Challenges of genetics in the diagnosis of sudden cardiac death. Interest of forensic and legal medicine.

Sudden cardiac death is the leading cause of death in developed countries and a small but significant number of cases cannot be explained after a thorough autopsy process. Cases of sudden cardiac death in people under 40years of age are mainly due to structural heart disease or cardiomyopathies and arrhythmogenic diseases or channelopathies. In these cases, the search for associated genetic factors through molecular autopsy may help to find the cause of unexplained sudden cardiac death, through genetic diagnosis of previously undiagnosed channelopathies or cardiomyopathies.

Mutant prevention concentrations, resistance evolution dynamics, and mechanisms of resistance to imipenem and imipenem/relebactam in carbapenem-susceptible isolates showing ceftazidime/avibactam resistance.

carbapenemase (KPC) variants selected during ceftazidime/avibactam treatment usually develop susceptibility to carbapenems and carbapenem/β-lactamase inhibitors, such as imipenem and imipenem/relebactam. We analyzed imipenem and imipenem/relebactam single-step mutant frequencies, resistance development trajectories and differentially selected resistance mechanisms using two representative isolates that had developed ceftazidime/avibactam resistance during therapy (ST512/KPC-31 and ST258/KPC-35). Mutant frequencies and mutant prevention concentrations were measured in Mueller-Hinton agar plates containing incremental concentrations of imipenem or imipenem/relebactam.

Four-month real-life response to Tezepelumab in patients with multi-failure to other biologics.

To evaluate the response to Tezepelumab in real clinical practice, we performed an analysis of the clinical, functional, and inflammatory characteristics of 13 patients with severe asthma after completing four doses of Tezepelumab was performed. When comparing clinical parameters such as asthma control test (ACT), FENO value, exacerbations in the last 4 months, blood eosinophils and FEV1%, before receiving Tezepelumab and after four doses of Tezepelumab, statistically significant differences were found in ACT levels (p=0.0072), exacerbations (p=0.

Homozygous familial hypercholesterolemia in Spain. Data from Registry of the Spanish Atherosclerosis Society.

Unlabelled: Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by the presence of two pathogenic variants in the LDLR, APOB, PCSK9 or LDLRAP1 genes, which cause very high levels of LDL cholesterol and premature atherosclerotic cardiovascular disease (ASCVD).The objective of this study is to analyze the current situation regarding diagnosis, cardiovascular disease, lipid-lowering treatment and degree of control of lipids in patients with HoFH in the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Methods: Subjects with HoFH, confirmed by the presence of two pathogenic variants in the genes mentioned above, included in the registry from 2013 to June 2023 with an updated review were analyzed.

Transforming respiratory diseases management: a CMO-based hospital pharmaceutical care model.

Introduction: Respiratory diseases encompass a diverse range of conditions that significantly impact global morbidity and mortality. While common diseases like asthma and COPD exhibit moderate symptoms, less prevalent conditions such as pulmonary hypertension and cystic fibrosis profoundly affect quality of life and mortality. The prevalence of these diseases has surged by approximately 40% over the past 3 decades.

Impacts of MDR/XDR-TB on the global tuberculosis epidemic: Challenges and opportunities.

Tuberculosis (TB) is the world's second-deadliest infectious disease. Despite the availability of drugs to cure TB, control of TB is hampered by the emergence of multidrug-resistant tuberculosis (MDR-TB) and extensively drug-resistant tuberculosis (XDR-TB). The presence of MDR/XDR-TB is alarming due to the low detection rate, high treatment failure, and high mortality.

emergence of resistance to ceftazidime/avibactam through modification of chromosomal AmpC β-lactamase in .

We describe the emergence of resistance to ceftazidime/avibactam via modification of AmpC in a clinical isolate during therapy with this combination. Paired ceftazidime/avibactam-susceptible/resistant isolates were obtained before and during ceftazidime/avibactam treatment. Whole genome sequencing revealed a differential mutation in AmpC (R148W) in the ceftazidime/avibactam-resistant isolate.

Magnetic resonance imaging in patients with cardiac implantable electronic devices: the RESONANCE Spanish registry.

Aims: Despite increasing evidence demonstrating the safety of magnetic resonance imaging (MRI) in patients with cardiac implantable electronic devices (CIEDs), this procedure is often neglected in this population. This Spanish registry aimed to determine the proportion of MRI referrals and performance among patients with pacemakers (PMs) or implantable cardioverter defibrillators (ICDs).

Methods And Results: This prospective, multicentre, open-label registry involved 21 Spanish centres.

Clinical Features and Outcomes of Pediatric -Related Dilated Cardiomyopathy.

Background: Although genetic variants in are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric -related DCM.

Methods And Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.

Left atrial function during exercise stress echocardiography as a sign of paroxysmal/persistent atrial fibrillation.

Objective: Atrial cardiomyopathy is closely associated with atrial fibrillation (AF), and some patients exhibit no dysfunction at rest but demonstrate evident changes in left atrial (LA) function and LA volume during exercise. This study aimed to identify distinguishing signs during exercise stress echocardiography (ESE) among patients in sinus rhythm (SR), with and without history of paroxysmal/persistent AF (PAF).

Methods: A prospective cohort of 1055 patients in SR was enrolled across 12 centers.

Evaluating AI-Generated informed consent documents in oral surgery: A comparative study of ChatGPT-4, Bard gemini advanced, and human-written consents.

This study evaluates the quality and readability of informed consent documents generated by AI platforms ChatGPT-4 and Bard Gemini Advanced compared to those written by a first-year oral surgery resident for common oral surgery procedures. The evaluation, conducted by 18 experienced oral and maxillofacial surgeons, assessed consents for accuracy, completeness, readability, and overall quality. ChatGPT-4 consistently outperformed both Bard and human-written consents.

Standard-of-Care Medication Withdrawal in Patients With Obstructive Hypertrophic Cardiomyopathy Receiving Aficamten in FOREST-HCM.

Background: Standard-of-care (SoC) medications for the treatment of obstructive hypertrophic cardiomyopathy (oHCM) are recommended as first-line therapy despite the lack of evidence from controlled clinical trials and well known off-target side effects.

Objectives: We describe the impact of SoC therapy downtitration and withdrawal in patients already receiving aficamten in FOREST-HCM (Follow-Up, Open-Label, Research Evaluation of Sustained Treatment with Aficamten in Hypertrophic Cardiomyopathy; NCT04848506).

Methods: Patients receiving SoC therapy (beta-blocker, nondihydropyridine calcium-channel blocker, and/or disopyramide) were eligible for protocol-guided SoC downtitration and withdrawal at the discretion of the investigator and after achieving a stable dose of aficamten for ≥4 weeks.

Cost-effectiveness of sodium zirconium cyclosilicate for the treatment of hyperkalemia in patients with chronic kidney disease or heart failure in Spain.

Background And Objective: Hyperkalemia (HK) is an electrolyte disturbance in the concentration of potassium ions (K), whose risk increases in patients with chronic kidney disease (CKD) or heart failure (HF) and/or in patients being treated with renin-angiotensin-aldosterone system inhibitors (RAASi). The new oral K chelators offer a safe and effective treatment to maintain normokalemia in these patients. The objective of the analysis is to estimate the cost-effectiveness of sodium zirconium cyclosilicate (SZC) for the treatment of chronic HK in patients with CKD or HF versus standard treatment (calcium polystyrene sulfonate and lifestyle modifications) from the perspective of the Spanish National Health System.

[Recommendations Not to do in rehabilitation and physical medicine: a compilation from different fields of intervention].

Introduction And Objective: Certain medical practices, both diagnostic and therapeutic, that have not been proven to be effective and do not add value to healthcare, are not uncommon. The aim of this document is to provide a list of «Not to do» recommendations in the medical specialty of Physical Medicine and Rehabilitation.

Material And Method: For the development of this project, which is coordinated by the Vocalía de Sociedades Filiales, Sociedades Autonómicas y Grupos de Trabajo de la Sociedad Española de Rehabilitación (SERMEF), specific recommendations are requested from Grupos de Trabajo and Sociedades Filiales of each specific field of Physical Medicine and Rehabilitation, as experts in the corresponding intervention areas.

Clinical Approach to STRIDE-II in Real-Life Settings: Analysis and Practical Recommendations.

Background: We aimed to (1) analyze the applicability of the updated Selecting Therapeutic Targets in Inflammatory Bowel Disease (STRIDE-II) recommendations in real-world clinical practice, (2) identify barriers to their implementation, and (3) propose practical measures to overcome these obstacles.

Methods: This qualitative study was based on a survey, a literature review, and expert opinions. Nine inflammatory bowel disease (IBD) experts identified 7 areas likely to be controversial or potential implementation barriers in daily clinical practice: endoscopy, histology, ultrasound, quality of life, biomarkers, symptom control, and patient-reported outcomes (PROs).

Management of heart disease in renal transplant recipients: a national Delphi survey-based SET/SEC/SEN consensus document.

Renal transplantation improves the survival and quality of life of patients with end-stage renal disease. Cardiovascular disease is the leading cause of morbidity and mortality in renal transplant recipients. The bidirectional relationship between renal and heart disease creates a unique clinical scenario that demands a comprehensive and personalized approach.