Cas9-targeted-based long-read sequencing for genetic screening of locus.

Introduction: Long-read sequencing (LRS) enables accurate structural variant detection and variant phasing. When a molecular diagnosis is suspected, target enrichment can reduce the cost and duration of sequencing.

Methods: LRS was conducted in five inherited retinal dystrophy (IRD) patients harboring a monoallelic variant in that remained uncharacterized after clinical exome sequencing (CES).

International Multicenter Retrospective Study From the Ultra-rare Sarcoma Working Group on Low-grade Fibromyxoid Sarcoma, Sclerosing Epithelioid Fibrosarcoma, and Hybrid Forms: Outcome of Primary Localized Disease.

The aim of the study was to report the outcome of primary localized low-grade fibromyxoid sarcoma (LGFMS), sclerosing epithelioid fibrosarcoma (SEF), and hybrid LGFMS/SEF (H-LGFMS/SEF). Patients with primary localized LGFMS, SEF, or H-LGFMS/SEF, surgically treated with curative intent from January 2000 to September 2022, were enrolled from 14 countries and 27 institutions. Pathologic inclusion criteria were predefined by expert pathologists.

Neuroendocrine neoplasms of head and neck, genitourinary and gynaecological systems, unknown primaries, parathyroid carcinomas and intrathyroid thymic neoplasms: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up.

• This Clinical Practice Guideline provides key recommendations for managing rare endocrine tumours. • Neuroendocrine neoplasms of different origins, parathyroid carcinoma and intrathyroid thymic neoplasms are included. • The guideline covers clinical imaging and pathological diagnosis, staging and risk assessment, treatment and follow-up.

The Lamella Ostium Extent Mucosa (LOEM) system: a new classification for endoscopic sinus surgery.

In the last decades, various types of endoscopic sinus surgery (ESS) have emerged as treatments for chronic rhinosinusitis (CRS), particularly with the development of personalized, endotype-driven approaches targeting mucosal inflammation and remodeling (1). Despite these advancements, the literature reports heterogeneous and often divergent outcomes, leaving the actual benefit of more extensive surgical approaches in CRS control a matter of ongoing debate (2,3). This discrepancy stems from inconsistent definitions of surgical techniques, leading to variations in osseous and mucosal resections depending on patient phenotype, disease severity and surgeon preference (4).

A Protocol for the Isolation of Oval Cells without Preconditioning.

Oval cells (OCs) is the name of hepatic progenitor cells (HPCs) in rodents. They are a small population of cells in the liver with the remarkable ability to proliferate and regenerate hepatocytes and cholangiocytes in response to acute liver damage. Isolating OCs generally requires a pretreatment with special diets, chemicals, and/or surgery to induce hepatic damage and OC proliferation in mice.

How much does an MRI change over a period of up to 2 years in patients with chronic low back pain? Is a repeated MRI really necessary in the follow-up of patients with chronic low back pain?

Purpose: Clinical practices vary between healthcare providers when it comes to asking for a Magnetic Resonance Imaging (MRI) during follow-up for chronic low-back pain (LBP). The association between progressive changes on the MRI and the clinical relevance of these findings is not clearly defined. The objective of our study is to investigate to what extent do MRI findings change during a period less than or equal to two years in patients with chronic LBP.

Hospital admissions for pyoderma gangrenosum in Spain (1999-2021): Epidemiological and clinical characteristics, temporal trends, and factors associated with poor prognosis and higher cost.

Background And Aims: Pyoderma gangrenosum (PG) is a neutrophilic inflammatory dermatosis that can be idiopathic or associated with other diseases. The aim was to analyze the epidemiological and clinical characteristics, temporal trends, risk factors for poor prognosis, and admission costs associated with PG in Spain.

Methods: We conducted a retrospective study, based on the Hospital Discharge Registry of the Spanish National Health System in Spain from 1999 to 2021.

Feasibility and Impact on Diagnosis of Peripheral Pulmonary Lesions under Real-Time Direct Vision by Iriscope®.

Introduction: Interventional pneumology plays a crucial role in the diagnosis of peripheral pulmonary lesions (PPLs), offering a minimally invasive approach with a low risk of complications. Iriscope® is a novel device that provides a direct and real-time image of PPLs. The objective of this study was to demonstrate the feasibility and impact of Iriscope® in diagnosing PPLs by analyzing its ability to directly visualize lesions and support accurate sampling during radial probe endobronchial ultrasound (rEBUS) and electromagnetic navigation bronchoscopy (ENB) combined with rEBUS.

Influence of Subclinical Atherosclerosis Burden and Progression on Mortality.

Background: Atherosclerosis is a dynamic process. There is little evidence regarding whether quantification of atherosclerosis extent and progression, particularly in the carotid artery, in asymptomatic individuals predicts all-cause mortality.

Objectives: This study sought to evaluate the independent predictive value (beyond cardiovascular risk factors) of subclinical atherosclerosis burden and progression and all-cause mortality.

Phase Ib Study for the Combination of Doxorubicin, Dacarbazine, and Nivolumab as the Upfront Treatment in Patients With Advanced Leiomyosarcoma: A Study by the Spanish Sarcoma Group (GEIS).

Purpose: Doxorubicin, alongside a select group of cytotoxic agents, is capable of inducing an adaptive immune response via a well-established peculiar type of tumor cell death called immunogenic cell death (ICD). We hypothesize that combining doxorubicin and dacarbazine with nivolumab may enhance therapeutic efficacy by exerting synergy in the ICD circuit. We hereby present a phase Ib trial with this combination.

Media Health Literacy in Spanish Nursing Students: A Multicenter Cross-Sectional Study.

Background: Amidst current misinformation, media literacy is an essential competency for nursing professionals. This study aimed to analyze the level of media health literacy among Spanish undergraduate nursing students, stratifying the results by gender, region, and other associated factors.

Methods: A cross-sectional study was conducted at five Spanish universities (N = 416) using the Spanish version of the Media Health Literacy (MeHLit-SV) Questionnaire.

The Key Features of a Genetic Nondiscrimination Policy: A Delphi Consensus Statement.

Importance: Governments worldwide have become increasingly cognizant of the spread of genetic discrimination (negative treatment or harm on the basis of actual or presumed genetic characteristics). Despite efforts by a number of governments to establish regulations addressing this phenomenon, public concern about genetic discrimination persists.

Objective: To identify key elements of an optimal genetic nondiscrimination policy and inform policymakers as they seek to allay genetic nondiscrimination and related public anxieties.

Subclinical atherosclerosis and brain health in midlife: Rationale and design of the PESA-Brain study.

Rationale: Cognitive decline and dementia have been reportedly linked to atherosclerosis, the main cause of cardiovascular disease. Cohort studies identifying early brain alterations associated with subclinical atherosclerosis are warranted to understand the potential of prevention strategies before cerebral damage becomes symptomatic and irreversible.

Methods & Design: The Progression of Early Subclinical Atherosclerosis (PESA) study is a longitudinal observational cohort study that recruited 4,184 asymptomatic middle-aged individuals (40-54 years) in 2010 in Madrid (Spain) to thoroughly characterize subclinical atherosclerosis development over time.

Exploration of Mental Health Elements in Chemsex Behavior: Interventions, Influencing Factors, and Attitudes towards Risk and Harm Reduction in Spain.

Unlabelled: In recent years, there has been an increase in the practice of chemsex, which is becoming an increasingly serious public health problem. The complex interaction between chemsex and mental health underscores the need to understand the psychological, social, and environmental factors that influence this practice.

Methods: A qualitative descriptive phenomenological study was conducted in the community of Madrid, Spain to explore the depth of the chemsex phenomenon through a thematic analysis.

Urinary extracellular vesicles as a monitoring tool for renal damage in patients not meeting criteria for chronic kidney disease.

Background: Current definition of chronic kidney disease (CKD) identifies only advanced stages, but effective management demands early detection. Urinary albumin-to-creatinine ratio (ACR) 30 mg/g is a cut-off point for CKD clinical diagnosis. Patients with lower values (normoalbuminuria) and eGFR > 60 mL/min/1.

Predictive and Dynamic Signature for Antiangiogenics in Combination with a PD1 Inhibitor in Soft-Tissue Sarcoma: Correlative Studies Linked to the IMMUNOSARC Trial.

Purpose: The IMMUNOSARC trial combined an antiangiogenic agent (sunitinib) with a PD1 inhibitor (nivolumab) in advanced sarcomas. Here, we present the first correlative studies of the soft-tissue sarcoma cohort enrolled in this trial.

Experimental Design: Formalin-fixed paraffin-embedded and peripheral blood samples were collected at baseline and week 13.