2,693 papers found

The current diagnostic rate for patients with suspected Mendelian genetic disorders is only 25 to 58%, even though whole exome sequencing (WES) is part of the standard of care. One reason for the low diagnostic rate is that traditional WES analysis methods struggle to detect RNA splicing aberrations. It is estimated th…

Advanced maternal age is a well-established risk factor for adverse reproductive outcomes due to increased rates of aneuploidy. However, emerging evidence indicates that the genetic consequences of maternal aging extend well beyond chromosome mis-segregation. Aging oocytes acquire a broad spectrum of genetic abnormalit…

BACKGROUND: Timely and accurate assessment of electrocardiograms (ECGs) is crucial for diagnosing, triaging, and clinically managing patients. Current workflows rely on computerized ECG interpretation tools built into ECG signal acquisition systems, which use rule-based algorithms that are unreliable and frequently not…

BACKGROUND: Violence is associated with adverse health outcomes and affects healthcare utilisation, but there is limited robust evidence on this relationship in the context of violence in urban environments. This study examines subsequent patterns of healthcare utilisation by individuals who accessed healthcare as a re…

BACKGROUND: Medical students navigate a complex landscape of digital tools with potential to enhance learning. The main objectives of the current study were to investigate which digital resources are being used, which background factors are associated with utilization, perceived advantages and disadvantages of differen…

Quercetin (QUC), an extensively investigated nutraceutical, demonstrates various clinical and therapeutic effects such as anti-oxidant, anti-inflammatory, anti-malarial, anti-viral, anti-carcinogenic and cytoprotective properties. However, the effectiveness of QUC is off-set by its poor solubility, stability, permeabil…

PURPOSE: Unstructured, free-text dictation (FT), the current standard in breast magnetic resonance imaging (MRI) reporting, is considered time-consuming and prone to error. The purpose of this study is to assess the usability and performance of a novel, software-based guided reporting (GR) strategy in breast MRI. METH…

AIMS: Heart failure (HF) causes significant morbidity and mortality, but the rates and characteristics of people with HF in Australia are not well studied. SHAPE set out to describe the characteristics of HF patients seen in the real-world setting. METHODS: We analysed anonymized patient data extracted from the clinic…

OBJECTIVES: The purpose of this report is to systematically examine the possible causal mechanism(s) that may explain the association between alcohol (ethanol) consumption and the risk of developing breast and colorectal cancers. DATA SOURCES: We searched 11 external databases, including PubMed® and Embase, for s…

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants (P/LP) in genes encoding sarcomere proteins. Not all subclinical variant carriers will manifest clinically overt disease because penetrance (pr…

AIMS: Cardiogenic shock remains a significant cause of mortality despite multiple advancements in medical interventions. Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) provides crucial circulatory support but also increases left ventricular (LV) after-load, potentially worsening outcomes. Effective LV unlo…

INTRODUCTION: The coronavirus disease 2019 (COVID-19) pandemic became superimposed on the pre-existing obesity and diabetes mellitus (DM) pandemics. Since COVID-19 infection alters the metabolic equilibrium, it may induce pathophysiologic mechanisms that potentiate new-onset DM, and we evaluated this issue. METHOD: A…

BACKGROUND AND OBJECTIVES: Antiseizure medications (ASMs) are standard treatment for epilepsy. Yet, because ASMs can have adverse effects, guidelines suggest considering ASM withdrawal after a period of seizure freedom. We explored patients' perceived seizure risk, seizure risk tolerance, and risk counseling techniques…

BACKGROUND: Urinary catheterisation is a common procedure, with approximately 15% to 25% of all people admitted to hospital receiving short-term (14 days or less) indwelling urethral catheterisation at some point during their care. However, the use of urinary catheters is associated with an increased risk of developing…

The role of primary tumor resection (PTR) in patients with metastatic gastroenteropancreatic neuroendocrine tumors (GEP-NETs) undergoing peptide receptor radionuclide therapy (PRRT) remains uncertain. This meta-analysis evaluated whether PTR prior to PRRT is associated with improved survival outcomes compared to PRRT a…

Busulfan (Bu)/cyclophosphamide (Cy) is a standard conditioning platform for allogeneic transplantation. We developed a strategy separating the Cy into two pre/post-transplantation doses (PTCy), providing myeloablative conditioning and single-agent graft-versus-host disease (GVHD) prophylaxis. We investigated the impact…

Established cell lines are utilized extensively to study tumor biology and preclinical therapeutic development. However, they may not accurately recapitulate the heterogeneity of their corresponding primary disease. B-cell tumor cells are especially difficult to maintain under conventional culture conditions, limiting…

This review links plasma-induced seed-surface modification and redox signaling with emerging multi-omics responses associated with germination and stress resilience, while emphasizing that a unified causal sequence remains unproven. Nonthermal plasma (NTP) seed treatment has emerged as a promising chemical-free strateg…

PURPOSE: This study aimed to identify and synthesize published algorithms for identifying the initiation of a new line of therapy (LOT) for metastatic lung, breast, and colorectal cancer in real-world data (RWD). METHODS: We conducted a scoping review of published, English-language studies describing algorithms for id…