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This mixed-method study explored the experiences of mothers and fathers combining breastfeeding with returning to paid employment after childbirth. Tasmanian State Service employees participated in an online survey and phone interviews. A total of 130 parents completed the survey, and 42 participated in 60-min phone interviews. The survey had more female respondents (109) than male (21), and only 4 of the 42 interviews were with fathers. The sample consisted mainly of professional women (84%) and men (16%), predominantly Australian-born (88%). Two-thirds of participants worked part-time (62%), taking either unpaid (52%) or paid leave (61%) within the first 12 months after birth. The majority (88%) preferred to breastfeed, with the mean age of the first formula feed being 4.1 months. A narrative analysis of the qualitative data, informed by work-family conflict theory, reveals that transitioning back to paid work while breastfeeding is challenging for both mothers and fathers. Parents face multiple conflicts between paid work, family responsibilities and maintaining breastfeeding. The emotional and physical demands of feeding, expressing, storing and transporting breast milk, combined with often inadequate workplace facilities, policies and gender discrimination, add to parental pressure. Mothers bear the greatest burden, while fathers' roles and needs are often overlooked in the workplace. The major finding of this study is that breastfeeding is insufficiently recognised as an integral part of the return-to-work process for both parents, generating a form of work-family breastfeeding conflict, where work (part-time or full-time) interferes with family responsibilities and breastfeeding. Family-friendly breastfeeding policies based on equity principles are needed to address workplace gender inequality and discrimination and better support parents in combining work and breastfeeding., (© 2024 The Author(s). Maternal & Child Nutrition published by John Wiley & Sons Ltd.)

Background and Objectives : Recent studies have focused on the association between the risk of diabetic retinopathy (DR) and the rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene; however, their results remain inconclusive. Thus, a systematic review and meta-analysis were carried out to clarify the role of these polymorphisms in the development of DR. Materials and Methods : A systematic search of electronic databases (PubMed, Scopus, and Cochrane Library) was conducted until 25 June 2024, and a reference list of relevant articles was collected, which explored the association between the rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene and the risk of DR. The pooled odds ratios (OR) and 95% confidence intervals (CI) were estimated via random-effects model, and the meta-analysis was implemented by using Review Manager 5.4. Results : In total, 6 out of 182 studies, with 1888 cases (DR) and 2285 controls (without DR), were included in the meta-analysis. A statistically significant association between the rs1501299 polymorphism and the DR risk was recorded in G vs. T in the overall analysis (OR = 0.84, 95% CI = 0.72-0.99, p = <0.05, I 2 = 23%, n = 5 studies). Additionally, the summary results in the subgroup analysis according to the control type were as follows: the DR versus diabetes mellitus (DM) control type revealed a statistically significant association in G vs. T: OR = 0.81, 95% CI = 0.67-0.97, p = <0.05, I 2 = 27%, n = 4 studies; GG vs. GT: OR = 0.72, 95% CI = 0.53-0.98, p = <0.05, I 2 = 49%, n = 4 studies; GG vs. (GT + TT): OR = 0.73, 95% CI = 0.55-0.96, p = <0.05, I 2 = 44%, n = 4 studies. No significant association was observed between the rs2241766 polymorphism and the DR risk. Conclusions : The current meta-analysis supports the association between the rs1501299 polymorphism of the ADIPOQ gene and the DR risk in patients with DM.

Rationale: Theoretically, most strokes could be prevented through the management of modifiable risk factors. The Stroke Riskometer™ mobile phone application (hereon "The App") uses an individual's data to provide personalized information and advice to reduce their risk of stroke., Aims: To determine the effect of The App on a combined cardiovascular risk score (Life's Simple 7 ® , LS7) of modifiable risk factors at 6 months post-randomization., Methods and Design: PERKS-International is a Phase III, multicentre, prospective, pragmatic, open-label, single-blinded endpoint, two-arm randomized controlled trial (RCT). Inclusion criteria are as follows: age ⩾ 35 and ⩽75 years; ⩾2 LS7 risk factors; smartphone ownership; no history of stroke/myocardial infarction/cognitive impairment/terminal illness. The intervention group (IG) will be provided with The App, and the usual care group (UCG) is provided with generic online information about risk factors, but not be informed about The App. Face-to-face assessments will be conducted at baseline and 6 months, and online at 3 and 12 months. The RCT includes a process and economic evaluation., Study Outcomes and Sample Size: The primary outcome is a difference in the mean change in LS7 (seven individual items: blood pressure, cholesterol, glucose, body mass index (BMI), smoking, physical activity, and diet) from baseline to 6 months post-randomization with intention-to-treat analysis. Secondary outcomes include: change in individual LS7 items, quality of life; stroke awareness, adverse events; health service use; and costs. Based on pilot data, 790 participants (395 IG, 395 UCG) will be required to provide 80% power (two-sided α = 0.05) to detect a mean difference in the LS7 of ⩾0.40 (SD 1.61) in IG compared to 0.01 (SD 1.44) in the UCG at 6 months post-randomization., Discussion: Stroke is largely preventable. This study will provide evidence of the effectiveness of a mobile app to reduce stroke risk., Trial Registration: ACTRN12621000211864.

Background : The purpose of this study was to evaluate the clinical outcomes in patients with primary open-angle glaucoma (POAG) and coexistent cataract treated with phacoemulsification cataract surgery, either alone or in combination with trabeculectomy. Methods : Participants in this retrospective study were 52 patients diagnosed with previously controlled POAG and coexistent cataract, who underwent either uneventful phacoemulsification cataract surgery (Group I, n = 27) or combined uneventful phacoemulsification cataract surgery and trabeculectomy (Group II, n = 25), with at least a 24-month postoperative follow-up. We recorded the changes in intraocular pressure (IOP) and in the need of anti-glaucoma medications before and after surgical procedures. Results : There was a statistically significant decrease in IOP at postoperative day 7 in both groups ( p < 0.001), which remained until the end of the 24-month follow-up. At month 24, the two groups did not differ significantly in terms of IOP (14.3 ± 1.4 vs. 13.1 ± 1.2 for Group I and Group II, respectively; p = 0.447). In addition, there was a statistically significant decrease in the number of anti-glaucoma medications needed at postoperative day 7 in both groups ( p < 0.001 for both groups compared to baseline). At month 24, patients in both groups needed about one additional anti-glaucoma medication to control their IOP. Of note, during the first month after surgery, 20% of patients in Group II needed 0.1 mL 5-FU injections to the bleb, although antimetabolites were not used in the primary surgery. Conclusions : Both surgical interventions, namely phacoemulsification cataract surgery alone and phacoemulsification/trabeculectomy, were found to be effective in the management of POAG with coexistent cataract, presenting a significant decrease in IOP and in the need of anti-glaucoma medications postoperatively at a long-term follow-up period of 24 months.

Background: Delays in treatment of aSAH appear to be common but the causes are not well understood. We explored facilitators and barriers to timely treatment of aSAH., Methods: We used a multiple case study with cases of aSAH surviving> 1 day identified prospectively. We conducted semi-structured interviews with the patient, their next-of-kin and health professionals involved in the case. Within-case analysis identified barriers and facilitators in 4 phases (pre-hospital, presentation, transfer, in-hospital) followed by thematic analysis across cases using a case-study matrix., Results: Twenty-seven cases with 90 interviewees yielded five themes related to facilitators or barriers of timely treatment. "Early recognition" led to urgent response. "Accessibility to health care" depended on patient's location, transport, and environmental conditions. Good "Coordination" between and within health services was a key facilitator. "Complexity" of patient's condition affected time to treatment in multiple time periods. "Availability of resources" was identified most frequently during the diagnostic and treatment phases as both barrier and facilitator., Conclusions: The identified themes may be modifiable at the patient/health professional level and health system level and may improve timely treatment of aSAH through targeted interventions, subsequently contributing to improve morbidity and mortality of patients with aSAH., (Copyright © 2022 College of Emergency Nursing Australasia. All rights reserved.)

Introduction: To review the existing literature about the optical coherence tomography angiography (OCTA) findings regarding peripapillary and macular vessel density (VD) in patients with pseudoexfoliative glaucoma (PXG)., Methods: A comprehensive search of the PubMed database was conducted to include articles up to November 1, 2021, using an appropriate search algorithm. The retrieved articles were assessed for eligibility and filtered manually to exclude duplicates, while articles and book chapters cited in the reference lists of the eligible articles obtained by this method were reviewed so as not to miss any relevant studies., Results: There is consistency among the studies published so far that a significant decrease in peripapillary VD exists in eyes with PXG compared to controls, and macular VD has also been reported to be significantly lower in PXG eyes than controls. However, the existing literature remains controversial regarding OCTA findings in eyes with PXG compared to those with primary open-angle glaucoma (POAG). Several studies have found that peripapillary VD and macular VD were significantly lower in PXG than POAG, while other studies reported no significant difference., Conclusions: Eyes with PXG were found to present decreased peripapillary and macular VD compared to control eyes, suggesting that a vascular component, including optic nerve hypoperfusion, may be implicated in the pathogenesis of PXG., (© 2022. The Author(s).)

Background: The purpose of this study is the development and validation of a novel and robust genotyping method for a new lysyl oxidase-like 1 ( LOXL1 ) intronic polymorphism (rs11638944, C > G) and the investigation of its potential association with pseudoexfoliation syndrome (PXS) and pseudoexfoliation glaucoma (PXG) in a Greek population., Material and Methods: 242 DNA samples from 49 PXS, 64 PXG, 50 primary open-angle glaucoma (POAG) patients and 79 healthy age-matched controls were analyzed. Novel methodologies were developed and optimized, in order to genotype the intronic LOXL1 polymorphism: a) a real-time qPCR and melting curve analysis in the Light Cycler platform for rapid and cost-effective analysis and, b) a conventional PCR-RFLP method for analysis of a small number of samples. In selected samples, validity was checked with the reference DNA Sequencing method., Results: The real-time qPCR methodology was reliable, demonstrating good efficiency, reproducibility, accuracy in genotyping (100% concordance with the PCR-RFLP method and DNA Sequencing), with good allele discrimination (Tm = 53.26°C for C allele, Tm = 61.83°C for G allele, ΔTm = 8.57°C). The results were characterized by Hardy-Weinberg equilibrium in all groups. An increase from 18% in healthy controls to 61% in PXS patients was detected for the G/G homozygote thus, the C allele is protective for PXS with OR = 0.22 (95%CI: 0.11-0.42, p < .0001). Moreover, an increase from 18% in healthy controls to 70% in PXG patients was detected for the G/G homozygote thus, the C allele is protective for PXG with OR = 0.13 (95%CI: 0.06-0.25, p < .0001)., Conclusions: A statistically significant association was verified for the intronic LOXL1 polymorphism rs11638944 and PXS/PXG in a Greek population.

Purpose: To review the evidence on the usefulness of the multifocal visual evoked potential (mfVEP) test in patients with optic neuritis (ON) and/or multiple sclerosis (MS)., Methods: We critically review key published evidence on the use of mfVEP in ON/MS patients and its association with other functional and structural tests., Results: Multifocal VEP tests are useful in detecting abnormality in patients with ON/MS and monitor the progression of lesions (remyelination, atrophy). In addition, mfVEP has good correlation with conventional visual evoked potential (VEP), standard automated perimetry, optical coherence tomography and magnetic resonance imaging. In patients with ON, mfVEP might be useful in predicting the risk of conversion to MS.

Purpose: To investigate the possible association of the matrix metalloproteinase 2 (MMP2)-1306C/T polymorphism with the risk of ischemic retinal vein occlusion (iRVO)., Methods: A total of 69 patients with RVO were enrolled in this study (43 with non-iRVO and 26 with iRVO). All subjects were screened for hypertension, diabetes mellitus, hyperlipidemia, history of stroke, anticoagulant medication, smoking status and glaucoma. The genotyping of MMP2-1306C/T polymorphism was performed using PCR-RFLP-based methods., Results: MMP2-1306C/T T allele carriers (CT+TT) were statistically significant associated with a higher risk of iRVO compared to CC genotype in the overall RVO group (odds ratio = 3.91, p = 0.015, 95% confidence interval:1.30-11.79). Analysis, following stratification by age revealed that T allele carriers had a statistically significant increased risk of iRVO compared to C allele carriers only in RVO patients <75 years old., Conclusion: Our results demonstrated that MMP2-1306C/T polymorphism is a likely predisposing factor for iRVO in patients <75 years old. This is the first study attempting association of a gene polymorphism with the prevalence of iRVO., (Copyright © 2020 IMSS. Published by Elsevier Inc. All rights reserved.)

Purpose: To compare prospectively intravitreal ranibizumab treatment and pars plana vitrectomy (PPV) in patients with recurrent vitreous haemorrhage (VH) due to proliferative diabetic retinopathy (PDR), who were previously treated with PPV., Methods: Participants in this prospective study were 37 patients (37 eyes) with PDR, previously treated with PPV. All patients presented recurrent VH and were treated with either ranibizumab (n = 18) or PPV (n = 19). All participants were examined at week 2 post-treatment and every month thereafter for 1 year. Main outcomes were the need of PPV, the rate of recurrence of VH and the change in visual acuity by the end of the 12-month follow-up., Results: At month 12, there was statistically significant improvement in visual acuity in both groups compared to baseline, but the two groups did not differ regarding the change in visual acuity. In ranibizumab group, two patients presented recurrent VH during the follow-up and one patient needed PPV to clear the VH by month 12. In PPV group, two patients had mild recurrent VH, which cleared itself. No statistically significant difference was noticed regarding the rate of recurrent VH and the need of PPV between the two groups., Conclusion: Intravitreal ranibizumab seems to be a safe and effective treatment alternative in patients with recurrent VH secondary to PDR, who had been previously treated with PPV.

Purpose: To investigate possible associations of single-nucleotide polymorphisms (SNPs) from five genes with branch retinal vein occlusion (BRVO) and central retinal vein occlusion (CRVO)., Methods: A total of 69 patients with retinal vein occlusion-RVO (24 with BRVO and 45 with CRVO), and 82 controls, were enrolled in this study. All subjects were screened for hypertension, diabetes mellitus, hyperlipidemia, glaucoma, anticoagulant medication, smoking status and history of stroke. The genotyping of AGTR1-A1166C, adiponectin + 276 G/T, MMP2-1306C/T, Gpla/lla-C807T/G873A and VKORC1-G1639A polymorphisms was performed using restriction fragment length polymorphism or allele-specific polymerase chain reaction., Results: The percentage of the AGTR1-A1166C C allele carriers and Gpla/lla-C807T/G873A T/A carriers was significantly higher in the CRVO patients than in the controls (P = 0.00001 and P = 0.0004, respectively). At the multiple logistic regression analysis, the AGTR1-A1166C C allele carrier status and the Gpla/lla-C807T/G873A T/A allele carrier status were found to be associated with an increased risk of CRVO. Moreover, adiponectin + 276 G/T T allele carriers had a significantly increased risk of RVO in subjects ≥ 75 years old. There was no significant difference between the BRVO patients and controls concerning the genotype or the allele frequency distributions of these SNPs. The genotype distributions or allelic frequencies of the other evaluated polymorphisms did not significantly differ between the patients with RVO and the control subjects., Conclusions: AGTR1 A1166C and Gpla/lla C807T/G873A polymorphisms are likely to be risk factors for CRVO. Adiponectin + 276 G/T SNP is likely to predispose to RVO in older subjects.

Background/aim: Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal endothelium. The purpose of this study was to develop a novel, accurate and high-throughput real-time polymerase chain reaction (PCR) method and melting-curve analysis in order to genotype the rs613872 polymorphism in the transcription factor 4 (TCF4) gene and to implement it on a well-ascertained sample of 22 Greek FECD patients and 58 healthy individuals, age- and sex-matched., Patients and Methods: DNA was extracted from blood samples, which were screened with the DNA sequencing method in order to detect the g.31753T>G/p.L450W (rs8035192) and g.31767C>A/p.Q455K (rs8035191) mutations in a COL8A2 genomic region., Results: TCF4 risk G allele frequency increased to 48% in FECD patients compared to 17% in healthy-subjects [OR=4.82 (95% CI=1.98-11.73)]. No p.L450W and p.Q455K COL8A2 gene mutations were detected., Conclusion: We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population., (Copyright© 2019, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

Background/aim: Glaucoma is a chronic and progressive optic neuropathy which leads to deterioration of visual function. It is estimated to be the second leading cause of severe vision loss and blindness worldwide. Failure of anti-glaucoma medication to sufficiently reduce intraocular pressure (IOP) and poor compliance with medication are indications for glaucoma surgery, for example using glaucoma drainage devices. Our aim was to compare the surgical outcomes following the implantation of Ahmed FP7 and Baerveldt 350 drainage devices., Patients and Methods: Five hundred and fifty-two patients with primary or secondary glaucoma were enrolled in the study. All patients had a history of failed trabeculectomy or other intraocular surgery, and IOP ≥18 mm Hg. The implantation of Ahmed (266 patients) or Baerveldt (286 patients) devices was randomly performed in the patients, who were subsequently examined for a period of 5 years. Follow-up visits were scheduled 1 day; 1 week; 1, 3 and 6 months; and 1, 1.5, 2, 3, 4 and 5 years postoperatively., Results: Significant reduction of IOP was achieved in both groups. Ahmed valve (28.3±9.3, 13.4±6.9, 14.2±6 and 12.7±4.5 mmHg at baseline, 1, 3, and 5 years postoperatively, respectively) resulted in significantly greater IOP reduction compared to Baerveldt implant (29.6±10.1, 15.4±5.5, 14.5±5.5 and 14.7±4.4 mmHg at baseline, 1, 3, and 5 years postoperatively, respectively). A significantly lower number of medications was required in the Ahmed group in comparison to the Baerveldt one (Ahmed group: 1.5±1.4, 1.4±1.5 and 1.8±1.5; Baerveldt group: 1.9±1.3, 1.9±1.3 and 2.2±1.4, respectively). The incidence of treatment failure and the rate of glaucoma reoperation were significantly higher in the Baerveldt group (40%) compared to the Ahmed group (17%)., Conclusion: Ahmed drainage implantation seemed to outclass that using the Baerveldt device in our study, in terms of efficacy and success rate., (Copyright© 2019, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

Purpose: To assess the psychological status of keratoconus sufferers and to determine the relationship between depression and visual impairment in this group of patients., Methods: Fifty-six patients with keratoconus and forty-seven age- and gender-matched healthy control subjects were retroprospectively analyzed. Every participant underwent a complete ophthalmological examination. Keratoconus diagnosis was confirmed with corneal topography and tomography. Zung Depression Inventory Questionnaire and Patient Health Questionnaire-9 (PHQ-9) were completed by everyone., Results: Visual acuity (logMAR 0.53 ±0.30 versus 0.11 ± 0.16), PHQ-9 score (10.20 ± 4.00 versus 5.40 ± 5.01), and Zung score (46.52 ± 8.70 versus 38.53 ± 8.41) showed a statistically significant difference between keratoconus patients and healthy controls ( p < 0.001 for all). Worse visual acuity was strongly correlated with older individuals (rho = 0.339, p =0.011) and higher PHQ-9 (rho = 0.765, p < 0.001) and Zung score (rho = 0.672, p < 0.001)., Conclusion: Depressive disorders appear to be directly associated with keratoconus, both in frequency and intensity. Worse visual acuity and older age could be identified as predictive factors for their emotional status. Moreover, the disease itself could be recognized as an independent risk factor for depression development, underlying the need for close monitoring and supportive management. To the best of our knowledge, our study is the first in the literature to elaborate the association between keratoconus and depression, by assessing two different questionnaires simultaneously.

Purpose: To assess macro- and microstructural brain changes in patients with pseudoexfoliation syndrome (PXS)., Materials and Methods: Comprehensive ophthalmic examination and brain MRI were conducted on 20 patients with PXS without glaucoma (aged 62.75 ± 0.4 years) and 20 controls (aged 62 ± 0.6 years). White matter (WM) integrity was evaluated on FLAIR and single-shot multisection SE-EPI diffusion tensor imaging (DTI) sequences. The presence and the number of white matter hyperintensities (WMHIs) on FLAIR images was compared between all patients and control subjects. Microstructural WM changes on DTI was evaluated using Tract-based spatial statistics (TBSS). DTI metrics of the optic tracts were assessed by the region-of-interest (ROI) method., Results: A significantly higher number of WMHIs was found in the patients with PXS than in the control subjects (P ≤ 0.002). On DTI the patients showed bilateral increase in the mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) values in the anterior thalamic radiation, the inferior fronto-occipital fasciculus, the superior longitudinal fasciculus, the inferior longitudinal fasciculus and the forceps minor. TBSS revealed no significant difference in fractional anisotropy (FA) values, but ROIs analysis of the optic tracts revealed decreased FA values in the patients., Conclusion: MRI in patients with PXS detects abnormalities in the brain and the optic tracts at a subclinical stage. Early detection of microstructural changes could be useful to guide appropriate treatment to impede the disease process., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background: Diabetic retinopathy is a major cause of visual impairment and blindness among working-age people worldwide. The aim of our study was to investigate the effects of a carotenoid supplementation on retinal thickness and macular function of patients with diabetes using optical coherence tomography (OCT) and multifocal electroretinography (mfERG)., Methods: A retrospective study of one hundred and twenty eyes of sixty patients age between 40 and 60 years with non-insulin dependent type 2 diabetes mellitus without diabetic retinopathy who underwent OCT and mfERG and took vitamin supplements for a period of two years. Patients received a carotenoid supplement containing lutein (10 mg), zeaxanthin (2 mg) and meso-zeaxanthin (10 mg) once a day for two years. The thickness of the fovea was evaluated using OCT and the macular function was tested by mfERG., Results: OCT showed an increase in the central foveal thickness and mfERG revealed increased retinal response density within the central 13° surrounding the fovea (rings 1 to 3) at two years after the onset of carotenoids supplement intake., Conclusion: The use of carotenoid supplements may be of benefit for improving visual function of type 2 diabetes patients. However, further study is needed to assess the treatment's long-term efficacy.

Background: Age-related macular degeneration (AMD) is a multifactorial degenerative ocular disease that leads to loss of central vision. Functional gene polymorphisms have already been associated with the disease (for example, ARMS2 A69S, rs10490924)., Aim: The goal of our study was to verify the correlation of the aforementioned ARMS2 variation with the disease, to examine, for the first time, the role of the CD14 C260T variation (rs2569190), and to investigate the association of two TLR4 polymorphisms (Asp299Gly or rs4986790 and Thr399Ile or rs4986791) in a Greek population with the wet form of AMD., Patients and Methods: Genomic DNAs were isolated from blood samples of 103 healthy controls and 120 Greek patients with wet AMD who were age- and sex-matched, and all of whom were clinically evaluated. For the genotyping of all selected polymorphisms, polymerase chain reaction-restriction fragment length polymorphism analysis was performed., Results and Conclusions: This study confirmed the association between the ARMS2 variation and AMD, detecting the T risk allele in a significantly higher frequency in the patient group, compared with the control subjects (45% vs 29.13%, P <0.001, odds ratio [OR] 1.99, confidence interval 1.34-2.95). For the CD14 polymorphism, no statistically significant correlation was observed. As for the TLR4 polymorphisms, the percentage of heterozygotes increased from 2.9% to 11.7% in the patient population for Asp299Gly and from 1.9% to 10% for the Thr399Ile polymorphism (ORs 4.40 [ P =0.01] and 5.61 [ P =0.0088], respectively). Although our ARMS2 and CD14 results provided definite conclusions, the role of innate immunity TLR4 gene awaits further investigation in larger AMD populations with more clinical data collected on past microbial infections., Competing Interests: Disclosure The authors report no conflicts of interest in this work.

Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve. Mutations of novel genes modifying mainly the balance between mitochondrial fusion and fission have been shown to lead to overlapping clinical phenotypes ranging from isolated optic atrophy to severe, sometimes lethal multisystem disorders, and are reviewed herein. Given the particular vulnerability of retinal ganglion cells to mitochondrial dysfunction, the accessibility of the eye as a part of the central nervous system and improvements in technical imaging concerning assessment of the retinal nerve fiber layer, optic nerve evaluation becomes critical - even in asymptomatic patients - for correct diagnosis, understanding and early treatment of these complex and enigmatic clinical entities., (Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

BACKGROUND Ocular tuberculosis (TB) is a clinical entity that presents with a wide range of clinical manifestations. It is regarded as an extremely challenging condition from the point of view of diagnostic approach and calls for early diagnosis and prompt treatment, as it can potentially lead to blindness. CASE REPORT This is a case report of a 32-year-old male from southern India who has been living and working in Greece over the last 10 years and presented with 2-week history of pain and progressive visual impairment of his left eye. He underwent a thorough clinical ophthalmological examination and imaging of the fundus, and the findings were consistent with uveitis. However, the manifestations of the inflammation were complicated as they included features that could be attributed mainly to Vogt-Koyanagi-Harada (VKH) disease and tuberculous serpiginous-like uveitis. Therefore, a systemic evaluation, together with specific laboratory and paraclinical investigations, were carried out to define the etiology of the inflammation and develop an optimal therapeutic plan. Taking into account specific findings from the chest imaging, a positive purified protein derivative (PPD) skin test, and sputum cultures positive for Mycobacterium tuberculosis (MTB), we set a diagnosis of posterior sclero-uveitis and started our patient on anti-tuberculous treatment. CONCLUSIONS This case reveals an atypical manifestation of tuberculous sclero-uveitis imitating Vogt-Koyanagi-Harada disease together with a few characteristics of serpiginous-like tuberculous uveitis, emphasizing the fact that tuberculosis should always be included in the differential diagnosis of uveitis when there is no obvious underlying disease.

Background/aim: The ability of a tumor to grow requires a sufficient blood supply. Microvascular density is considered the standard for assessing the neovasculature. Tumor cell vasculogenic mimicry refers to the formation of tumor cell-lined vessels that contribute to tumor neovascularization. The aim of the present work was to study angiogenesis and vasculogenic mimicry in benign and malignant melanocytic tumors of the eye and the periocular region., Patients and Methods: Histological sections from 118 patients were studied. Eighty-eight of the patients had nevi while the remaining 30 had malignant melanomas. Microvascular density was assessed by using antibodies against the endothelial cell markers CD31 and CD34. Vascular-like channels between neoplastic cells, that were not lined by endothelial cells and thus were negative for CD31 and CD34, represented areas of vasculogenic mimicry., Results: Angiogenesis was more pronounced in melanomas compared to melanocytic nevi and was increased in melanomas with high mitotic index and/or epithelioid cell preponderance compared to melanomas with low mitotic index and/or spindle cell predominance. Vasculogenic mimicry was observed in many melanomas, while it was evident in the minority of benign nevi as well., Conclusion: The existence of vasculogenic mimicry in benign nevi might have prognostic implications., (Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

This study aimed to present precancerous and cancerous epithelial eyelid lesions, their histopathological features, and possible correlations with clinical parameters. The retrospective study included 147 formalin-fixed, paraffin-embedded samples. We studied precancerous and cancerous epithelial eyelid lesions. Preneoplastic tumors were represented by 12 actinic keratoses and 6 in situ squamous cell carcinomas (Bowen disease) and skin epithelial tumors by 119 basal and 10 squamous cell carcinomas. We recorded the clinicomorphological and histopathological features of the specimens and investigated possible correlations. In our study, the vast majority of pre-malignant and malignant tumors occurred in advanced age (mean age of occurrence: 70.18 years). The data analysis showed that inflammation in patients with basal cell carcinoma (BCC) positively correlated with advanced age (p < 0.01), tumor diameter (p < 0.05), and the appearance of ulceration (p < 0.001). A prevalence of female sex was noted in the BCC group. We also found that inflammation with or without the presence of ulceration was more commonly seen in carcinomatous lesions than in preneoplastic lesions (p < 0.05). Inflammation occurrence is present in high proportions in the tumors studied and correlates with some clinicopathological parameters such as the age of patients, the mean tumor diameter, and the presence of ulceration. The comparison between premalignant and malignant conditions showed that inflammation probability increases as we move toward the more aggressive tumor phenotypes.

Neurodegeneration characterizes pathologic conditions, ranging from Alzheimer's disease to glaucoma, with devastating social and economic effects. It is a complex process implicating a series of molecular and cellular events, such as oxidative stress, mitochondrial dysfunction, protein misfolding, excitotoxicity and inflammation. Natural compounds, because of their broad spectrum of pharmacological and biological activities, could be possible candidates for the management of such multifactorial morbidities. However, their therapeutic potential against neurodegenerative diseases has been hampered by their poor bioavailability and subsequent insufficient delivery to the brain. This article provides an overview of the molecular mechanisms through which natural compounds exert their neuroprotective effects, as well as the development of novel natural compound-loaded delivery systems that could improve their neuroavailability., (Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Objective . To assess whether acute stroke patients in rural hospitals receive less occupational therapy and physiotherapy than those in metropolitan hospitals. Design . Retrospective case-control study of health data in patients ≤10 days after stroke. Setting . Occupational therapy and physiotherapy services in four rural hospitals and one metropolitan hospital. Participants . Acute stroke patients admitted in one health district. Main Outcome Measures . Frequency and duration of face-to-face and indirect therapy sessions. Results . Rural hospitals admitted 363 patients and metropolitan hospital admitted 378 patients. Mean age was 73 years. Those in rural hospitals received more face-to-face ( p > 0.0014) and indirect ( p = 0.001) occupational therapy when compared to those in the metropolitan hospital. Face-to-face sessions lasted longer ( p = 0.001). Patients admitted to the metropolitan hospital received more face-to-face ( p > 0.000) and indirect ( p > 0.000) physiotherapy when compared to those admitted to rural hospitals. Face-to-face sessions were shorter ( p > 0.000). Almost all were seen within 24 hours of referral. Conclusions . Acute stroke patients in Australian rural hospital may receive more occupational therapy and less physiotherapy than those in metropolitan hospitals. The dose of therapy was lower than recommended, and the referral process may unnecessarily delay the time from admission to a patient's first therapy session., Competing Interests: The authors declare that they have no competing interests.

Background: Age-related macular degeneration (AMD) is a degenerative ocular disease, which may lead to loss of central vision. In Caucasian populations, a strong correlation has been established with polymorphism Y402H (rs1061170) in the complement factor H gene (CFH). The H131R polymorphism (rs1801274) in the FCGR2A gene has been associated with many inflammatory diseases, but has not been investigated in relation to AMD. The goal of our study was the development of a novel method for Y402H (g.43097C>T) genotyping, the confirmation of its association with AMD in the Greek population and the investigation of the H131R polymorphism in AMD., Methods: DNAs were extracted from blood samples of 120 patients with the severe wet form of AMD and 103 age- and sex-matched controls, all of whom were clinically evaluated. A real-time PCR and melting curve analysis method for Y402H genotyping was developed in the LightCycler platform, after in silico design of appropriate primers and probes. Genotyping for H131R was performed using a real-time PCR method previously described by our group., Results: The novel genotyping method for Y402H in the CFH gene is fast, reproducible (Efficiency=1.79, reproducibility CVCq=3.33%, Tm C allele 53.36 °C and T allele 61.91 °C, ΔTm=8.55) and accurate as results were confirmed with the gold standard DNA Sequencing method., Conclusions: The present study confirmed the association between CFH Y402H SNP and wet AMD in the Greek population (OR=1.77, p=0.002). FCGR2A H131R polymorphism was investigated for the first time in this present study for possible correlation with wet AMD and a statistically significant association was detected (OR=1.74, p=0.006), that awaits further confirmation in a larger set of samples.

Objective: This study was conducted to evaluate the macular status of patients treated with hydroxychloroquine before and after cessation of treatment., Methods: Forty-two patients with systemic lupus erythematosus underwent ocular examination based on visual acuity evaluation, optical coherence tomography retinal thickness measurements, and multifocal electroretinography (mfERG) records at first visit. The tests were repeated 6 months after treatment withdrawal and compared to the findings at their first visit., Results: Mean visual acuity (measured in log minimum angle of resolution) of both eyes was statistically increased after hydroxychloroquine discontinuation (difference in means: 0.06 [P<0.0001] and 0.01 [P=0.003] for the right and left eyes, respectively). Retinal response amplitudes of central and peripheral areas were significantly improved for both eyes. The following values were observed for central responses: the difference in means was -19.9 (P<0.0001) and -13.6 (P<0.0001) for the right eye and the left eye, respectively; for peripheral responses, difference in means was -10.3 (P<0.0001) and -9.5 (P<0.0001) for right eye and left eye, respectively, after the 6-month examination. There were no statistically significant differences in the retinal thickness of patients after cessation of treatment. The visual acuity of the patients was correlated to central and peripheral mfERG responses (r=-0.53 [P<0.0001] and r=-0.53 [P<0.0001], for the right eye and the left eye, respectively)., Conclusion: The visual acuity of patients receiving hydroxychloroquine improves along with the amplitudes of the mfERG responses 6 months after discontinuation of the drug, but no difference in retinal thickness is identified.

Tumor cell vasculogenic mimicry refers to the formation of tumor cell-lined vessels that contribute to tumor neovascularization and nutrient and oxygen supply. These tumor cells express many endothelial and stem cell markers, resulting in them having a unique phenotype. This phenomenon is observed in a variety of neoplasms, such as glioblastomas and sarcomas, as well as breast, ovarian, liver and lung carcinomas. It is also evident in melanocytic lesions, regardless of their benign or malignant nature. The biochemical and molecular events that regulate vasculogenic mimicry provide opportunities for development of novel forms of tumor-targeted treatments. Furthermore, the presence of this process in a tumor might have prognostic implications., (Copyright © 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Oxidative stress refers to cellular or molecular damage caused by reactive oxygen species, which especially occurs in age-related conditions as a result of an imbalance between the production of reactive oxygen species and the antioxidant defense response. Dry age-related macular degeneration (AMD) and exfoliation syndrome (XFS) are two common and complex age-related conditions that can cause irreversible vision loss. Two subtypes of AMD, which is the leading cause of blindness in the Western world, exist: the most prevalent dry type and the most severe wet type. Early dry AMD is characterized by formation of drusen, which are sub-retinal deposits, in the macular area and may progress to geographic atrophy with more dramatic manifestation. XFS is a systemic disorder of the extracellular matrix characterized by the accumulation of elastic fibrils that leads, in most cases, to glaucoma development with progressive and irreversible vision loss. Due to the aging population, the prevalence of these already-widespread conditions is increasing and is resulting in significant economic and psychological costs for individuals and for society. The exact composition of the abnormal drusen and XFS material as well as the mechanisms responsible for their production and accumulation still remain elusive, and consequently treatment for both diseases is lacking. However, recent epidemiologic, genetic and molecular studies support a major role for oxidative stress in both dry AMD and XFS development. Understanding the early molecular events in their pathogenesis and the exact role of oxidative stress may provide novel opportunities for therapeutic intervention for the prevention of progression to advanced disease.

A potential association between Alzheimer's disease (AD) and chronic glaucoma has been suggested but results of epidemiological studies have been inconsistent. Therefore, we performed a systematic review and critical appraisal of this literature. We searched systematically in PubMed from December 1964 to September 2013 and identified 239 articles potentially relevant for abstract and full-text review. Statistical heterogeneity (variability) across studies was evaluated using the Cochran Q test and the I (2) statistic, and the Newcastle-Ottawa score was used to assess study quality. Ten studies were finally selected. Compared to non-demented participants, patients with AD had a statistically significant decreased risk of glaucoma but the results were very heterogeneous, and thus summary estimates were not reported (I (2), 89%; P heterogeneity, <0.001). The study results ranged from large positive relative risks identified in small and poorly-conducted studies to weak inverse associations or null estimates observed in some cohort and record-linkage studies, but the summary estimates were essentially driven by a large retrospective cohort using medical claims that may be afflicted by underdiagnosis bias. There was also evidence for substantial publication bias (Egger's P≤0.01). The association of AD and glaucoma is heterogeneous and most studies are small and inadequately designed. Large prospective studies with long follow-ups are warranted to clarify this association.

Background/aim: Tumor angiogenesis has been the subject of intensive research in recent years in many tumor types. Studies involving epithelial skin tumors are few to date. We evaluated tumor angiogenesis and lymphangiogenesis in cancerous and pre-cancerous lesions of the eyelids using immunohistochemical techniques., Materials and Methods: The study included 147 formalin-fixed, paraffin-embedded samples. We studied cancerous lesions of the eyelid skin such as basal cell carcinoma, squamous and basosquamous cell carcinoma and pre-cancerous lesions such as actinic keratosis and Bowen's disease. We applied immunohistochemical staining using antibodies to investigate angiogenic and lymphangiogenic molecular factors, such as vascular endothelial growth factor (VEGF) and its receptors. We recorded the microvascular density of these tumors by using the marker CD-105, a specific antibody against endoglin protein., Results: Data analysis showed that the molecular factors that control angiogenesis are expressed in high proportions in the tumors studied and that this expression is positively-correlated with tumor microvascular density. Furthermore, correlations emerged with the mean diameter of these tumors. We also found differences in microvascular density between pre-cancerous and cancerous eyelid lesions., Conclusion: Activation of the angiogenic molecular factors results in intratumoral and peritumoral microvascularity formation at initial tumor growth. As the tumor attains a certain size and microvascular network, some VEGF receptors appear to decrease. Tumor angiogenesis appears to be active in cutaneous malignancies of the eyelids; therefore our hypothesis of a potential anti-angiogenic therapy for the studied tumors needs investigation in future studies., (Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array-comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.

Purpose: In the Greek population of Epirus, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occur at a high prevalence. In this study, we validate a novel lysyl oxidase-like 1 (LOXL1) genotyping method, investigate the previously reported association of LOXL1 with XFS/XFG, and evaluate apolipoprotein E (APOE) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms as genetic risk factors for both conditions in our population., Methods: Blood samples were collected from 82 patients with XFG, 69 patients with XFS, 52 patients with primary open-angle glaucoma (POAG), and 107 controls. APOE and MTHFR 677C>T genotyping was performed from extracted genomic DNA with established methods. A novel methodology of real-time PCR and melting curve analysis was developed and validated to accurately genotype the LOXL1 G153D and R141L polymorphisms by using two different fluorescent channels of the LightCycler instrument (Roche) examining each SNP separately., Results: No significant differences were observed for the APOE and MTHFR polymorphisms between the patients with XFS, the patients with XFG, and the control subjects. The APOE ε2 allele appears to be associated with elevated risk of POAG in our population. Our novel LOXL1 genotyping method was easy to perform, fast, and accurate. A statistically significant association was found for the LOXL1 gene with XFS/XFG in this Greek population. The association of XFS and XFG with G153D appeared to be less powerful in this population (XFS: odds ratio [OR]=2.162, p=0.039, XFG: OR=2.794, p=0.002) compared to other populations, and for R141L, the association was proven only with XFG (OR=3.592, p<0.001). Neither of the two LOXL1 SNPs was significantly associated with POAG., Conclusions: We confirmed the association between LOXL1 and XFS/XFG, but the APOE and MTHFR polymorphisms are not significant risk factors for the development of XFS/XFG in our population of patients from Epirus (Greece).

Glaucoma, a leading cause of blindness worldwide, is currently defined as a disturbance of the structural or functional integrity of the optic nerve that causes characteristic atrophic changes in the optic nerve, which may lead to specific visual field defects over time. This disturbance usually can be arrested or diminished by adequate lowering of intraocular pressure (IOP). Glaucoma can be divided roughly into two main categories, ‘ open angle ’ and ‘ closed angle ’ glaucoma.Open angle, chronic glaucoma tends to progress at a slower rate and patients may not notice loss of vision until the disease has progressed significantly. Primary open angle glaucoma(POAG) is described distinctly as a multifactorial optic neuropathy that is chronic and progressive with a characteristic acquired loss of optic nerve fibers. Such loss develops in the presence of open anterior chamber angles, characteristic visual field abnormalities, and IOP that is too high for the healthy eye. It manifests by cupping and atrophy of the optic disc, in the absence of other known causes of glaucomatous disease. Several biological markers have been implicated with the disease. The purpose of this study was to summarize the current knowledge regarding the non-genetic molecular markers which have been predicted to have an association with POAG but have not yet been validated.

Background and Purpose: Neuropathologic studies in experimental and human glaucoma have demonstrated degenerative changes in the optic pathway. The purpose of this study was to assess the optic pathway in POAG by using VBM and DTI., Materials and Methods: Eighteen patients 57.05 ± 11.38 years of age with POAG of 8.30 ± 5.14 years' duration and 18 control subjects underwent a complete ophthalmologic examination, including quantification of the RNFLT by using Stratus OCT 3, and brain imaging. The imaging protocol consisted of a T1-weighted high-resolution 3D spoiled gradient-echo sequence and a multisection spin-echo- planar diffusion-weighted sequence. Data preprocessing and analysis were performed by using Matlab 7.0 and SPM 5., Results: Left temporal and right nasal RNFLTs were significantly thinner than right temporal and left nasal RNFLTs. In patients, VBM revealed a significant reduction in the left visual cortex volume, the left lateral geniculate nucleus, and the intracranial part of the ONs and the chiasma. In addition, a significant decrease of FA was observed in the inferior fronto-occipital fasciculus, the longitudinal and inferior frontal fasciculi, the putamen, the caudate nucleus, the anterior and posterior thalamic radiations, and the anterior and posterior limbs of the internal capsule of the left hemisphere (P < .05)., Conclusions: Neurodegenerative changes of the optic pathway and several brain areas associated with the visual system can be observed by using VBM and DTI in patients with POAG, suggesting that glaucoma is a complex neurologic disease.

Background and Purpose: Several previous studies have employed optical coherence tomography (OCT) of the optic disc and 'white-on-white' automated perimetry to evaluate optic neuritis (ON) associated with multiple sclerosis (MS). This study employed OCT, white-on-white automated perimetry as well as 'blue-on-yellow' automated perimetry to evaluate MS patients with or without episodes of ON., Methods: The MS group consisted of 56 patients with MS (27 patients with no history of ON in both eyes and 29 patients with at least one ON attack in one or both eyes), whereas the control group consisted of 56 age- and sex-matched healthy subjects. All patients underwent a complete neurological and ophthalmological examination. Peri-papillary retinal nerve fibre layer thickness (RNFLT) was evaluated using OCT. The mean defect and pattern standard deviation for both white-on-white and blue-on-yellow perimetry were also recorded., Results: RNFLT and perimetric scores were significantly lower in MS group without a history of ON and in the unaffected eyes of MS group with unilateral ON, compared with controls. MS group with more than one ON episodes had significantly compromised blue-on-yellow perimetric indices, compared with patients with one ON episode, whereas respective differences for white-on-white perimetry were not statistically significant., Conclusions: The significantly lower RNFLT and perimetric scores in MS group patients without ON, compared with control group, may possibly be attributed to sub-clinical episodes of ON or to retrograde degeneration of nerve cells from sub-clinical post-chiasmal lesions. Blue-on-yellow perimetry may be advantageous over white-on-white perimetry in evaluating MS-associated functional defects., (© 2010 The Author(s). European Journal of Neurology © 2010 EFNS.)

Background: Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far., Results: Here we report a 6-year-old boy presenting growth retardation, dysmorphic features and who exhibited learning difficulties. Fluorescence in situ hybridization (FISH) analysis of the proband revealed a deletion of DiGeorge Syndrome critical region (TUPLE). Array-CGH analysis revealed an interstitial duplication of 12 Mb in size in the area 15q11.2-q13.3, combined with a 3.2 Mb deletion at region 22q11.1-q11.21. FISH analysis in the mother showed a cryptic balanced translocation between chromosome 15 and chromosome 22 (not evident by classic karyotyping). DISCUSION: The clinical manifestations could be related to both syndromes and the importance of array-CGH analysis in cases of unexplained developmental delay is emphasized. The present case further demonstrates how molecular cytogenetic techniques applied in the parents were necessary for the genetic counseling of the family.

Purpose: In Australia, stroke is the leading cause of adult disability. For most stroke survivors, the recovery process is challenging, and in the first few weeks their recovery is supported with stroke rehabilitation services. Stroke clinicians are expected to apply an evidence-based approach to stroke rehabilitation and, in turn, use standardised and validated assessments to monitor stroke recovery. In 2008, the National Stroke Foundation conducted the first national audit of Australia's post acute stroke rehabilitation services and findings identified a vast array of assessments being used by clinicians. This study undertook a sub-analysis of the audit's assessment tools data with the aim of making clinically relevant recommendations concerning the validity of the most frequently selected assessments., Method: Data reduction ranked the most frequently selected assessments across a series of sub-categories. A serial systematic review of relevant literature using Medline and the Cumulative Index to Nursing and Allied Health Literature identified post-stroke validity ranking., Results: The study found that standardised and non-standardised assessments are currently in use in stroke rehabilitation. It recommends further research in the sub-categories of strength, visual acuity, dysphagia, continence and nutrition and found strengths in the sub-categories of balance and mobility, upper limb function and mood., Conclusions: This is the first study to map national usage of post-stroke assessments and review that usage against the evidence. It generates new knowledge concerning what assessments we currently use post stroke, what we should be using and makes some practical post stroke clinical recommendations.

Background: The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for the last decades. The implementation of Array Comparative Genomic Hybridization (array-CGH) has enabled the analysis of copy number variants (CNVs) with high resolution. Major cohort studies attribute 11% of patients with unexplained mental retardation to clinically significant CNVs. Here we report the use of array-CGH for the first time in a Greek cohort. A total of 82 children of Greek origin with mean age 4.9 years were analysed in the present study. Patients with visible cytogenetic abnormalities ascertained by standard karyotyping as well as those with subtelomeric abnormalities determined by Multiplex Ligation-dependent Probe Amplification (MLPA) or subtelomeric FISH had been excluded., Results: Fourteen CNVs were detected in the studied patients. In nine patients (11%) the chromosomal aberrations were inherited from one of the parents. One patients showed two duplications, a 550 kb duplication in 3p14.1 inherited from the father and a ~1.1 Mb duplication in (22)(q13.1q13.2) inherited from the mother. Although both parents were phenotypically normal, it cannot be excluded that the dual duplication is causative for the patient's clinical profile including dysmorphic features and severe developmental delay. Furthermore, three de novo clinically significant CNVs were detected (3.7%). There was a ~6 Mb triplication of 18q21.1 in a girl 5 years of age with moderate MR and mild dysmorphic features and a ~4.8 Mb duplication at (10)(q11.1q11.21) in a 2 years old boy with severe MR, multiple congenital anomalies, severe central hypotonia, and ataxia. Finally, in a 3 year-old girl with microcephaly and severe hypotonia a deletion in (2)(q31.2q31.3) of about ~3.9 Mb was discovered. All CNVs were confirmed by Fluorescence in situ hybridization (FISH). For the remaining 9 patients the detected CNVs (inherited duplications or deletions of 80 kb to 800 kb in size) were probably not associated with the clinical findings., Conclusions: Genomic microarrays have within the recent years proven to be a highly useful tool in the investigation of unexplained MR. The cohorts reported so far agree on an around 11% diagnostic yield of clinically significant CNVs in patients with unexplained MR. Various publicly available databases have been created for the interpretation of identified CNVs and parents are analyzed in case a rare CNV is identified in the child. We have conducted a study of Greek patients with unexplained MR and confirmed the high diagnostic value of the previous studies. It is important that the technique becomes available also in less developed countries when the cost of consumables will be reduced.

Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the limitations in their identification, have presented a diagnostic problem. In order to determine the origin of sSMCs, we used a variety of fluorescence in situ hybridization (FISH) methods, including centromere-specific multicolor FISH, acrocentric specific multicolor FISH, subcentromere-specific multicolor FISH and multicolor FISH with whole chromosome paint probes. Moreover, uniparental disomy testing was in all cases attempted. From a total of 28,000 pre-natal samples from four diagnostic genetics laboratories in Greece, 23 (0.082%) supernumerary marker chromosomes were detected. The mean maternal age was 36.2 years (range 27-43) and the mean gestational age at which amniocentesis was performed was 18.5 weeks (range 16-23). Eighteen markers were de novo and 5 markers were inherited. Molecular cytogenetic methods were applied to determine the chromosomal origin and composition of the sSMC. In total, 17 markers were derived from acrocentric chromosomes (14, 15, 21 and 22) and 6 markers were non-acrocentric, derived from chromosomes 9, 16, 18, 20 and Y. Uniparental disomy was not detected in any of the cases studied. With regard to pregnancy outcome, 13 pregnancies resulted in normal healthy neonates, while 10 pregnancies were terminated due to ultrasound abnormalities. A total of 23 marker chromosomes from 28,000 pre-natal samples (0.082%) were identified. Molecular cytogenetic techniques provided valuable information on the chromosomal origin and composition of all the sSMCs. Especially in cases with normal ultrasound, the FISH results rendered genetic counseling possible in a category of cases previously considered a diagnostic problem. Abnormal outcome was observed in 10 cases (43,5%), 7 of which showed abnormal ultrasound findings. New technologies, such as array-comparative genomic hybridization, should be used in future genotype-phenotype correlation studies, although the high mosaicism rate poses a problem.

Purpose: To present the technique of a modified deep sclerectomy, which we will call "reversed" deep sclerectomy (RDS) and the results and our observations of its use in patients with open angle glaucoma (OAG) and with or without cataract extraction (phacoemulsification)., Materials and Methods: This prospective study included 132 eyes which underwent RDS: 37 eyes (group A) with uncontrolled OAG and 95 eyes (group B) with OAG and visually significant cataract. Mean pressure preoperatively for group A was 24.48 +/- 4.92 mmHg and for group B was 22.99 +/- 3.00. The mean number of antiglaucoma drugs received was 2.97 +/- 0.69 and 2.56 +/- 0.73 for groups A and B respectively. The RDS was performed where the deep scleral stroma is prepared in 2 parts, folded and inserted under the lateral sides of the sclerectomy, and the Schlemm's canal is opened prior to deep scleral stroma preparation. Cataract was extracted by phacoemulsification through the same scleral opening. The follow-up for group A was 22.23 +/- 10.18 months and for group B, 25.36 +/- 10.12 months., Results: Postoperative intraocular pressure (IOP)

Purpose: To determine whether the removal of the inner wall of Schlemm's canal (external trabeculectomy) improves the effectiveness of a modified method of deep sclerectomy (DS), which we will call "reversed" deep sclerectomy (RDS)., Materials and Method: We conducted a prospective study of two groups of patients. Group A included 22 eyes of 18 patients with open angle glaucoma (OAG) under maximum medical treatment, which underwent RDS - a modified method of performing DS - with the removal of the inner wall of Schlemm's canal (external trabeculectomy) and without using any implant. Group B included 20 eyes of 17 patients which had undergone RDS alone. Demographic and tonometric data of patients of Group A revealed no significant difference from data of patients in Group B. A mean follow up period for Group A was 22.8 months and for Group B was 23.4 months. The outcome of the operations was termed a total success when intraocular pressure (IOP) was <21 mmHg postoperatively, without additional treatment, relative success when IOP was <21 mmHg with additional treatment and a total failure when IOP >21 mmHg with medical treatment., Results: Total success was achieved in 18/22 eyes (81.8%) for Group A and in 8/20 eyes (40%) for Group B (P < 0.05). Relative success was achieved in 22/22 (100%) for Group A and in 17/20 eyes (85%) in Group B (P = NS). Total failure occurred in 0/22 eyes (0%) in Group A and in 3/20 (15%) eyes in Group B (P = NS). The mean postoperative IOP in Group A was 13.5 +/- 2.8 mmHg with a reduction of 12.4 +/- 4.6 mmHg (48.1%) and in Group B mean postoperative IOP was 18 +/- 4.3 mmHg with a reduction of 6.2 +/- 6.9 (25.6%) (P < 0.001). Mean drug reduction postoperatively was 3.2 +/- 0.9 drugs in Group A and 1.7 +/- 1.2 in Group B (P < 0.001)., Conclusion: In the follow up time during which the two groups were under study (12-36 months), the removal of the inner wall of Schlemm's canal while performing RDS proves an important factor in improving its effectiveness.

Background: Non-arteritic anterior ischemic optic neuropathy (N-AION) is caused by acute ischemic infarction of the optic nerve head, supplied by the posterior ciliary arteries. Thrombophilia is the tendency/predisposition to vascular thromboses of arteries and veins, and the existence of thrombophilic risk factors leads to blood hypercoagulability and potentially increased risk for thromboses., Objectives: To investigate whether there is an association between N-AION and a wide spectrum of thrombophilic risk factors., Patients and Methods: Seventy-seven consecutive cases of confirmed N-AION and 60 age- and sex-matched consecutive controls constituted the study group. Fibrinogen levels, deficiency of proteins C, S, ATIII, lupus anticoagulant, activated protein C resistance, factor V Leiden, factor V H1299R, factor II G20210A, MTHFR C677T, MTHFR A1298C, GPIIIa A1/A2, and ACE I/D polymorphisms were analysed., Results: Statistical analysis of the plasma proteins in our study demonstrated that the only significant difference was the one concerning protein S levels. In particular, the mean value for N-AION patients was 78.8% +/- 21.2, and for the control group the mean value was 88% +/- 21.2 (p = 0.013). Despite the above-mentioned result, there was not any statistical difference between the two subgroups regarding actual protein S deficiency, as 9/77 (11.7%) patients and 4/60 (6.7%) controls had protein S levels below 60% (p = 0.32). In our study sample, homozygosity for MTHFR C677T polymorphism in the study group as a whole, and the presence of at least one A2 allele of GPIIIa in the subgroup of male patients as compared to healthy male controls, proved to be the most significant thrombophilic risk factors, with odds ratios of 16.78 (95% C.I 0.96-294.42, p = 0.054) and 4.6 (95% C.I 1.52-13.88, p = 0.007) respectively., Conclusion: Screening for these polymorphisms would probably constitute a valuable procedure in N-AION patients, as they may have an important contribution to the pathogenesis of the disease.

Background: Mutations in the MYOC gene have been shown to explain 5% of unrelated primary open angle glaucoma (POAG) in different populations. In particular, the T377M MYOC mutation has arisen at least three separate times in history, in Great Britain, India, and Greece. The purpose of this study is to investigate the distribution of the mutation among different population groups in the northwestern region of Greece., Materials and Methods: We explored the distribution of the "Greek" T377M founder mutation in the Epirus region in Northwestern Greece, which could be its origin. Genotyping was performed in POAG cases and controls by PCR amplification of the MYOC gene, followed by digestion with restriction enzyme. Statistical analyses were performed by an exact test, the Kaplan-Meier method and the t-test., Results: In the isolated Chrysovitsa village in the Pindus Mountains, a large POAG family demonstrated the T377M mutation in 20 of 66 family members while no controls from the Epirus region (n = 124) carried this mutation (P < 0.001). Among other POAG cases from Epirus, 2 out of 14 familial cases and 1 out of 80 sporadic cases showed the mutation (P = 0.057). The probability of POAG diagnosis with advancing age among mutation carriers was 23% at age 40, and reached 100% at age 75. POAG patients with the T377M mutation were diagnosed at a mean age of 51 years (SD +/- 13.9), which is younger than the sporadic or familial POAG cases: 63.1 (SD +/- 11) and 66.8 (SD +/- 9.8) years, respectively., Conclusions: The T377M mutation was found in high proportion in members of the Chrysovitsa family (30.3%), in lower proportion in familial POAG cases (14.2%) and seems rare in sporadic POAG cases (1.2%), while no controls (0%) from the Epirus region carried the mutation. Historical and geographical data may explain the distribution of this mutation within Greece and worldwide.

Background: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancytopenia or thrombocytopenia may be indicative for JBS., Results: We report a 7.5 years old boy presenting with speech development delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result., Discussion: Our results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS.

Neuropathological studies in experimental and human glaucoma have shown degenerative changes in the optic pathway. The purpose of the study was to evaluate, with conventional MRI and magnetisation transfer imaging, the brain and the optic pathway of patients with primary open-angle glaucoma (POAG). 26 patients, aged 67.4+/-8.6 years, and 26 control subjects were studied. The presence of white matter hyperintensities (WMH) was evaluated on fluid-attenuated inversion recovery images of the brain. The area of the optic nerves was assessed on coronal short tau inversion recovery images. Magnetisation transfer ratio (MTR) was measured in the chiasm and in the grey and white matter (CGM and CWM) of the calcarine fissure. More WMH were observed in patients (total 261, mean 10.8, standard deviation 12.7) than in control subjects (total 127, mean 4.7, standard deviation 5.7; p<0.001). The area (mm(2)) of optic nerves (10.7+/-5.7) and the MTR (%) of the chiasm (53.7+/-8.4), the CWM (60.9+/-4.2) and the CGM (53.6+/-5.6) were all lower in patients than in control subjects (13.6+/-4.3, 62.1+/-6.2, 67.6+/-8.6 and 57.0+/-4.6, respectively; p<0.05). The area of optic nerves showed significant correlation with the MTR of the chiasm (R = 0.41), the MTR of the CGM (R = 0.33), the MTR of the CWM (R = 0.34) and the cup to disc ratio (R = -0.46). POAG leads to optic nerve atrophy and degeneration of the optic pathway. The finding of an increase in the number of WMH suggests that cerebrovascular disease may play a role in the pathogenesis of POAG.