Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected LS patients and their relatives to identify the germline causative alteration to provide intensified surveillance to those at risk and allow early diagnosis and cancer prevention.

Real-World Experience in Tricuspid Transcatheter Edge-to-Edge Repair: Transcatheter Tricuspid Valve Repair in Spain Registry.

Background: Significant tricuspid regurgitation (TR) is associated with increased morbidity and mortality. The development of transcatheter valve repair therapies has opened a wide range of opportunities for treatment of patients with high surgical risk. Real-world data might improve patient selection and outcome.

Audiovisual analysis of the diagnostic video polysomnography in patients with isolated REM sleep behavior disorder.

Background: The diagnosis of isolated REM sleep behavior disorder (IRBD) requires video polysomnography (V-PSG) showing increased muscle activity and abnormal behaviors in REM sleep.

Objective: To describe in IRBD the behavioral manifestations occurring during REM sleep in the diagnostic V-PSG.

Methods: This is a systematic audiovisual V-PSG analysis of consecutive IRBD patients.

Epidemiologic and clinical characteristics and course of acute heart failure and cardiogenic shock diagnosed in emergency departments.

Objective: To describe the characteristics of patients diagnosed with acute heart failure (AHF) in emergency departments (EDs) who develop cardiogenic shock (CS) not associated with ST-segment elevation acute coronary syndrome (STACS).

Methods: Information for patients diagnosed with AHF in 23 Spanish EDs and registered between 2009 and 2019 were included for analysis if the patients developed symptoms consistent with CS. We described baseline clinical characteristics related to cardiac decompensation and CS, as well as 30-day mortality.

Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow-up of vacuolization and UBA1 clonal dynamics.

VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized by cytoplasmic vacuoles in myeloid and erythroid precursor cells. Although there is currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom management, with only partial effectiveness. Hypomethylating agents (HMA) have shown promise in VEXAS patients with concomitant myelodysplastic syndrome (MDS), while the efficacy of HMA in VEXAS patients without MDS is largely unknown.

Acral melanoma in the Caucasian population: a comprehensive cohort study on epidemiological, clinicopathological, and prognostic features.

Background: Acral melanoma is associated with poor prognosis. Studying the characteristics and prognosis of Caucasian patients is crucial to understand the distinct features of this tumor.

Objectives: To analyze the epidemiological, clinicopathological, and prognostic features of acral melanoma in Caucasian patients.

Transcatheter Caval Implantation for Severe Tricuspid Regurgitation.

Purpose Of Review: We describe the evolution of caval valve implantation (CAVI) as a treatment for severe symptomatic tricuspid regurgitation (TR) in the high surgical risk patient.

Recent Findings: Surgical treatment of severe TR is often limited by the high surgical risk of the patients who tend to develop severe secondary TR. Coaptation, annuloplasty, and orthotopic replacement strategies are all limited by annular and leaflet geometry, prior valve repair, and the presence of cardiac implantable device leads.

At-Home Care Program for Acute Myeloid Leukemia Induction Phase in Patients Treated with Venetoclax-Based Low-Intensity Regimens.

Even though venetoclax in combination with azacitidine (VenAza) is considered a low-intensity regimen, its patients present a high incidence of cytopenia and infections during the first courses, making the initial management a challenging phase. This difficulty in our center led to the establishment of an At-Home (AH) program for ramp-up and follow-up patients during the VenAza combination induction phase focused on therapy administration, patient and caregiver education, and management of adverse events (AEs). A total of 70 patients with newly diagnosed acute myeloid leukemia (ND-AML) or relapsed/refractory AML (R/R AML) were treated with VenAza from March 2019 to May 2022.

Disseminated Histoplasmosis With Lung and Liver Involvement in an Immunocompetent Patient.

Histoplasmosis, caused by the fungus , is a significant public health concern in endemic regions like Mexico. Immunocompromised individuals, especially those with HIV infection and those exposed to nitrogen-rich environments, such as bird excrement or bat guano, are particularly vulnerable. This case report describes a middle-aged patient with jaundice in the skin and mucous membranes.

Rheumatologic complications of CAR-T Cell therapy. Experience of a single center.

Introduction: Chimeric Antigen Receptor T-cell (CAR-T) therapy has emerged as a promising treatment for hematological malignancies. However, its association with immune-related complications such as rheumatic complications, is not well defined.

Methods: We conducted a retrospective study to analyze rheumatic complications in 310 patients treated with CAR-T therapy at a single center from January 2020 to May 2024.

Therapeutic hypothermia in preterm infants under 36 weeks: Case series on outcomes and brain MRI findings.

Purpose: Perinatal hypoxic-ischemic encephalopathy (HIE) is a significant cause of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term neonates, but its safety and efficacy in neonates < 36 weeks gestational age (GA) remains unclear. This case series aimed to evaluate the outcomes of preterm infants with HIE treated with TH.

More Than the Sum of Its Parts: Disrupted Core Periphery of Multiplex Brain Networks in Multiple Sclerosis.

Disruptions to brain networks, measured using structural (sMRI), diffusion (dMRI), or functional (fMRI) MRI, have been shown in people with multiple sclerosis (PwMS), highlighting the relevance of regions in the core of the connectome but yielding mixed results depending on the studied connectivity domain. Using a multilayer network approach, we integrated these three modalities to portray an enriched representation of the brain's core-periphery organization and explore its alterations in PwMS. In this retrospective cross-sectional study, we selected PwMS and healthy controls with complete multimodal brain MRI acquisitions from 13 European centers within the MAGNIMS network.

Dynamics of thrombin generation: Filling the gap between the system pharmacology theory and clinical practice in clinical pharmacology and therapeutics.

Mathematical models of thrombin generation (TG) that have been developed are based on a systems biology approach. Although this approach provides important information about the coagulation system, its clinical applicability is limited by its complexity and number of input variables required. The aim of this study was to develop a semimechanistic model able to describe TG in trauma and control patients.

Conservation of structural brain connectivity in people with multiple sclerosis.

Multiple sclerosis (MS) is a neurodegenerative disease that affects the central nervous system. Structures affected in MS include the corpus callosum, connecting the hemispheres. Studies have shown that in mammalian brains, structural connectivity is organized according to a conservation principle, an inverse relationship between intra- and interhemispheric connectivity.

Survival Outcomes in Sinonasal Mucosal Melanoma: Systematic Review and Meta-Analysis.

: Sinonasal mucosal melanomas (SNMMs) are rare and aggressive malignancies with poor survival outcomes. Our systematic review and meta-analysis aim to evaluate overall survival (OS) rates in patients with SNMM; : We conducted a systematic search, following PRISMA guidelines across PubMed, Web of Science (WOS), and citation searching for studies reporting survival and prognosis outcomes for SNMMs. Inclusion criteria included studies with 5-year OS rates.

Transcatheter aortic valve replacement in aortic stenosis patients with New York Heart Association functional class III or IV.

Background: Patients with symptomatic aortic stenosis are a vulnerable population with associated cardiac damage and a significant comorbidity burden. This study aimed to determine the rate, factors associated with, and prognostic value of poor functional status (NYHA class III-IV) in patients with severe aortic stenosis undergoing transcatheter aortic valve replacement (TAVR).

Methods: This multicenter study included 6,363 transarterial TAVR patients, classified according to baseline functional status (NYHA class I-II vs.

Randomized trial investigating the utility of a liver tissue transcriptional biomarker in identifying adult liver transplant recipients not requiring maintenance immunosuppression.

The maintenance of stable allograft status in the absence of immunosuppression (IS), known as operational tolerance, can be achieved in a small proportion of liver transplant recipients, but we lack reliable tools to predict its spontaneous development. We conducted a prospective, multicenter, biomarker-strategy design, IS withdrawal clinical trial to determine the utility of a predictive biomarker of operational tolerance. The biomarker test, originally identified in a patient cohort with high operational tolerance prevalence, consisted of a 5-gene transcriptional signature measured in liver tissue collected before initiating IS weaning.

Gel nail polish does not have a negative impact on the nail bacterial burden nor on the quality of hand hygiene with an alcohol-based hand rub.

Background: We evaluated the microbial burden on gel polished nails (GPN), standard polished nails (SPN) and unpolished nails (UPN) before and after an alcohol-based hand rub (HHAB).

Methods: Three GPN, two SPN and five UPN in both hands were analyzed in 46 health-care workers volunteers. Nail length was maintained ≤2mm during the study.

Effects of alcohol-related problems on the costs of frequent emergency department use: an economic analysis of a case-control study in Spain.

Introduction: Alcohol-related problems increase the probability of frequent emergency department (ED) use. In this study, we compared the direct healthcare expenses incurred during a single visit among frequent and non-frequent ED users and analyzed the impact of alcohol-related issues in healthcare costs arising from ED usage.

Methods: The study relied on secondary analyses of economic data from a 1:1 matched case-control study with the primary aim of identifying the clinical characteristics of hospital ED frequent users in a Mediterranean European environment with a public, universal, and tax-funded health system.

Alterations of the IKZF1-IKZF2 tandem in immune cells of schizophrenia patients regulate associated phenotypes.

Schizophrenia is a complex multifactorial disorder and increasing evidence suggests the involvement of immune dysregulations in its pathogenesis. We observed that IKZF1 and IKZF2, classic immune-related transcription factors (TFs), were both downregulated in patients' peripheral blood mononuclear cells (PBMCs) but not in their brain. We generated a new mutant mouse model with a reduction in Ikzf1 and Ikzf2 to study the impact of those changes.

cfDNA fragmentation patterns correlate with tumor burden measured via PSMA PET/CT volumetric parameters in patients with biochemical recurrence of prostate cancer.

Background: Prostate cancer recurrence following primary treatment poses a significant clinical challenge, particularly when detected through biochemical recurrence at low PSA levels. Conventional imaging modalities often fail to localize the disease at this early stage. PSMA PET has demonstrated superior sensitivity in detecting recurrent lesions, even in patients with low PSA.