpose: To assess the anatomic and functional outcomes of eyes undergoing vitrectomy and large retinectomy for the management of retinal detachment (RD) complicated by advanced proliferative vitreoretinopathy (PVR). Methods: A total of 66 eyes of 63 patients with RD complicated by PVR were treated with vitrectomy and 180° or more retinectomy and silicone oil (n=46) or perfluoropropane gas (n=20) were used as intraocular tamponades. Results: Retinal reattachment was achieved in 89.39% (59 eyes) of the cases. The mean follow-up was 33.7 months (range 12–76 months). In gas-filled eyes, the final anatomic success rate was 85% (17 eyes) and in silicone oil-filled eyes was 91.3% (42 eyes) (p=0.46). After the initial retinectomy, the total anatomic success rate was 80.3% (53/66 eyes), 70% in gas-filled eyes (14/20 eyes) and 84.79% in silicone oil-filled eyes (39/46 eyes) (p=0.19). Visual acuity (VA) improved in 37 (56.06%) eyes, remained the same in 19 (28.78%) eyes and became worse in 10 (15.15%) cases. Best corrected VA was ≥20/200 in 22 eyes 33.33%. The final VA was associated with the preoperative VA (r=0.68), the preoperative status of the macula influence significantly the final visual acuity (p<0.0001) and there is statistically significant difference in the final visual acuity between eyes with and without anatomic success (p<0.05). Conclusion: The large circumferential retinectomies can be beneficial in eyes with RD complicated by advanced PVR. No significant difference was found in anatomic success rate, and rate of complications between eyes with silicone oil tamponade and long acting gas undergoing large retinectomy. Regarding the final BCVA, slight difference was found in favor of gas-filled eyes. © 2020 Dimitrios et al

The role of histone deacetylase inhibitors in uveal melanoma: Current evidence

Uveal melanoma is the most common intraocular malignancy in adults, representing approximately 3% of all melanoma cases. Despite progress in chemotherapy, radiation and surgical treatment options, the prognosis and survival rates remain poor. Acetylation of histone proteins causes transcription of genes involved in cell growth, DNA replication and progression of cell cycle. Overexpression of histone deacetylases occurs in a wide spectrum of malignancies. Histone deacetylase inhibitors block the action of histone deacetylases, leading to inhibition of tumor cell proliferation. This article reviewed the potential therapeutic effects of histone deacetylase inhibitors on uveal melanoma. MEDLINE database was used under the key words/phrases: histone deacetylase, inhibitors, uveal melanoma and targeted therapies for uveal melanoma. A total of 47, English articles, not only referring to uveal melanoma, published up to February 2018 were used. Valproic acid, trichostatin A, tenovin-6, depsipeptide, panobinostat (LBH-589), vorinostat (suberanilohydroxamic acid) entinostat (MS-275), quisinostat, NaB, JSL-1, MC1568 and MC1575 are histone deacetylase inhibitors that have demonstrated promising antitumor effects against uveal melanoma. Histone deacetylase inhibitors represent a promising therapeutic approach for the treatment of uveal melanoma. © 2018 International Institute of Anticancer Research. All rights reserved

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

Glaucoma is a progressive optic neuropathy resulting from retinal ganglion cells death; it represents one of the leading causes of irreversible blindness worldwide. Although, primary open angle glaucoma (POAG) is the most common type of the disease, the pathogenesis of POAG and the genetic factors contributing to disease development remain poorly understood. The aim of this study was to investigate whether the polymorphisms rs76481776 in miR182 gene and rs3217992 in cyclin-dependent kinase inhibitor-2B (CDKN2B) gene are risk factors for POAG in a series of patients of Greek origin. A case-control study was conducted including 120 patients with POAG and 113 unaffected healthy controls of Greek origin, surveyed for polymorphisms with potential correlation to POAG. DNA from each individual was tested for the miR182 rs76481776 and CDKN2B rs3217992 polymorphisms. Regarding the miR182 rs76481776 polymorphism, the T allele occurred with significantly higher frequency in POAG patients compared to controls (OR: 2.62, 95% CI: 1.56-4.39; p = 0.0002). The CDKN2B rs3217992 A allele frequency was found significantly increased in POAG patients compared to healthy individuals (OR: 1.72, 95% CI: 1.18-2.49; p = 0.005). Therefore, both rs76481776 polymorphism in miR182 gene and rs3217992 polymorphism in CDKN2B gene seem to be associated with the development of POAG in a Greek population. The carriers of the T allele of rs76481776 in miR182 and the carriers of the A allele of rs3217992 in CDKN2B have an increased risk of developing POAG. © 2020 Moschos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Distribution and expression of the adhesion molecule CD44 on human corneal grafts is not altered by chemotherapy

Background/Aim: Acceptance of corneas from donors with a malignancy remains controversial, especially for donors with hematological malignancy. The aim of our study was to examine, for the first time in literature, any structural differences in the integrity of the corneal grafts from donors who have received and from those who have not received chemotherapy. Materials and Methods: The immunohistochemical expression of CD44 was examined in 12 corneal grafts obtained from 8 donors. Three grafts were obtained from 2 donors who had received chemotherapy and the rest were obtained from 6 donors who had not received any kind of chemotherapy. Results: Epithelial cells expressed the CD44 molecule in all grafts of both groups. No CD44 expression was noticed on endothelial cells or in the stroma. Conclusion: Tumorigenesis and the consequent chemotherapy did not affect the structure and integrity of the corneal tissue in the examined samples. We suggest that corneal grafts from cancer donors are safe and functionally equals to grafts obtained from non-cancer donors. © 2020 International Institute of Anticancer Research. All rights reserved

Distribution and expression of the adhesion molecule CD44 on human corneal grafts is not altered by chemotherapy

Background/Aim: Acceptance of corneas from donors with a malignancy remains controversial, especially for donors with hematological malignancy. The aim of our study was to examine, for the first time in literature, any structural differences in the integrity of the corneal grafts from donors who have received and from those who have not received chemotherapy. Materials and Methods: The immunohistochemical expression of CD44 was examined in 12 corneal grafts obtained from 8 donors. Three grafts were obtained from 2 donors who had received chemotherapy and the rest were obtained from 6 donors who had not received any kind of chemotherapy. Results: Epithelial cells expressed the CD44 molecule in all grafts of both groups. No CD44 expression was noticed on endothelial cells or in the stroma. Conclusion: Tumorigenesis and the consequent chemotherapy did not affect the structure and integrity of the corneal tissue in the examined samples. We suggest that corneal grafts from cancer donors are safe and functionally equals to grafts obtained from non-cancer donors. © 2020 International Institute of Anticancer Research. All rights reserved

Electrophysiological assessment for early detection of retinal dysfunction in β-thalassemia major patients

Purpose: The purpose of this study was to assess the role of various diagnostic tests in early detection of retinal changes in β-thalassemia major patients. Methods: Thirty-eight visually asymptomatic β-thalassemia major patients receiving regular blood transfusions and iron-chelation therapy with deferoxamine (group A, n = 13), deferasirox (group B, n = 11) or deferoxamine with deferiprone (group C, n = 14) and fourteen age- and sex- matched healthy individuals were included in the study. All participants underwent ophthalmoscopy, full-field electroretinography (ERG), visual evoked potentials (VEP), multifocal electroretinography (mfERG), fundus autofluorescence (FAF) imaging and optical coherence tomography (OCT) scans. Results: Retinal pigment epithelium changes were present in two cases. Scotopic ERG demonstrated decreased a-wave amplitude in groups A, B and C (p = 0.03, p = 0.002 and p = 0.002, respectively) and decreased b-wave amplitude in groups B and C (p = 0.002 and p = 0.01, respectively) compared to controls. Photopic ERG showed delayed b-wave latency in groups A and C (p = 0.03 and p = 0.03, respectively) ERG maximal combined response and VEP response did not differ between groups. MfERG showed reduced retinal response density in ring 1 in groups A, B, C (p < 0.001, p < 0.001, p = 0.001, respectively) and ring 2 in group B (p = 0.02) and delayed latency in ring 5 in groups A and B (p = 0.04 and p = 0.04, respectively). Abnormal FAF images appeared in three cases and OCT abnormalities in one case, whereas no changes were observed in controls (p = 0.55 and p = 1.00, respectively). Conclusions: Full-field ERG and mfERG are more sensitive tools for detecting early retinal changes in β-thalassemia patients compared with ophthalmoscopy, VEP, FAF imaging and OCT scans. © 2017, Springer-Verlag Berlin Heidelberg