Detection rate for ESR1 mutations is higher in circulating-tumor-cell-derived genomic DNA than in paired plasma cell-free DNA samples as revealed by ddPCR.

Plasma cell-free DNA (cfDNA) analysis to track estrogen receptor 1 (ESR1) mutations is highly beneficial for the identification of tumor molecular dynamics and the improvement of personalized treatments for patients with metastatic breast cancer (MBC). Plasma-cfDNA is, up to now, the most frequent liquid biopsy analyte used to evaluate ESR1 mutational status. Circulating tumor cell (CTC) enumeration and molecular characterization analysis provides important clinical information in patients with MBC.

The Impact of Maternal Graves' Disease on Neonatal Thyroid Function: A Systematic Review.

Maternal Graves' disease (GD) poses a significant risk to neonatal thyroid function due to the transplacental transfer of thyrotropin receptor antibodies (TRAbs). This systematic review aims to assess the impact of maternal GD on neonatal thyroid outcomes and identify key maternal factors influencing these outcomes. A comprehensive literature search was conducted across PubMed, Scopus, and Cochrane, resulting in the inclusion of 18 studies published from 2014 to 2024.

Optic and peripheral neuropathy associated with short and prolonged administration of tedizolid: a review.

Introduction: Tedizolid is a novel antibiotic of the class ofoxazolidinones. This review evaluates the published literature on the optic andperipheral neuropathy associated with short and prolonged administration oftedizolid.

Areas Covered: A review of published data from 4 databases was conducted,regarding the development of optic and peripheral neuropathy in patients whoreceived tedizolid for short or prolonged duration.

Association between simple, combined lipid markers and 20-year cumulative incidence of type 2 diabetes: the ATTICA cohort study (2002-2022).

Background: The aim of this study was to evaluate the association between simple, combined lipid biomarkers, and 20-year cumulative incidence of new type 2 diabetes mellitus (T2DM) among adults participating in the ATTICA cohort study (2002-2022).

Methods: The present analysis included data from 2000 individuals free of T2DM at baseline (age 43 ± 13 years; 51% women). Sociodemographic, anthropometric, lifestyle, clinical, and biochemical parameters were collected at baseline and follow-up examinations; combined lipid markers were evaluated.

Breast cancer brain metastases genomic profiling identifies alterations targetable by immune-checkpoint and PARP inhibitors.

Understanding the genomic landscape of breast cancer brain metastases (BCBMs) is key to developing targeted treatments. In this study, targetable genomic profiling was performed on 822 BCBMs, 11,988 local breast cancer (BC) biopsies and 15,516 non-central nervous system (N-CNS) metastases (all unpaired samples) collected during the course of routine clinical care by Foundation Medicine Inc (Boston, MA). Clinically relevant genomic alterations were significantly enriched in BCBMs compared to local BCs and N-CNS metastases.

Promoting Prevention and Targeting Remission of Asthma A EUFOREA Consensus Statement on Raising the Bar in Asthma Care.

Topic Importance: Asthma is a common multifaceted respiratory disease with a major impact on quality of life. Despite increased insights into mechanisms underlying various asthma phenotypes/endotypes and the availability of targeted biologic treatment options, a substantial proportion of patients remains uncontrolled with risk of exacerbations, requiring systemic corticosteroids, and progressive disease. Current international guidelines advocate a personalized management approach to patients with uncontrolled severe asthma.

Clinical characteristics and outcome of central nervous system tumors harboring NTRK gene fusions.

Purpose: TRK fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients.

Experimental Design: We conducted an international retrospective cohort study of patients with TRK fusion-driven CNS tumors.

Mechanical versus bioprosthetic valve for aortic valve replacement in dialysis patients: Systematic review and individual patient data meta-analysis.

Objective: There is little evidence regarding the most beneficial choice between a mechanical and a bioprosthetic valve in the aortic position in dialysis patients. This meta-analysis compares the survival and freedom from reintervention rates between mechanical and bioprosthetic valves in patients on dialysis undergoing aortic valve replacement surgery.

Methods: Two databases were searched, and the systematic review was performed in accordance with the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement.

Peak left atrial longitudinal strain and incident atrial fibrillation in the general population: a systematic review and meta-analysis.

Background: Atrial fibrillation (AF) is the commonest supraventricular arrhythmia in adults. Timely AF diagnosis seems to ameliorate patients prognosis.

Purpose: To investigate the association between peak left atrial longitudinal strain (PALS) and new onset AF in the general population.

International Consensus Statement on Platelet Function and Genetic Testing in Percutaneous Coronary Intervention: 2024 Update.

Current evidence indicates that dual antiplatelet therapy with aspirin plus a P2Y inhibitor is essential for the prevention of thrombotic events after percutaneous coronary interventions. However, dual antiplatelet therapy is associated with increased bleeding which may outweigh the benefits. This has set the foundations for customizing antiplatelet treatments to the individual patient.

Duration of Antimicrobial Treatment in Adult Patients with Pneumonia: A Narrative Review.

Pneumonia remains a major global health concern, causing significant morbidity and mortality among adults. This narrative review assesses the optimal duration of antimicrobial treatment in adults with community-acquired pneumonia (CAP), hospital-acquired pneumonia (HAP), and ventilator-associated pneumonia (VAP). Current evidence about the impact of treatment duration on clinical outcomes demonstrates that shorter antibiotic courses are non-inferior, regarding safety and efficacy, compared to longer courses, particularly in patients with mild to moderate CAP, which is in line with the recommendations of international guidelines.

Heart Failure: A Deficiency of Energy-A Path Yet to Discover and Walk.

Heart failure is a complex syndrome and our understanding and therapeutic approach relies mostly on its phenotypic presentation. Notably, the heart is characterized as the most energy-consuming organ, being both a producer and consumer, in order to satisfy multiple cardiac functions: ion exchange, electromechanical coordination, excitation-contraction coupling, etc. By obtaining further knowledge of the cardiac energy field, we can probably better characterize the basic pathophysiological events occurring in heart disease patients and understand the metabolic substance changes, the relationship between the alteration of energy production/consumption, and hence energetic deficiency not only in the heart as a whole but in every single cardiac territory, which will hopefully provide us with the opportunity to uncover the beginning of the heart failure process.

Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.

Objective: Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30years of age. Intronic tandem repeat expansions (TREs) in RFC1 and FGF14 have recently emerged as common causes of LOCA. The relative contribution of classic vs.

Hellenic Association for the Study of the Liver (HASL): revised clinical practice guidelines for autoimmune hepatitis.

Autoimmune hepatitis (AIH) is a rare liver disease, of unknown origin, characterized by considerable heterogeneity. AIH can affect both sexes, of all ages, ethnicities and races. The revised Clinical Practice Guidelines (CPGs) of the Hellenic Association for the Study of the Liver aim to provide updated guidance to clinicians.

Totally Endoscopic Coronary Artery Bypass Graft: Systematic Review and Meta-Analysis of Reconstructed Patient-Level Data.

Objective: The standard approach for coronary artery bypass grafting is open surgery. Totally endoscopic coronary artery bypass has emerged as an alternative for selected patients. This meta-analysis sought to evaluate clinical outcomes with this emerging technique.

Routine Imaging or Symptomatic Follow-Up After Resection of Pancreatic Adenocarcinoma.

Importance: International guidelines lack consistency in their recommendations regarding routine imaging in the follow-up after pancreatic resection for pancreatic ductal adenocarcinoma (PDAC). Consequently, follow-up strategies differ between centers worldwide.

Objective: To compare clinical outcomes, including recurrence-focused treatment and survival, in patients with PDAC recurrence who received symptomatic follow-up or routine imaging after pancreatic resection in international centers affiliated with the European-African Hepato-Pancreato-Biliary Association (E-AHPBA).

External Factors Modulating Pain and Pain-Related Functional Impairment in Cervical Dystonia.

Background: Little is known about factors modulating pain and pain-related functional impairment in isolated cervical dystonia (CD).

Objective: The aim was to assess the prevalence and interrelationship between pain-modulating factors and pain-related determinants of functional impairment and quality of life in CD.

Methods: We analyzed pain-aggravating and pain-relieving external factors, the degree of pain-related functional impact on routine activities, and the relationship between these and pain severity, using cross-sectional data collected using the Pain in Dystonia Scale (PIDS) from 85 participants with CD.