Reengagement strategies for hepatitis C patients lost to follow-up: A randomized clinical trial.

Background And Aims: To achieve the World Health Organization's goal of eliminating HCV by 2030, reengagement of lost to follow-up cases is mandatory. However, there is lack of evidence concerning the best strategy. Our study evaluated the effectiveness, efficiency, predictive factors, and costs of 2 different strategies.

Chronic intermittent hypoxia promotes early intrahepatic endothelial impairment in rats with nonalcoholic fatty liver disease.

Nonalcoholic fatty liver disease (NAFLD) is a progressive disease that ranges from simple steatosis to cirrhosis. Obstructive sleep apnea syndrome (OSAS) and chronic intermittent hypoxia (CIH) are implicated in the pathogenesis of NAFLD. However, the overlapping consequences of CIH on liver sinusoidal endothelial function over time in NAFLD are largely unknown.

A slowdown of hepatitis C diagnosis in high-prevalence groups and with decentralized diagnostic strategies during the COVID-19 pandemic.

Introduction: the COVID-19 pandemic has had a major impact on hepatitis C virus (HCV) diagnosis by hindering the path to elimination. Albeit, in an uneven manner, depending on the risk group and diagnostic strategy.

Methods: the requests of antibodies/RNA by venipuncture at hospitals and Primary Care centers (centralized) and via venipuncture or dried blood spot tests at prison and drug treatment centers referred for central processing (integrated decentralized) were recorded for one year, before and after the onset of the COVID-19 health crisis.

Telemedicine and decentralized hepatitis C treatment as a strategy to enhance retention in care among people attending drug treatment centres.

Background: People attending drug treatment centres have a high burden of hepatitis C virus (HCV) and face barriers to diagnosis and treatment. Dried blood spot (DBS) testing has been proposed to simplify diagnosis, but many patients remain untreated. In this retrospective study, we evaluated the reasons for non-retention in care in an intervention using on-site DBS testing and the effect of telemedicine and decentralized care compared to standard of care among people attending drug treatment centres who were lost to follow-up.

Mutations in cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Objective: Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in and the development of HCM.

Sexual behaviour and poor hygiene are related to recent hepatitis a virus community outbreaks.

Objectives: there has been a global increase in the incidence of hepatitis A infection. The aim of this study was to examine the characteristics of the increase in our region and the degree of adherence to the recommended hygienic measures after discharge from hospital.

Methods: demographic, clinical and biochemical variables were collected from patients with acute hepatitis A in our health area.

Diagnostic test accuracy of the cobas 6800 system for detection of hepatitis c virus viraemia levels from dried blood spots.

Introduction: Because hepatitis C virus (HCV) infection is curable in the majority of cases, the diagnosis of all infected patients has become a priority. In difficult-to-diagnose populations, simpler diagnostic methods are required such as the use of dried blood spots (DBS) as an alternative to blood drawn by venipuncture (VP). Before being able to include it as a HCV diagnostic detection method within the Spanish National Health System, the diagnostic accuracy of standard hospital equipment must be evaluated.

Hepatitis C virus media coverage favorably impacts on antibody testing in the non-interferon era.

Background: In the non-interferon era, many patients still remain untested for hepatitis C virus (HCV) infection. Our aim was to determine if media coverage, number and type of news, can influence the rate of HCV testing.

Methods: For each calendar year we searched from national, regional and local newspapers for articles published related to HCV between 2001 and 2013 (interferon era) and 2014-2018 (non-interferon era) and the HCV tests performed.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic.

Risk of liver fibrosis progression in patients with suboptimal diagnosis of hepatitis C virus infection.

Objective: Many hepatitis C virus (HCV)-infected patients have a suboptimal diagnosis. Particularly, the characteristics and risk of fibrosis progression of HCV antibody-positive patients without RNA testing are unknown.

Methods: Patients with a positive HCV antibody performed during 2005-2007 were classified based on RNA request and result until January 2017.

Patients with suboptimal hepatitis B virus diagnostic characterization are at risk of liver fibrosis progression.

Background: Many patients with chronic hepatitis B virus infection remain infradiagnosed and untreated. In a national health system with unrestricted access to treatment, our aims were to assess the level of compliance with clinical guidelines and the characteristics and risk of fibrosis progression in patients with suboptimal diagnosis.

Methods: In a cohort of patients with positive hepatitis B surface antigen from January 2011 to December 2013, data were registered to assess characteristics and compliance with guidelines.

Predictive factors for not undergoing RNA testing in patients found to have hepatitis C serology and impact of an automatic alert.

The process of diagnosis and linkage to care in cases of hepatitis C virus (HCV) infection remains an obstacle to disease control. The aims of this study were to evaluate predictive factors for not undergoing RNA testing among patients with positive HCV serology and impact of incorporating an automated electronic alert with recommendations in clinical practice. We collected HCV antibody tests requested from October 2011 to September 2014 to evaluate the rate of RNA testing and predictive factors for not undergoing RNA testing.

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy). A total of 1765 European patients were analyzed with a homemade algorithm for the assessment of CNVs using high-throughput sequencing data.

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. In this work, detailed familiar, clinical and genetic data were collected for 13 KCNQ2-positive patients revealed among a cohort of 80 epileptic pediatric probands from Spain who were analyzed through a targeted next-generation sequencing assay for 155 epilepsy-associated genes.

Contribution of Cyclooxygenase End Products and Oxidative Stress to Intrahepatic Endothelial Dysfunction in Early Non-Alcoholic Fatty Liver Disease.

Introduction: Metabolic syndrome induces endothelial dysfunction, a surrogate marker of cardiovascular disease. In parallel, metabolic syndrome is frequently associated with non-alcoholic fatty liver disease (NAFLD), which may progress to cirrhosis. The aim of the present study was to evaluate intrahepatic endothelial dysfunction related to cyclooxygenase end products and oxidative stress as possible mechanisms involved in the pathophysiology of NAFLD.