Disease characteristics and outcomes of acute myeloid leukemia in germline deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.

Effects of infection on neonates: a meta-analysis.

Objective: (UU) is an opportunistic pathogen transmitted from mother to fetus, potentially causing neonatal diseases. Despite extensive research, its association with these diseases remains uncertain. This study analyzes the effects of UU infection on newborns.

Cardiac strangulation with chronic ab-extrinseco occlusion of the left-circumflex artery from an epicardial lead: a case report.

Background: Cardiac strangulation (CS) from epicardial pacing leads (EPLs) is a rare and potentially lethal mechanical complication associated with epicardial pacemaker (PM) implantation.

Case Summary: We report a case of a 44-year-old-female patient presenting with chest and left shoulder pain in the absence of reported trauma with history of congenital atrioventricular block treated with epicardial PM implantation during the childhood and subsequent transvenous reimplantation over the years. Troponin I resulted within normal values and ECG, transthoracic echocardiography and chest X-ray documented no acute cardiopulmonary findings.

Evolving trends of systematic reviews on virtual reality for stroke rehabilitation.

Objective: Virtual reality (VR) therapies have increasingly been adopted across medical fields, including neurorehabilitation for stroke recovery. Evidence from several systematic reviews (SRs) was explored, covering different aspects. We aim to explore overlaps, gaps, and trends of SRs focusing on VR stroke rehabilitation providing a foundation for improving the field and addressing current limitations.

Enhancing AI Chatbot Responses in Health Care: The SMART Prompt Structure in Head and Neck Surgery.

Objective: This study aims to evaluate the impact of prompt construction on the quality of artificial intelligence (AI) chatbot responses in the context of head and neck surgery.

Study Design: Observational and evaluative study.

Setting: An international collaboration involving 16 researchers from 11 European centers specializing in head and neck surgery.

Hygrometry behavior during high-flow nasal oxygen therapy and non-invasive mechanical ventilation: A narrative review of bench to clinical studies.

Recently, there has been growing interest in knowing the best hygrometry level during high-flow nasal oxygen and non-invasive ventilation (NIV) and its potential influence on the outcome. Various studies have shown that breathing cold and dry air results in excessive water loss by nasal mucosa, reduced mucociliary clearance, increased airway resistance, reduced epithelial cell function, increased inflammation, sloughing of tracheal epithelium, and submucosal inflammation. With the Coronavirus Disease 2019 pandemic, using high-flow nasal oxygen with a heated humidifier has become an emerging form of non-invasive support among clinicians.

Incident thrombocytopenia and bleeding risk in elderly patients with atrial fibrillation on direct oral anticoagulants: insights from the ATHEROsclerosis in Atrial Fibrillation study.

Background: The bleeding risk of patients with atrial fibrillation (AF) changes over time. Most studies thus far evaluated only the baseline bleeding risk with discordant results. The impact of incident thrombocytopenia during direct oral anticoagulant (DOAC) therapy and its relation to bleeding has not been previously investigated.

Rapid rise in atmospheric CO marked the end of the Late Palaeozoic Ice Age.

Atmospheric CO is thought to play a fundamental role in Earth's climate regulation. Yet, for much of Earth's geological past, atmospheric CO has been poorly constrained, hindering our understanding of transitions between cool and warm climates. Beginning ~370 million years ago in the Late Devonian and ending ~260 million years ago in the Permian, the Late Palaeozoic Ice Age was the last major glaciation preceding the current Late Cenozoic Ice Age and possibly the most intense glaciation witnessed by complex lifeforms.

Blood phosphorylated Tau181 reliably differentiates amyloid-positive from amyloid-negative subjects in the Alzheimer's disease continuum: A systematic review and meta-analysis.

Introduction: Blood-based biomarkers seem promising for the diagnosis of Alzheimer's disease (AD).

Methods: We performed a systematic review and meta-analysis on the potential of blood phosphorylated Tau181 (p-tau181) to differentiate amyloid-positive (A+) and amyloid-negative (A-) subjects. Two meta-analyses were conducted, showing the mean p-tau values in blood and cerebrospinal fluid (CSF) in the A+ and A- group, and the second comparing the mean p-tau concentrations in blood and CSF among A+ versus A- participants, by laboratory assessment method.

The economic burden of post-endoscopic retrograde cholangiopancreatography (ERCP) procedure infections in Italy.

Introduction: The infections of multidrug-resistant organisms (MDROs) associated with duodenoscopes during endoscopic retrograde cholangiopancreatography (ERCP) procedure have become a significant cause for concern, especially in fragile patients. While the clinical impacts of these infections are well-documented, their economic implications remain underexplored. This study assesses the incidence and economic burden of post-ERCP infections in Italy using an administrative database.

Prior Information Shapes Perceptual Confidence.

Decisional confidence refers to the subjective evaluation of the accuracy of a decision based on sensory information. While these judgments are typically grounded in the strength of evidence leading to a decision, they are also subjected to influence from top-down factors such as prior expectations. Previous research has highlighted the impact of prior information on decision parameters such as reaction times and decision criteria placement.

Patient-reported Outcome Measures and Decision Regret After Prostate-specific Membrane Antigen-targeted Radioguided Surgery for Oligorecurrent Prostate Cancer.

Background And Objective: In patients with oligorecurrent prostate cancer (PCa), prostate-specific membrane antigen-targeted radioguided surgery (PSMA-RGS) prolongs treatment-free survival. Data on patient-reported outcome measures (PROMs) are lacking.

Methods: A retrospective assessment of validated PROMs (12-item Short Form Health Survey [SF-12], 26-item Expanded Prostate Index Composite, and Decision Regret Scale [DRS]) was performed before and after PSMA-RGS for oligorecurrent PCa.

Neuro and Psychomotor Therapist of Developmental Age Professional in Italy: An Anomaly or an Opportunity?

The aim of this work is to explore the distinct role of the Neuro and Psychomotor Therapist of Developmental Age (TNPEE) within the Italian health care system, examining challenges in recognizing and comparing this profession with international counterparts, particularly physiotherapists and occupational therapists. The historical evolution and educational framework, integrated into the Italian university model, provide a foundation for TNPEE's competencies in rehabilitation and habilitation. The TNPEE operates within the bio-psycho-social model, addressing the developmental age range with a holistic approach.

Neurovisual Training With Acoustic Feedback: An Innovative Approach for Nystagmus Rehabilitation.

Nystagmus has various clinical manifestations, including downbeat, upbeat, and torsional types, each associated with distinct neurologic features. Current rehabilitative interventions focusing on fixation training and optical correction often fail to achieve complete resolution. When nystagmus coexists with fragile X-associated tremor/ataxia syndrome (FXTAS), functional impairments worsen, particularly affecting balance.

Accurate Reconstruction of Right Heart Shape and Motion From Cine-MRI for Image-Driven Computational Hemodynamics.

Accurate reconstruction of the right heart geometry and motion from time-resolved medical images is crucial for diagnostic enhancement and computational analysis of cardiac blood dynamics. Commonly used segmentation and/or reconstruction techniques, exclusively relying on short-axis cine-MRI, lack precision in critical regions of the right heart, such as the ventricular base and the outflow tract, due to its unique morphology and motion. Furthermore, the reconstruction procedure is time-consuming and necessitates significant manual intervention for generating computational domains.

Conversion Therapy for Stage IV Gastric Cancer: Report From the Expert Consensus Meeting at KINGCA WEEK 2024.

Conversion therapy is a treatment strategy that shifts from palliative systemic therapy to curative surgical treatment for primary and/or metastatic stage IV gastric cancer (GC). To address its clinical statements, the Korean Gastric Cancer Association aims to present a consensus on conversion therapy among experts attending KINGCA WEEK 2024. The KINGCA Scientific Committee and Development Working Group for Korean Practice Guidelines prepared preformulated topics and 9 clinical statements for conversion therapy.

Oxidised Apolipoprotein Peptidome Characterises Metabolic Dysfunction-Associated Steatotic Liver Disease.

Background: Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) encompasses a spectrum of histological conditions ranging from simple steatosis to fibrosing steatohepatitis, and is a risk factor for cardiovascular diseases (CVD). While oxidised apolipoproteins A and B have been linked to obesity and CVD, the association between other oxidised apolipoproteins and MASLD is yet to be established. To fill this gap, we characterised the circulating serum peptidome of patients with MASLD.

Highlights From the 2nd Turin International Workshop on Liver Machine Perfusion.

The 2nd Turin International Workshop on Liver Machine Perfusion took place in Turin, Italy, on November 22, 2024. Leading experts came together to discuss the current applications, limitations, and future directions of this technology, with a primary focus on but not limited to liver transplantation. This report provides a summary of the evidence, insights, and debates shared during the meeting.

Fatty-acid amide hydrolase inhibition mitigates Alzheimer's disease progression in mouse models of amyloidosis.

The endocannabinoid N-arachidonoylethanolamine (AEA) is a pro-homeostatic bioactive lipid known for its anti-inflammatory, anti-oxidative, immunomodulatory, and neuroprotective properties, which may contrast/mitigate Alzheimer's disease (AD) pathology. This study explores the therapeutic potential of targeting fatty acid amide hydrolase (FAAH), the major enzyme degrading AEA, in mouse models of amyloidosis (APP/PS1 and Tg2576). Enhancing AEA signaling by genetic deletion of FAAH delayed cognitive deficits in APP/PS1 mice and improved cognitive symptoms in 12-month-old AD-like mice.

CO Adsorption on a Single-Atom Catalyst Stably Embedded in Graphene.

Confined single metal atoms in graphene-based materials have proven to be excellent catalysts for several reactions and promising gas sensing systems. However, whether the chemical activity arises from the specific type of metal atom or is a direct consequence of the confinement itself remains unclear. In this work, through a combined density functional theory and experimental surface science study, we address this question by investigating Co and Ni single atoms embedded in graphene (Gr) on a Ni(111) support.

DAA-PASS: A Prospective Evaluation of HCC Recurrence After Direct Acting Antiviral Therapy.

Direct-acting antiviral (DAA) therapy is associated with a significant reduction in hepatocellular carcinoma (HCC) incidence among patients with cirrhosis, but data are conflicting about the risk of recurrence following DAA therapy. DAA-PASS was a prospective, pragmatic, observational study designed to estimate the risk of HCC recurrence associated with DAA therapy exposure during routine clinical care. Eligible patients were DAA treatment naive with Barcelona Clinic Liver Cancer (BCLC) stage A.

Impact of particulate matter exposure on melanoma risk: A multicentre case-control study.

Background: The relationship between particulate matter (PM) exposure and melanoma risk remains largely unexplored. This study aims to investigate the association between PM10 and PM2.5 long-term exposure and melanoma risk.

Unfolded protein response: An essential element of intestinal homeostasis and a potential therapeutic target for inflammatory bowel disease.

Different physiological and pathological situations can produce alterations in the cell's endoplasmic reticulum (ER), leading to a condition known as ER stress, which can trigger an intricate intracellular signal transduction system known as the unfolded protein response (UPR). UPR is primarily tailored to restore proteostasis and ER equilibrium; otherwise, if ER stress persists, it can cause programmed cell death as a cytoprotective mechanism and drive inflammatory processes. Therefore, since intestinal cells strongly rely on UPR for their biological functions and unbalanced UPR has been linked to inflammatory, metabolic, and immune disorders, here we discussed the role of the UPR within the intestinal tract, focusing on the UPR contribution to inflammatory bowel disease development.