Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).

Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.

Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.

Early Identification of Exacerbations in Patients with Chronic Obstructive Pulmonary Disease (COPD).

Exacerbations of Chronic Obstructive Pulmonary Disease (COPD) have a substantial effect on overall disease management, health system costs, and patient outcomes. However, exacerbations are often underdiagnosed or recognized with great delay due to several factors such as patients' inability to differentiate between acute episodes and symptom fluctuations, delays in seeking medical assistance, and disparities in dyspnea perception. Self-management intervention plans, telehealth and smartphone-based programs provide educational material, counseling, virtual hospitals and telerehabilitation, and help COPD patients to identify exacerbations early.

Thromboelastometry-Based Profiling of Haemostatic Alterations in Neonatal Sepsis by Causative Pathogens.

: Neonatal sepsis is a serious condition with high mortality, especially in premature and low-birth-weight neonates. This study aims to examine whether the haemostatic profile of neonates with sepsis defers depending on the type of bacteria (Gram-positive or Gram-negative), by using the method of Rotational Thromboelastometry (ROTEM). : This single-centre prospective cohort study was conducted on 128 neonates with sepsis, including 95 cases caused by Gram-negative pathogens and 33 cases caused by Gram-positive bacteria.

MicroRNAs as Prognostic Biomarkers for Atrial Fibrillation Recurrence After Catheter Ablation: Current Evidence and Future Directions.

Atrial fibrillation (AF) is the most common cardiac arrhythmia encountered in clinical practice and is associated with significant morbidity and mortality. Even though catheter ablation has emerged as an available and effective treatment for AF, recurrence remains a significant challenge. This review presents the existing evidence on the prognostic role of microRNAs (miRNAs) in the prediction of AF recurrence after catheter ablation.

The Role of Rotational Thromboelastometry in Early Detection of the Hemostatic Derangements in Neonates with Systemic Candida Infection.

Background: Systemic infection (SCI) is the third most common cause of late-onset sepsis in Neonatal Intensive Care Units (NICU). While platelet involvement in fungal infections has been extensively studied, evaluation of the hemostatic mechanism in Candida infections, especially in neonates, has not been widely investigated. The aim of the current study was to evaluate the hemostatic profile of neonates with SCI through rotational thromboelastometry (ROTEM), a laboratory method that assesses the viscoelastic properties of blood.

Genetic Predisposition to Hippocampal Atrophy and Risk of Amnestic Mild Cognitive Impairment and Alzheimer's Dementia.

Background: There is a paucity of evidence on the association between genetic propensity for hippocampal atrophy with cognitive outcomes. Therefore, we examined the relationship of the polygenic risk score for hippocampal atrophy (PRShp) with the incidence of amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD) as well as the rates of cognitive decline.

Methods: Participants were drawn from the population-based HELIAD cohort.

Can Sleep Predict Conversion to Mild Cognitive Impairment and Dementia? Results From the Hellenic Longitudinal Investigation of Aging and Diet Study.

Objective: Sleep disturbance is considered a risk factor for cognitive decline in elderly individuals. Our aim in the current study was to investigate whether baseline sleep parameters can predict the conversion from normal cognition to mild cognitive impairment or dementia at follow-up. The Hellenic Longitudinal Investigation of Aging and Diet is a longitudinal population-based study designed to estimate the prevalence and incidence of cognitive decline and dementia in the older Greek population.

Inflammatory biomarkers profiles and cognition among older adults.

Inflammation plays a major role in cognitive aging. Most studies on peripheral inflammation and cognitive aging focused on selected major inflammatory biomarkers. However, inflammatory markers are regulated and influenced by each other, and it is therefore important to consider a more comprehensive panel of markers to better capture diverse immune pathways and characterize the overall inflammatory profile of individuals.

Genetic predisposition to high circulating levels of interleukin 6 and risk for Alzheimer's disease. Discovery and replication.

Importance: Aging is accompanied by immune dysregulation, which has been implicated in Alzheimer's disease (AD) pathogenesis. Individuals who are genetically predisposed to elevated levels of proinflammatory mediators might be at increased risk for AD.

Objective: To investigate whether genetic propensity for higher circulating levels of interleukin 6 (IL-6) is associated with AD risk.

Prevalence and correlates of postpartum PTSD following emergency cesarean sections: implications for perinatal mental health care: a systematic review and meta-analysis.

Background: The increasing awareness of the emotional consequences of emergency cesarean deliveries (C-sections) highlights their substantial role in fostering postpartum post-traumatic stress disorder (PTSD). This systematic review and meta-analysis aim to evaluate the prevalence and determinants of PTSD following emergency C-sections, as well as the implications of these events on maternal mental health and welfare.

Methods: Undertaking extensive searches of Scopus, PubMed, PsycINFO, and Google Scholar, we have incorporated studies published from 2013 onwards that examined the occurrence of PTSD following emergency C-sections.

Optimal Strategy for Complete Revascularization in ST-Segment Elevation Myocardial Infarction and Multivessel Disease: A Network Meta-Analysis.

Background: In patients with ST-segment elevation myocardial infarction (STEMI) and multivessel coronary artery disease, most but not all randomized trials have reported that complete revascularization (CR) offers advantages over culprit vessel-only revascularization. In addition, the optimal timing and assessment methods for CR remain undetermined.

Objectives: The purpose of this study was to identify the optimal revascularization strategy in patients with STEMI and multivessel disease, using a network meta-analysis of randomized controlled trials.

-Related Myocarditis: A Case Report and Review of the Literature.

, a common cause of gastroenteritis worldwide, has also been associated with rare extraintestinal infections, including myocarditis. We report a unique case of a 24-year-old male who presented with febrile diarrhea and acute chest pain. Diagnostic investigations revealed elevated cardiac troponin levels, normal electrocardiography findings, and myocardial inflammation on cardiac magnetic resonance imaging, confirming the diagnosis of acute myocarditis.

Clinical remission in patients with severe eosinophilic asthma treated with mepolizumab: A analysis of RELIght study.

Remission of asthma can occur as part of the natural history of the disease; however, the use of biologics can result in disease remission in some patients. In this post hoc analysis of the RELIght study, we aimed to evaluate clinical remission in real life among patients treated with mepolizumab, to detect possible differences between "remitters" and "nonremitters," and to evaluate possible predictors of remission. Clinical remission was defined as the absence of asthma exacerbations, discontinuation of oral corticosteroids (OCS), achievement of asthma control (Asthma Control Test [ACT] ≥ 20), and stable or improved lung function.

Prevalence and Risk Factors for Atherosclerotic Cardiovascular Disease in 7704 Individuals: An Analysis from the Greek Registry for the Prevalence of Familial Hypercholesterolemia (GRegistry-FH).

The intention of this study was to profile the cohort from the Greek Registry for the prevalence of Familial Hypercholesterolemia (GRegistry-FH) by estimating the prevalence of coronary artery disease (CAD), myocardial infarction (MI), stroke, dyslipidemia, arterial hypertension, diabetes mellitus (DM), pre-DM, smoking, abnormal thyroid function (ATF), and lipid values. The GRegistry-FH is a prospective study involving door-to-door interviews conducted by trained interviewers. Overall, 7704 individuals aged ≥18 years, randomly selected from all the regions of Greece, participated.

Assessing Disability in Thalassaemia: A Position Statement by the Thalassaemia International Federation.

Thalassemia is not currently conceived per se as a disability, but it can be a disability-inducing condition if poorly treated or as complications increase with age. People living with thalassemia do not wish, on the one hand, to be considered disabled persons to avoid stigma and loss of opportunities to achieve social inclusion in all paths of life while, on the other, they are in need of lifelong appropriate, disease-specific health and social care, including disability allowances and schemes, in order to be able to smoothly integrate into society and achieve professional, educational, personal, and social goals. The ongoing debate on whether thalassemia is a disability or not is thus complex and inconclusive and has created a vast heterogeneity of policies and approaches across the globe.

Do we need a patient surgical class categorization similar to the American Society of Anesthesiologists (ASA) grade?

We aim to enhance the reporting of complications in surgical operations by establishing a classification for patient complexity. Current comorbidity assessment tools are insufficient due to their reliance on physiological parameters. The proposed patient surgical class category (PSCC) aims to address these limitations and enhance results by incorporating relevant aspects of a patient's surgical history.

European S2k guidelines for hidradenitis suppurativa/acne inversa part 2: Treatment.

Introduction: This second part of the S2k guidelines is an update of the 2015 S1 European guidelines.

Objective: These guidelines aim to provide an accepted decision aid for the selection, implementation and assessment of appropriate and sufficient therapy for patients with hidradenitis suppurativa/acne inversa (HS).

Methods: The chapters have been selected after a Delphi procedure among the experts/authors.

The Effect of Medial Circumflex Artery Variation on the Success Rate of Gracilis Flap Procedures: A Systematic Review.

This systematic review examines the impact of anatomical variations in the medial circumflex artery (MCA) on the outcomes of gracilis flap procedures in reconstructive surgery. Incorporating 16 studies, this review analyzes how different MCA variants influence the success rates of these procedures. Findings highlight critical MCA variations, including cases of split and double pedicles and differences in pedicle length and branching patterns, which can complicate flap harvesting and vascular anastomosis.