Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

Blood matters: the hematological signatures of Coronavirus infection.

Recent developments have broadened our perception of SARS-CoV-2, indicating its capability to affect the body systemically beyond its initial recognition as a mere respiratory pathogen. However, the pathways of its widespread are not well understood. Employing a dual-modality approach, we integrated findings from a Murine Hepatitis Virus (MHV) infection model with corroborative clinical data to investigate the pervasive reach of Coronaviruses.

Cultural safety support and requirements for international medical graduates in Aotearoa New Zealand.

Aim: To investigate the requirements for, and process of, cultural safety training for international medical graduates (IMGs) when seeking to gain registration in Aotearoa New Zealand.

Method: To identify cultural safety standards and policies for IMGs: 1) a review of training policies of seven specialist colleges and other key organisations was carried out, and 2) four key informant interviews were conducted, and interviews were recorded and transcribed via Zoom. Thematic analysis was used to analyse the transcripts.

(CAG) Microsatellite and c.444T>G (p.Asp148Glu) Polymorphisms as Independent Prognostic Biomarkers in Prostate Cancer: Insights from an Argentinian Cohort.

Background/objectives: Prostate cancer (PCa) is the leading malignancy and the third most common cause of cancer-related death in Argentinian men. Predicting outcomes in localized PCa remains difficult due to tumor heterogeneity. In this study, we assessed the impact of (CAG) and c.

Unmasking Neuroendocrine Prostate Cancer with a Machine Learning-Driven Seven-Gene Stemness Signature That Predicts Progression.

Prostate cancer (PCa) poses a significant global health challenge, particularly due to its progression into aggressive forms like neuroendocrine prostate cancer (NEPC). This study developed and validated a stemness-associated gene signature using advanced machine learning techniques, including Random Forest and Lasso regression, applied to large-scale transcriptomic datasets. The resulting seven-gene signature (, , , , , , and ) was validated across independent cohorts and patient-derived xenograft (PDX) models.

Propagation of sharp wave-ripple activity in the mouse hippocampal CA3 subfield in vitro.

Sharp wave-ripple complexes (SPW-Rs) are spontaneous oscillatory events that characterize hippocampal activity during resting periods and slow-wave sleep. SPW-Rs are related to memory consolidation - the process during which newly acquired memories are transformed into long-lasting memory traces. To test the involvement of SPW-Rs in this process, it is crucial to understand how SPW-Rs originate and propagate throughout the hippocampus.

Long-term persistence of carrier-bound fibrin sealant (TachoSil) following abdominal surgery: a decade-long follow-up study.

This study analyzed the long-term effects of carrier-bound fibrin sealant (CBFS) following abdominal surgery by tracking patients for years post-application. From 2006 to 2022, patients who underwent this procedure were contacted via telephone. Those who died due to underlying diseases, natural causes, or refused the check-up were excluded from the study.

The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions.

In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as 'myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality'. They are morpho-functionally classified as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy with the addition of the left ventricular non-dilated cardiomyopathy that describes intermediate phenotypes not fulfilling standard disease definitions despite the presence of myocardial disease on cardiac imaging or tissue analysis. The new ESC guidelines provide 'a guide to the diagnostic approach to cardiomyopathies, highlight general evaluation and management issues, and signpost the reader to the relevant evidence base for the recommendations'.

Factors of poor prognosis in newborns with a prenatal diagnosis of gastroschisis in Bogota, Colombia.

Objectives: To identify factors associated with poor prognoses in newborns with a prenatal diagnosis of gastroschisis in eight hospitals in Bogota, Colombia, from 2011 to 2022.

Methods: A multi-center retrospective case-control study was conducted on newborns with gastroschisis in eight hospitals in Bogota, Colombia. Poor prognosis was defined as the presence of sepsis, intestinal complications, or death.

Pathophysiology of non-cystic fibrosis bronchiectasis in children and adolescents with asthma: A protocol for systematic review and meta-analysis.

Background: The pathophysiological mechanisms by which asthma and bronchiectasis are associated are still unclear. The association of these two diseases can result in more severe symptoms and a greater number of exacerbations.

Objective: The aim of this systematic review is to collect evidence of the pathophysiology of non-cystic fibrosis bronchiectasis with associated asthma in children and adolescents, aged 6-18 years old.

An overview of air pollution research in Chile: Bibliometric analysis and scoping review, challenger and future directions.

This study provides a comprehensive overview and bibliometric analysis of air pollution research in Chile from 1980 to 2022. The analysis reveals a significant increase in scientific production, a 9.2 annual growth rate, and an H-index of 60.

Acute cerebral microbleeds detected on high resolution head CT presenting with transient neurologic events.

Introduction: Cerebral microbleeds (CMBs) are deposits of hemosiderin-laden macrophages that can be visualized on T2-weighted MRI sequences as small, ovoid areas of signal void. These markers represent hemorrhagic cerebral small vessel disease and are usually subclinical and asymptomatic. In these cases, we present two patients who presented with symptomatic, acute CMBs.

Acute cholecystitis: how to avoid subtotal cholecystectomy-preliminary results.

Background: The aim of this manuscript is to illustrate a new method permitting safe cholecystectomy in terms of complications with respect to the common bile duct (CBD).

Methods: The core of this new technique is identification of the continuity of the cystic duct with the infundibulum. The cystic duct can be identified between the inner gallbladder wall and inflamed outer wall.

Cesena guidelines: WSES consensus statement on laparoscopic-first approach to general surgery emergencies and abdominal trauma.

Background: Laparoscopy is widely adopted across nearly all surgical subspecialties in the elective setting. Initially finding indication in minor abdominal emergencies, it has gradually become the standard approach in the majority of elective general surgery procedures. Despite many technological advances and increasing acceptance, the laparoscopic approach remains underutilized in emergency general surgery and in abdominal trauma.

AKT1 induces Nanog promoter in a SUMOylation-dependent manner in different pluripotent contexts.

AKT/PKB is a kinase crucial for pluripotency maintenance in pluripotent stem cells. Multiple post-translational modifications modulate its activity. We have previously demonstrated that AKT1 induces the expression of the pluripotency transcription factor Nanog in a SUMOylation-dependent manner in mouse embryonic stem cells.

Relation of MRI-Visible Perivascular Spaces and Other MRI Markers of Cerebral Small Vessel Disease.

Perivascular spaces (PVS) visible on brain MRI signal cerebral small vessel disease (CSVD). The coexistence of PVS with other CSVD manifestations likely increases the risk of adverse neurological outcomes. We related PVS to other CSVD manifestations and brain volumes that are markers of vascular brain injury and neurodegeneration.

Hunger- and thirst-sensing neurons modulate a neuroendocrine network to coordinate sugar and water ingestion.

Consumption of food and water is tightly regulated by the nervous system to maintain internal nutrient homeostasis. Although generally considered independently, interactions between hunger and thirst drives are important to coordinate competing needs. In , four neurons called the interoceptive subesophageal zone neurons (ISNs) respond to intrinsic hunger and thirst signals to oppositely regulate sucrose and water ingestion.