National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality.

National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-eight Greek hemoglobinopathy units reported data from diagnosis to the last follow-up or death by retrospectively completing an electronic form.

Refractive Nightmares Revisited: Calcification of a Multifocal Intraocular Lens.

Background/aim: Cataract is the leading cause of reversible blindness and visual impairment worldwide. Although cataract surgery using phacoemulsification and intraocular lens (IOL) implantation is one of the commonest surgical procedures, IOL opacification remains a potential complication that can affect the visual outcome of the operation.

Case Report: A 50-year-old female patient presented to our clinic complaining of glare and blurry vision in her right eye over the previous 6 weeks.

The outcome of patients with high-risk MDS achieving stable disease after treatment with 5-azacytidine: A retrospective analysis of the Hellenic (Greek) MDS Study Group.

The demethylating factor 5-azacytidine (5-AZA) improves survival in intermediate-2 and high-risk myelodysplastic syndrome (MDS) patients [according to the International Prognostic Score System (IPSS)] responding to treatment. However, the outcome of patients achieving stable disease (SD) is unclear. This retrospective study of the Hellenic MDS Study Group included 353 intermediate-2 or high IPSS risk patients treated with 5-AZA.

Defining Neuropsychiatric Inventory scale differences across frontotemporal dementia syndromes.

Aim: The aim of this study was to assess the ability of Neuropsychiatric Inventory (NPI) scale profiles to differentiate between distinct frontotemporal dementia (FTD) subtypes.

Methods: The NPI was used to assess 311 older patients who had been clinically diagnosed with FTD. FTD subtypes included behavioural variant FTD (bvFTD, n = 121), primary progressive aphasia (semantic variant (n = 69), non-fluent agrammatic variant (n = 31), and logopenic variant (n = 0)), FTD-motor neuron disease (n = 4), progressive supranuclear palsy (n = 43), and corticobasal syndrome (n = 43).

Anxiety and Extraversion in Lupus-Related Atherosclerosis.

Patients with systemic lupus erythematosus (SLE) are characterized by increased cardiovascular disease (CVD) risk as well as heightened rates of psychological distress. Since a link between psychological issues and CV morbidity has been previously suggested, the influence of psychological burden on subclinical atherosclerosis in SLE patients was investigated. 71 SLE patients were assessed for the presence of subclinical atherosclerosis-defined either as carotid and/or femoral plaque formation or arterial wall thickening [Intima Media Thickness (IMT) levels > 0.

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.

Frailty in elderly ICU patients in Greece: a prospective, observational study.

Background: Of particular interest is the study of frailty syndrome in older patients in recent years. This syndrome is characterized by weight loss and muscle mass, a change in eating habits, movement and endurance, and a decline in cognitive function. The purpose of the study was the prevalence of frailty syndrome in subjects aged 65 years who were hospitalized in an intensive care unit (ICU) in Greece.

B-cell activating factor and related genetic variants in lupus related atherosclerosis.

Background: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with an increased atherosclerotic risk compared to healthy population, partially explained by traditional cardiovascular (CV) risk factors. Recent data suggest B-cell activating factor (BAFF) as an important contributor in the pathogenesis of both SLE and atherosclerosis. The aim of the current study is to explore whether serum BAFF levels along with variants of the BAFF gene increase lupus related atherosclerotic risk.

Long-Term Results of Combination Treatment with Single-Dose Ranibizumab plus Photodynamic Therapy for Retinal Angiomatous Proliferation.

Purpose: To present functional and anatomic outcomes of combination therapy with ranibizumab and photodynamic therapy (PDT) in a series of retinal angiomatous proliferation (RAP) cases.

Methods: A total of 17 eyes of 17 patients with RAP were included. Thirteen eyes were treatment naïve and 4 were already on ranibizumab monotherapy.

Epidemiological trends in the diagnosis of melanoma in a Southern European population: analysis of a large database from a tertiary referral center.

The aim of this study was to present the epidemiological, clinicopathological, and treatment characteristics of patients diagnosed and treated in a tertiary referral center and to analyze independent factors associated with these characteristics. In this cohort study, epidemiological, clinicopathological, and treatment characteristics of 1461 consecutive melanoma patients diagnosed and treated in a tertiary referral center in 1987-2015 were prospectively collected in a registry. All patients underwent resection of their melanoma lesion.

Use of a biological mesh for the treatment of perineal fistula following radical colorectal resection.

Patients with postradiation therapy for malignancies and/or extensive colorectal surgery are prone to the development of enteroperineal fistulas. Application of biological meshes may prove beneficial in treating complicated enteroperineal fistulas as they provide a stable ground for closing pelvic defects even in contaminated fields.

The prognostic value of monosomal karyotype (MK) in higher-risk patients with myelodysplastic syndromes treated with 5-Azacitidine: A retrospective analysis of the Hellenic (Greek) Myelodysplastic syndromes Study Group.

In this study, we investigated the incidence and prognostic impact of monosomal karyotype (MK) in 405 higher-risk Myelodysplastic Syndromes (MDS) patients treated with 5-AZA. The MK was present in 66 out of 405 (16.3%) patients, most of whom had complex karyotype (CK).

NF-kB2 Genetic Variations are Significantly Associated with Non-Small Cell Lung Cancer Risk and Overall Survival.

During the last decade, a growing number of publications implicate NF-kB2 in NSCLC pathogenesis. Here, we investigated the clinical relevance of NF-kB2 single nucleotide polymorphisms (SNPs) rs7897947, rs11574852 and rs12769316 in NSCLC and their association with NF-kB2 protein and mRNA levels. Our data show that TT (rs7897947T >G) and AA (rs12769316G >A) genotypes were strongly associated with an increased risk for NSCLC (P = 0.

The effect of fish consumption on macula structure and function of healthy individuals: an OCT and mfERG study.

Objective: The study was designed to investigate the potential effect of fish consumption on macular structure and function of healthy individuals.

Patients And Methods: The participants were Greek, who used to consume less than one portion of fish per week since their childhood. All participants underwent body mass index (BMI) measurements and ophthalmological examination.

Epithelial map-guided anterior stromal micropuncture for the treatment of recurrent corneal erosion syndrome.

Purpose: To introduce the use of corneal epithelial mapping by anterior segment optical coherence tomography (AS-OCT) as an ancillary testing for the identification of areas of loose epithelial adherence in recurrent corneal erosion syndrome (RCES), and the subsequent treatment of the latter with anterior stromal puncture (ASP).

Methods: Five patients were presented with RCES following traumatic corneal abrasions. Following resolution of acute episodes, AS-OCT epithelial mapping was performed revealing in all patients an area of increased epithelial thickness (hot spot) corresponding to the site of loose attachment of the epithelium to the epithelial basement membrane.

Bowel perforation by lumbar-peritoneal (LP) shunt: A rare complication of neurosurgery.

Introduction: Lumbar-peritoneal (LP) and ventriculo-peritoneal (VP) shunt placement is the treatment of choice for diversion of cerebrospinal fluid (CSF) from the subarachnoid space into the peritoneal cavity. This invasive procedure has been associated with several complications, most commonly infection and obstruction. Perforation of the bowel is an extremely rare complication.

Contribution of MTHFR gene variants in lupus related subclinical atherosclerosis.

Objective: Elevated concentrations of homocysteine have been previously identified as an independent risk factor for subclinical atherosclerosis in patients with systemic lupus erythematosus (SLE). Given that heightened homocysteine levels are known to be strongly influenced by genetic factors, in the current study we investigated the contribution of high homocysteine levels as well as of functional polymorphisms of the gene encoding for the enzyme 5, 10- methylenetetrahydrofolate reductase (MTHFR) to atherosclerotic disease characterizing SLE patients.

Methods: Peripheral DNA samples from 150 SLE patients, 214 rheumatoid arthritis (RA) patients and 561 age/sex matched apparently healthy volunteers (HC) were genotyped by PCR-based assays for the detection of the MTHFR gene polymorphisms (c.

Tear Film Osmolarity in Subjects with Acute Allergic Rhinoconjunctivitis.

Background/aim: Acute allergic rhinoconjuctivitis is the most common form of ocular allergies. The pathogenetic mechanisms are based on an immunoglobulin E (IgE)-mediated hypersensitivity reaction. On the other hand, tear osmolarity has been suggested to be an index of ocular surface damage and inflammation.

Clinical, Endocrine and Imaging Characteristics of Patients with Primary Hypophysitis.

Primary hypophysitis (PH) is a rare disease with a poorly-defined natural history. Our aim was to characterise patients with PH at presentation and during prolonged follow-up. Observational retrospective study of 22 patients was conducted from 3 centres.

The European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) Registry Annual Report 2015: a summary.

Background: This article summarizes the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) Registry's 2015 Annual Report. It describes the epidemiology of renal replacement therapy (RRT) for end-stage renal disease (ESRD) in 2015 within 36 countries.

Methods: In 2016 and 2017, the ERA-EDTA Registry received data on patients who were undergoing RRT for ESRD in 2015, from 52 national or regional renal registries.

John C. Carapanayiotis (1909-1999): the Greek radiologist and pioneer of physiatry in Greece.

John C. Carapanayiotis was specialized in physical medicine and rehabilitation in the USA in 1948, at a time when the medical world in post-war Greece was ignorant of this specific medical specialty, and the political, economic and social backdrop was incapable of accepting and understanding the wealth of scientific knowledge that he was trying to introduce. At this point it should be noted that the specialty of Physical Medicine and Rehabilitation was established in Greece in 1973.

Long-term effectiveness of recommended boosted protease inhibitor-based antiretroviral therapy in Europe.

Objectives: The aim of the study was to evaluate the long-term response to antiretroviral treatment (ART) based on atazanavir/ritonavir (ATZ/r)-, darunavir/ritonavir (DRV/r)-, and lopinavir/ritonavir (LPV/r)-containing regimens.

Methods: Data were analysed for 5678 EuroSIDA-enrolled patients starting a DRV/r-, ATZ/r- or LPV/r-containing regimen between 1 January 2000 and 30 June 2013. Separate analyses were performed for the following subgroups of patients: (1) ART-naïve subjects (8%) at ritonavir-boosted protease inhibitor (PI/r) initiation; (2) ART-experienced individuals (44%) initiating the new PI/r with a viral load (VL) ≤500 HIV-1 RNA copies/mL; and (3) ART-experienced patients (48%) initiating the new PI/r with a VL >500 copies/mL.