Initiation and maintenance of the pluripotent epiblast in pre-implantation human development is independent of NODAL signaling.

The human blastocyst contains the pluripotent epiblast from which human embryonic stem cells (hESCs) can be derived. ACTIVIN/NODAL signaling maintains expression of the transcription factor NANOG and in vitro propagation of hESCs. It is unknown whether this reflects a functional requirement for epiblast development in human embryos.

Cerebral cortical encephalitis in adults with myelin oligodendrocyte glycoprotein antibody-associated disease: A national case series.

Background And Purpose: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is a relatively recently described disease, most commonly presenting with optic neuritis and longitudinally extensive transverse myelitis. Cerebral cortical encephalitis is a rare manifestation of MOGAD.

Methods: We identified patients presenting with cerebral cortical encephalitis with positive MOG antibodies in serum across a large specialized service.

Risk assessment of patients with underlying health conditions who present for IVF treatment.

The increasing number of women with underlying health conditions seeking in vitro fertilization (IVF) necessitates a comprehensive risk assessment framework tailored to their needs. This review aims to provide a practical framework for IVF specialists to systematically assess and manage the risks associated with medically complex patients. The GRASP mnemonic (Genetics, Retrieval, Anaesthetics, Stimulation, Pregnancy) is introduced to facilitate a thorough risk assessment process.

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.

Background/aim: The application of next-generation sequencing (NGS) technology in the genetic investigation of hereditary cancer is important for clinical surveillance, therapeutic approach, and reducing the risk of developing new malignancies. The aim of the study was to explore genetic predisposition in individuals referred for hereditary cancer.

Materials And Methods: A total of 8,261 individuals were referred for multigene genetic testing, during the period 2020-2023, in the laboratory, and underwent multigene genetic testing using NGS.

Pre-thymectomy disease severity predicts outcome in acetylcholine receptor antibody-positive generalised myasthenia gravis.

Introduction: There are only a few studies exploring post-thymectomy outcome in patients with acetylcholine receptor antibody (AChR-Ab)-positive generalised myasthenia gravis (MG).

Objective: To assess the predictors of outcome in patients with AChR-Ab-positive generalised MG who underwent thymectomy.

Methods: A retrospective study of 53 patients from a single neuroscience centre in the UK.

Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.

Early-onset breast cancer constitutes a major criterion for genetic testing referral. Nevertheless, studies focusing on breast cancer patients (≤30 years) are limited. We investigated the contribution and spectrum of known breast-cancer-associated genes in 267 Greek women with breast cancer ≤30 years while monitoring their clinicopathological characteristics and outcomes.

Intensive Care Unit Mortality Trends during the First Two Years of the COVID-19 Pandemic in Greece: A Multi-Center Retrospective Study.

Data on COVID-19 mortality among patients in intensive care units (ICUs) from Eastern and/or Southern European countries, including Greece, are limited. The purpose of this study was to evaluate the ICU mortality trends among critically ill COVID-19 patients during the first two years of the pandemic in Greece and to further investigate if certain patients' clinical characteristics contributed to this outcome. We conducted a multi-center retrospective observational study among five large university hospitals in Greece, between February 2020 and January 2022.

Co-Administration of High-Dose Nebulized Colistin for Bacteremic Ventilator-Associated Pneumonia: Impact on Outcomes.

() is a difficult-to-treat (DTR) pathogen that causes ventilator-associated pneumonia (VAP) associated with high mortality. To improve the outcome of DTR A. VAP, nebulized colistin (NC) was introduced with promising but conflicting results on mortality in earlier studies.

Simulation of Electrowetting-Induced Droplet Detachment: A Study of Droplet Oscillations on Solid Surfaces.

The electrowetting-induced detachment of droplets from solid surfaces is important for numerous applications in the fields of heat transfer and fluid mechanics. The forced oscillations of droplets on solid surfaces and their ability to detach are studied. In this study, the process is efficiently simulated by implementing a powerful methodology developed by our team.

Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.

Background: Hereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cancer cases. In order to identify individuals at risk in a cost-efficient manner, family members of individuals carrying pathogenic alterations are tested only for the specific variant that was identified in their carrier relative. The purpose of this study was to investigate the clinical use and implementation of cascade family testing (CFT) in families of breast cancer patients with pathogenic/likely pathogenic variants (PVs/LPVs) in cancer-related predisposition genes.

Clinical Sepsis Phenotypes in Critically Ill Patients.

Sepsis, defined as the life-threatening dysregulated host response to an infection leading to organ dysfunction, is considered as one of the leading causes of mortality worldwide, especially in intensive care units (ICU). Moreover, sepsis remains an enigmatic clinical syndrome, with complex pathophysiology incompletely understood and a great heterogeneity both in terms of clinical expression, patient response to currently available therapeutic interventions and outcomes. This heterogeneity proves to be a major obstacle in our quest to deliver improved treatment in septic critical care patients; thus, identification of clinical phenotypes is absolutely necessary.

Susac syndrome: neurological update (clinical features, long-term observational follow-up and management of sixteen patients).

Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be challenging. Diagnosis is based on the presence of the clinical triad of central nervous system dysfunction, branch retinal artery occlusions and sensorineural hearing loss.

Bloodstream Infections in the COVID-19 Era: A Comparative Analysis between COVID-19 and Non-COVID-19 Critically Ill Patients.

The coronavirus disease (COVID-19) pandemic increased the incidence of severe infections caused by multidrug-resistant (MDR) pathogens among critically ill patients, such as (AB), whose bloodstream infections (BSIs) have been associated with significant mortality. Whether there is any difference in outcome between COVID-19 and non-COVID-19 patients with AB BSI still remains unknown. We conducted a retrospective study comparing clinical characteristics and outcomes of COVID-19 versus non-COVID-19 critically ill patients with AB BSI.

Application of next generation sequencing in cardiology: current and future precision medicine implications.

Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic loci involved. The application of advanced molecular tools, such as Next Generation Sequencing, has facilitated the genetic analysis of these disorders. Accurate analysis and variant identification are required to maximize the quality of the sequencing data.

Real-world annualized relapse rates from contemporary multiple sclerosis clinics in the UK: a retrospective multicentre cohort study.

Background: Annualized relapse rate (ARR) is used as an outcome measure in multiple sclerosis (MS) clinical trials. Previous studies demonstrated that ARR has reduced in placebo groups between 1990 and 2012. This study aimed to estimate real-world ARRs from contemporary MS clinics in the UK, in order to improve the feasibility estimations for clinical trials and facilitate MS service planning.

An update on the use of sphingosine 1-phosphate receptor modulators for the treatment of relapsing multiple sclerosis.

Introduction: Multiple sclerosis (MS) is an immune-mediated disorder of the CNS manifested by recurrent attacks of neurological symptoms (related to focal inflammation) and gradual disability accrual (related to progressive neurodegeneration and neuroinflammation). Sphingosine-1-phosphate-receptor (S1PR) modulators are a class of oral disease-modifying therapies (DMTs) for relapsing MS. The first S1PR modulator developed and approved for MS was fingolimod, followed by siponimod, ozanimod, and ponesimod.

Age at onset predicts outcome in aquaporin-4-IgG positive neuromyelitis optica spectrum disorder from a United Kingdom population.

Background: There are few studies exploring the prognostic factors in patients with aquaporin-4 (AQP4)-IgG positive neuromyelitis optica spectrum disorder (NMOSD).

Objective: To assess the predictors of outcome in patients with AQP4-antibody positive NMOSD from a United Kingdom (UK) population.

Methods: A retrospective study of 52 patients from 2 neuroscience centres in the UK Midlands.

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.

National genetic variation registries vastly increase the level of detail for the relevant population, while directly affecting patient management. Herein, we report CanVaS, a Cancer Variation reSource aiming to document the genetic variation of cancer patients in Greece. CanVaS comprises germline genetic data from 7,363 Greek individuals with a personal and/or family history of malignancy.

Modelling of Electrowetting-Induced Droplet Detachment and Jumping over Topographically Micro-Structured Surfaces.

Detachment and jumping of liquid droplets over solid surfaces under electrowetting actuation are of fundamental interest in many microfluidic and heat transfer applications. In this study we demonstrate the potential capabilities of our continuum-level, sharp-interface modelling approach, which overcomes some important limitations of convectional hydrodynamic models, when simulating droplet detachment and jumping dynamics over flat and micro-structured surfaces. Preliminary calculations reveal a considerable connection between substrate micro-topography and energy efficiency of the process.

Impact of substrate elasticity on contact angle saturation in electrowetting.

The electrostatically assisted wettability enhancement of dielectric solid surfaces, commonly termed as electrowetting-on-dielectric (EWOD), facilitates many microfluidic applications due to simplicity and energy efficiency. The application of a voltage difference between a conductive droplet and an insulated electrode substrate, where the droplet sits, is enough for realizing a considerable contact angle change. The contact angle modification is fast and almost reversible; however it is limited by the well-known saturation phenomenon which sets in at sufficiently high voltages.

The risk of poor ovarian response during repeat IVF.

Research Question: What are the incidence and risk factors for poor ovarian response (POR) during repeat IVF?

Design: A retrospective analysis of 1224 consecutive patients who underwent at least two IVF stimulations in a single centre over a 6-year period. Risk factors from the initial treatment were assessed for association with POR during repeat IVF using logistic regression analysis. A simple, practical predictive model was constructed and evaluated for accuracy and calibration, based on the factors that demonstrated significant association with subsequent POR.

Adapting in the COVID-19 Era.

Papathanakos G, Andrianopoulos I, Papathanasiou A, Lepida D, Koulouras V. Adapting in the COVID-19 Era. Indian J Crit Care Med 2020;24(12):1286-1287.