A multi-trait open-angle glaucoma polygenic risk score stratifies risk of glaucoma diagnosis and severity in eyes with pseudoexfoliation.

Objective: Pseudoexfoliation syndrome (PEX) is a known risk factor for glaucoma, but its individual clinical course ranges from no glaucoma to total blindness. This study investigated whether polygenic risk scores (PRS) built from variants collectively associated with open-angle glaucoma, intraocular pressure (IOP) and vertical cup:disc ratio (VCDR) can stratify individuals with pseudoexfoliation for their risk of glaucoma development.

Design: Retrospective multicohort study of two glaucoma registries and one population-based cohort.

Topical brinzolamide-induced ciliary body effusion with secondary angle closure and myopic shift.

Here, we describe a rare case of drug-induced unilateral ciliary body effusion precipitated by topical brinzolamide, presenting acutely with pain, angle closure and myopic shift.Ciliary body effusion was suspected clinically and confirmed by ultrasound biomicroscopy. Brinzolamide was ceased, atropine instilled and the ciliary body effusion promptly resolved without need for further treatment.

The Clinical Anatomy of SARS-CoV-2 Variants of Concern in Central Greece During October 2020-July 2022.

The emergence of SARS-CoV-2 variants of concern (VOCs) during the COVID-19 pandemic necessitates investigation into their clinical differentiation and outcomes. This study aimed to examine these differences among VOCs, considering multiple related factors. An observational cohort study was conducted on patients diagnosed with SARS-CoV-2 infection via nasopharyngeal/oropharyngeal swab who visited the emergency department of a public Greek hospital between October 2020 and July 2022 during different VOC circulation in the region.

Preferences and perceptions of 617 migraine patients on acute and preventive migraine treatment attributes and clinical trial endpoints.

Background: To identify the preferences and perceptions of migraine patients for acute and preventive treatment options and to investigate which treatment outcomes are the most important.

Design And Methods: The authors performed a choice-format survey in a cohort of migraine patients from Greece and Cyprus. A self-administered questionnaire developed in collaboration with the Greek Society of Migraine Patients was used.

Molecular Analysis of Hot-Spot Regions of ACE2 and TMPRSS2 in SARS-CoV-2 "Invulnerable" Individuals.

Background Coronavirus disease 2019 (COVID-19) is characterized by a wide clinical variability, ranging from acute illness that may require hospitalization and intensive care unit management to mild and even asymptomatic disease. A more exciting phenomenon is the presence of individuals who came into close contact with COVID-19 patients without prophylaxis but were never infected by SARS-CoV-2, even as an asymptomatic disease. Aims We describe four such "invulnerable" individuals and explore if they carry genetic defects in hot-spot regions of and genes, which are responsible for virus entry into the host cells.

Physical Activity Is Associated With Macular Thickness: A Multi-Cohort Observational Study.

Purpose: To assess the association between physical activity and spectral-domain optical coherence tomography (SD-OCT)-measured rates of macular thinning in an adult population with primary open-angle glaucoma.

Methods: The correlation between accelerometer-measured physical activity and rates of macular ganglion cell-inner plexiform layer (GCIPL) thinning was measured in 735 eyes from 388 participants of the Progression Risk of Glaucoma: RElevant SNPs with Significant Association (PROGRESSA) study. The association between accelerometer-measured physical activity and cross-sectional SD-OCT macular thickness was then assessed in 8862 eyes from 6152 participants available for analysis in the UK Biobank who had SD-OCT, ophthalmic, comorbidity, and demographic data.

Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.

Importance: Irreversible vision loss from primary open-angle glaucoma (POAG) can be prevented through timely diagnosis and treatment, although definitive diagnosis can be difficult in early-stage disease. As a consequence, large numbers of individuals with suspected glaucoma require regular monitoring, even though many of these may never develop disease and other high-risk individuals with suspected glaucoma may have delayed or inadequate treatment. POAG is one of the most heritable common diseases, and this provides an opportunity to use genetic instruments in risk-stratified screening, diagnosis, and treatment of early glaucoma.

Radiological Features of Bilateral Sequential Leukaemic Optic Nerve Infiltration: A Case Report.

Leukaemic infiltration of the optic nerve is an oncologic emergency that can lead to a significant risk of irreversible vision loss and has an overall poor systemic prognosis. We present the case of a 77-year-old man in previous systemic remission from acute myeloid leukaemia (AML) who developed bilateral sequential leukaemic optic nerve involvement with eventual complete vision loss. A review of the clinical and radiological characteristics of optic nerve infiltration in AML is provided.

Machine-Learning-Assisted Analysis of TCR Profiling Data Unveils Cross-Reactivity between SARS-CoV-2 and a Wide Spectrum of Pathogens and Other Diseases.

During the last two years, the emergence of SARS-CoV-2 has led to millions of deaths worldwide, with a devastating socio-economic impact on a global scale. The scientific community's focus has recently shifted towards the association of the T cell immunological repertoire with COVID-19 progression and severity, by utilising T cell receptor sequencing (TCR-Seq) assays. The Multiplexed Identification of T cell Receptor Antigen (MIRA) dataset, which is a subset of the immunoACCESS study, provides thousands of TCRs that can specifically recognise SARS-CoV-2 epitopes.

Real world data on the prognostic significance of monocytopenia in myelodysplastic syndrome.

Monocytopenia is a common finding in patients with myelodysplastic syndrome (MDS), but although monocytes may exhibit prognostic significance in MDS due to their role in innate immunity, they have not been incorporated in any prognostic scoring system for MDS. In this study, we analyzed national registry data from 1719 adults with MDS. Monocytopenia was present in 29.

Immunogenicity of a third dose of the BNT162b2 COVID-19 vaccine in patients with CLL: effects on treatment selection.

Patients with chronic lymphocytic leukemia (CLL) show suboptimal responses to the vaccines against SARS-CoV-2; it has been shown though that a booster dose of the BNT162b2 vaccine may lead to a significant increase in the seroconversion rates of immunocompromised patients. We conducted a prospective, non-interventional study to evaluate the immunogenicity of a third dose of the BNT162b2 vaccine in adult patients with CLL. Sera were tested before the first, after the second, and before and after the third dose for anti-SARS-CoV-2 receptor binding domain (RBD) spike protein IgG (anti-RBD).

The E4 Allele Is Associated with Faster Rates of Neuroretinal Thinning in a Prospective Cohort Study of Suspect and Early Glaucoma.

Purpose: To investigate the association between the apolipoprotein E () E4 dementia-risk allele and prospective longitudinal retinal thinning in a cohort study of suspect and early manifest glaucoma.

Design: Retrospective analysis of prospective cohort data.

Participants: This study included all available eyes from participants recruited to the Progression Risk of Glaucoma: Relevant SNPs [single nucleotide polymorphisms] with Significant Association (PROGRESSA) study with genotyping data from which genotypes could be determined.

Genetic Risk of Cardiovascular Disease Is Associated with Macular Ganglion Cell-Inner Plexiform Layer Thinning in an Early Glaucoma Cohort.

Purpose: To evaluate the association between genetic risk for cardiovascular disease and retinal thinning in early glaucoma.

Design: Prospective, observational genetic association study.

Participants: Multicohort study combining a cohort of patients with suspect and early manifest primary open-angle glaucoma (POAG), a cohort of patients with perimetric POAG, and an external normative control cohort.

Association Between Body Mass Index and Primary Open Angle Glaucoma in Three Cohorts.

Purpose: To evaluate the relationship between body mass index (BMI) and glaucoma progression.

Design: Multicohort observational study.

Methods: This study combined a retrospective longitudinal analysis of suspect and early manifest primary open angle glaucoma cases from the Progression Risk of Glaucoma: RElevant SNPs with Significant Association (PROGRESSA) study with 2 replication cohorts from the UK Biobank and the Canadian Longitudinal Study of Ageing (CLSA).

Real-world effectiveness of vortioxetine in outpatients with major depressive disorder: functioning and dose effects.

Background: Functional recovery is an important treatment goal in major depressive disorder (MDD). This study assessed the real-world effectiveness of vortioxetine in patients with MDD, with particular focus on functioning; dose-response was also assessed.

Methods: This was a non-interventional, prospective, multicenter study conducted in Greece.

Residual cognitive and psychosocial functional impairment in outpatients in Greece who responded to conventional antidepressant monotherapy treatments for major depressive disorder (MDD).

Background: Patients with MDD may experience diverse residual symptoms after clinical response to antidepressant treatment. Among these symptoms, cognitive problems in executive functioning are prominent and make functional recovery largely an unmet need for MDD patients. In this study we assessed cognitive symptoms and functional impairment in patients with MDD responding to antidepressant treatment.

Safety and immunogenicity of the BNT162b2 mRNA Covid-19 vaccine in patients with chronic lymphocytic leukemia: a prospective study.

Introduction: Immunization of patients with chronic lymphocytic leukemia (CLL) with vaccines against several infectious diseases has proven insufficient. Data on seroconversion of patients with CLL after vaccination against severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) are still young, but accumulating evidence shows low seroconversion rates.

Methods: We conducted a prospective, noninterventional study evaluating the safety and immunogenicity of two doses of the BNT162b2 mRNA Covid-19 vaccine, administered 21 days apart in consecutive adult patients with CLL.

Bone marrow ribonucleotide reductase mRNA levels and methylation status as prognostic factors in patients with myelodysplastic syndrome treated with 5-Azacytidine.

Ribonucleotide Reductase (RNR) is a two-subunit (RRM1, RRM2) enzyme, responsible for the conversion of ribonucleotides to deoxyribonucleotides required for DNA replication. To evaluate RNR as a biomarker of response to 5-azacytidine, we measured RNR mRNA levels by a quantitative real-time PCR in bone marrow samples of 98 patients with myelodysplastic syndrome (MDS) treated with 5-azacytidine with parallel quantification of the gene promoter's methylation. Patients with low RRM1 levels had a high RRM1 methylation status ( = 0.

Modulation of IL-6/STAT3 signaling axis in CD4+FOXP3- T cells represents a potential antitumor mechanism of azacitidine.

CD4+ T cells orchestrate immune responses and are actively engaged in shaping tumor immunity. Signal transducer and activator of transcription (STAT) signaling controls the epigenetic tuning of CD4+ T-cell differentiation and polarization, and perturbed STAT signaling networks in CD4+ T cells subvert antitumor immunity in malignancies. Azacitidine (AZA), the mainstay therapy for high-risk myelodysplastic syndromes (HR-MDS), affects CD4+ T-cell polarization and function, but whether this contributes to AZA efficacy is currently unknown.