Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations.

Background: Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepatic encephalopathy (mHE) is characterized by alterations of brain function in neuropsychological or neurophysiological tests and decreases quality of life.

Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases.

Background: Patients with familial fibrotic interstitial lung disease (ILD) experience worse survival than patients with sporadic disease. Current guidelines do not consider family aggregation or genetic information in the diagnostic algorithm for idiopathic pulmonary fibrosis or other fibrotic ILDs. Better characterizing familial cases could help in diagnostic and treatment decision-making.

Real-World Clinical Effectiveness and Safety of Antifibrotics in Progressive Pulmonary Fibrosis Associated with Rheumatoid Arthritis.

: Interstitial lung disease (ILD) is one of the most severe complications of rheumatoid arthritis (RA). Real-world data on antifibrotic treatment are needed. Our objective was to evaluate the real-world effectiveness and tolerability of antifibrotic agents in patients with progressive fibrosing RA-ILD.

Prediagnostic Plasma Nutrimetabolomics and Prostate Cancer Risk: A Nested Case-Control Analysis Within the EPIC Study.

: Nutrimetabolomics may reveal novel insights into early metabolic alterations and the role of dietary exposures on prostate cancer (PCa) risk. We aimed to prospectively investigate the associations between plasma metabolite concentrations and PCa risk, including clinically relevant tumor subtypes. : We used a targeted and large-scale metabolomics approach to analyze plasma samples of 851 matched PCa case-control pairs from the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.

A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?

Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.

What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.

Long-term follow-up of hereditary hemorrhagic telangiectasia patients without significant pulmonary right-to-left shunt at screening.

Objectives: To describe the incidence of pulmonary arteriovenous malformations (PAVM)-related complications, right-to-left shunt (RLS) progression at transthoracic contrast echocardiography (TTCE) and development of treatable PAVM during long-term follow-up in hereditary hemorrhagic telangiectasia (HHT) patients with RLS grades 0-1 at screening TTCE.

Methods: Observational prospective study including adult HHT patients with grades 0-1 RLS at screening TTCE. Those requiring previous embolization of PAVM were excluded.

Dopamine dynamics in chronic pain: music-induced, sex-dependent, behavioral effects in mice.

Introduction: Chronic pain is a debilitating disease that is usually comorbid to anxiety and depression. Current treatment approaches mainly rely on analgesics but often neglect emotional aspects. Nonpharmacological interventions, such as listening to music, have been incorporated into clinics to provide a more comprehensive management of chronic pain.

Understanding the health system drivers of delayed cancer diagnosis in public healthcare networks of Chile, Colombia and Ecuador: A qualitative study with health professionals, managers and policymakers.

Although the greatest delays in cancer diagnosis in Latin America occur in the provider interval little is known about the related factors. This study aims to analyze factors influencing access to cancer diagnosis -from initial contact with health services to confirmation- from institutional stakeholders' perspective in public healthcare networks of Chile, Colombia, and Ecuador. A qualitative, descriptive-interpretative study was conducted in two networks per country, using semi-structured individual interviews (n = 118; 23 to 58, per country) with a criterion sample of health professionals and administrative personnel from primary care (PC) (n = 41) and secondary/tertiary care hospitals (n = 47), network managers and policymakers (n = 30).

COVID-19 clinical phenotypes in vaccinated and nonvaccinated solid organ transplant recipients: a multicenter validation study.

Clinical phenotypes of COVID-19, associated with mortality risk, have been identified in the general population. The present study assesses their applicability in solid organ transplant recipients (SOTR) hospital-admitted by COVID-19. In a cohort of 488 SOTR, nonvaccinated (n = 394) and vaccinated (n = 94) against SARS-CoV-2, we evaluated 16 demographic, clinical, analytical, and radiological variables to identify the clinical phenotypes A, B, and C.

Comparative accuracy of dCAIS and freehand techniques for immediate implant placement in the maxillary aesthetic zone: An in vitro study.

Objective: To evaluate the accuracy of immediate implant placement in fresh extraction sockets in the maxillary aesthetic zone using a dynamic computer-assisted implant surgery system (dCAIS), with the evaluation of possible deviations versus freehand placement.

Methods: A total of 18 implants were placed by an experienced surgeon in fresh extraction sockets of anterior teeth in 6 maxillary models. Nine implants were placed using the dCAIS system and 9 implants were placed using the conventional freehand technique.

Clinical, Histological, and HPV-Related Factors Associated to Diffuse Presentation of Exophytic Nasal Papillomas.

: Sinonasal exophytic papillomas (SNEP) are benign tumours arising from nasal mucosa. Human papillomavirus (HPV) infection seems to be related to the aetiology of a fraction of SNEP cases. SNEP presentation can be focal (FSNEP) or diffuse (DSNEP), but factors related to focal or diffuse presentation have not yet been well ascertained.

Challenges in the Management of Infectious Complications in Neutropenic Cancer Patients.

Febrile neutropenia is a very common complication in cancer patients, especially in hematologic patients and hematopoietic stem cell transplant (HSCT) recipients, and is associated with increased morbidity and mortality [...

Improved Masticatory Performance in the Partially Edentulous Rehabilitated with Conventional Dental Prostheses.

: Oral rehabilitation seeks to enhance mastication, a vital component of oral function that is compromised by tooth loss. This study aimed to assess the degree of improvement of masticatory performance in partially edentulous patients rehabilitated with removable partial dentures (RPD) or fixed partial dental prosthesis (FPDP). Changes in the occlusal contact area (OCA) and satisfaction with their chewing ability during the adaptation period were also evaluated.

Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis.

Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow for the early identification of relatives at risk; however, it requires an accurate interpretation of the data to achieve a clinically actionable outcome. This is particularly challenging for the large number of rare variants obtained by current high-throughput techniques, which are mostly classified as of unknown significance.

Sustained Drug-Free Remission in Giant Cell Arteritis.

Objetive: To evaluate the frequency and timing of sustained drug-free remission (SDFR) in patients with giant cell arteritis (GCA) and to identify potential predictive factors of this outcome.

Methods: Retrospective review of all patients included in the large Spanish multicentre registry for GCA (ARTESER) with at least two years of follow-up. SDFR was defined as the absence of typical signs, symptoms, or other features of active GCA for ≥12 months after discontinuation of treatment.

PERSISTENCE, EFFECTIVENESS, AND SAFETY OF UPADACITINIB IN CROHN'S DISEASE AND ULCERATIVE COLITIS IN REAL LIFE: RESULTS FROM A SPANISH NATIONWIDE STUDY (UREAL STUDY): Upadacitinib for IBD.

Background: Real-world data on the effectiveness of upadacitinib for inflammatory bowel disease (IBD) are limited.

Aims: To assess upadacitinib persistence, effectiveness, and safety in a real-world scenario.

Methods: Retrospective multicentre study of IBD patients who received upadacitinib before 31st December 2022 and at least 12 weeks before the recruitment date.

Body mass index at birth and early life and colorectal cancer: A two-sample Mendelian randomization analysis in European and East Asian genetic similarity populations.

Background: Varying obesogenic inherited predisposition in early to later life may differentially impact colorectal cancer (CRC) development. Previous Mendelian randomization (MR) studies, conducted in populations of European genetic similarity, have not observed any significant associations between early life body weight with CRC risk. However, it remains unclear whether body mass index (BMI) at different early lifetime points is causally related with CRC risk in both Europeans and East Asian populations.

Prostate cancer risk biomarkers from large cohort and prospective metabolomics studies: A systematic review.

Prostate cancer (PCa) is one of the leading causes of cancer-related deaths among men. The heterogeneous nature of this disease presents challenges in its diagnosis, prognosis, and treatment. Numerous potential predictive, diagnostic, prognostic, and risk assessment biomarkers have been proposed through various population studies.