Influence of familial forms of inflammatory bowel disease on the use of immunosuppressants, biological agents, and surgery in the era of biological therapies. Results from the ENEIDA project.

Background And Aims: Familial inflammatory bowel disease (IBD) history is a controversial prognostic factor in IBD. We aimed to evaluate the impact of a familial history of IBD on the use of medical and surgical treatments in the biological era.

Methods: Patients included in the prospectively maintained ENEIDA database and diagnosed with IBD after 2005 were included.

Sex-Related Differences in the Phenotype and Course of Inflammatory Bowel Disease: SEXEII Study of ENEIDA.

Background & Aims: The impact of patient sex on the presentation of inflammatory bowel disease (IBD) has been poorly evaluated. Our aims were to assess potential disparities in IBD phenotype and progression between sexes.

Methods: We performed an observational multicenter study that included patients with Crohn's disease (CD) or ulcerative colitis from the Spanish Estudio Nacional en Enfermedad Inflamatoria intestinal sobre Determinantes genéticos y Ambientales registry.

Incidence and causes of hospitalization in patients with transthyretin (ATTR-CA) and light chain (AL-CA) cardiac amyloidosis.

Introduction And Objetives: Cardiac amyloidosis (CA) is a disorder associated with high number of hospital admissions. Given the scarce information available, we propose an analysis of the incidence and causes of hospitalization in this disease.

Material And Methods: One hundred and forty-three patients [128 by transthyretin (ATTR-CA) and 15 by light chains (AL-CA)] included in Registro de Amiloidosis Cardiaca de Galicia (AMIGAL) were evaluated, including all hospitalizations.

Significant increase of CTX-M-15-ST131 and emergence of CTX-M-27-ST131 Escherichia coli high-risk clones causing healthcare-associated bacteraemia of urinary origin in Spain (ITUBRAS-2 project).

Objectives: To assess the microbiological characteristics of Escherichia coli causing healthcare-associated bacteraemia of urinary origin (HCA-BUO) in Spain (ITUBRAS-2 project), with particular focus on ESBL producers and isolates belonging to ST131 high-risk clone (HiRC). Clinical characteristics and outcomes associated with ST131 infection were investigated.

Methods: A total of 222 E.

[Epidemiology of myasthenia gravis in the Iberian Peninsula and Latin America].

Introduction: Although today we live in a globalised world, the ties established between the Iberian Peninsula and the countries of Latin America are particularly strong, with important migratory flows. This connection may condition the development of diseases that involve a genetic influence, which may in turn be modulated by various environmental factors. The aim of this review is to determine the descriptive epidemiology of myasthenia gravis in the Iberian Peninsula and in Latin America.

Risk Factors for COVID-19 in Inflammatory Bowel Disease: A National, ENEIDA-Based Case-Control Study (COVID-19-EII).

(1) Scant information is available concerning the characteristics that may favour the acquisition of COVID-19 in patients with inflammatory bowel disease (IBD). Therefore, the aim of this study was to assess these differences between infected and noninfected patients with IBD. (2) This nationwide case−control study evaluated patients with inflammatory bowel disease with COVID-19 (cases) and without COVID-19 (controls) during the period March−July 2020 included in the ENEIDA of GETECCU.

Real-world data with afatinib in Spanish patients with treatment-naïve non-small-cell lung cancer harboring exon 19 deletions in epidermal growth factor receptor (Del19 EGFR): Clinical experience of the Galician Lung Cancer Group.

Background: In clinical studies, first-line afatinib demonstrated efficacy in Del19-EGFR NSCLC.

Materials And Methods: This prospective, non-interventional study assessed efficacy and safety of first-line afatinib in patients with advanced/metastatic NSCLC with Del19-EGFR from Galicia (Spain), with a preplanned analysis by age (<70 vs ≥70 years).

Results: Median age of 46 patients enrolled was 69.

Generalized implementation of reflex testing of hepatitis C in Galicia: Results for reflection.

Introduction: The implementation of reflex testing of active hepatitis C virus (HCV) infection, together with the incorporation of informative alerts in the reports, has shown that it significantly reduces the number of patients who were not referred for therapeutic evaluation.

Methods: Since the implementation in 2018 of the DUSP in the Microbiology Services of the Galician Health Service hospitals (SERGAS), new diagnoses of active HCV infection have been retrospectively identified and characterized.

Results: In 2018, a total of 258 patients with unknown active HCV infection (70,2% men, middle age 52 years) were identified through by reflex testing from consultations of primary and specialized care units in 54.

[Validation of a questionnaire for the analysis of digital competence in patients with type 1 diabetes mellitus].

Objective: Validation of a questionnaire designed to stratify the level of digital competence in chronic patients.

Method: Cross-sectional study, carried out in the Endocrinology and Nutrition Section of the Complejo Asistencial Universitario de León (CAULE). We selected the digital competencies section of the Cambados questionnaire, designed for the identification of digital chronic patient, with a maximum score of 20 points.

Nationwide COVID-19-EII Study: Incidence, Environmental Risk Factors and Long-Term Follow-Up of Patients with Inflammatory Bowel Disease and COVID-19 of the ENEIDA Registry.

We aim to describe the incidence and source of contagion of COVID-19 in patients with IBD, as well as the risk factors for a severe course and long-term sequelae. This is a prospective observational study of IBD and COVID-19 included in the ENEIDA registry (53,682 from 73 centres) between March-July 2020 followed-up for 12 months. Results were compared with data of the general population (National Centre of Epidemiology and Catalonia).

DNA Methylation Signature in Mononuclear Cells and Proinflammatory Cytokines May Define Molecular Subtypes in Sporadic Meniere Disease.

Meniere Disease (MD) is a multifactorial disorder of the inner ear characterized by vertigo attacks associated with sensorineural hearing loss and tinnitus with a significant heritability. Although MD has been associated with several genes, no epigenetic studies have been performed on MD. Here we performed whole-genome bisulfite sequencing in 14 MD patients and six healthy controls, with the aim of identifying an MD methylation signature and potential disease mechanisms.

Clinical and Cytokine Profile in Patients with Early and Late Onset Meniere Disease.

Background: Meniere disease (MD) is an inner ear disorder associated with comorbidities such as autoimmune diseases or migraine. This study describes clinical and cytokine profiles in MD according to the age of onset of the condition.

Methods: A cross-sectional study including 83 MD patients: 44 with early-onset MD (EOMD, <35 years old), and 39 with late-onset MD (LOMD, >50 years old), 64 patients with migraine and 55 controls was carried out.

Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.

The MYO7A gene encodes a motor protein with a key role in the organization of stereocilia in auditory and vestibular hair cells. Rare variants in the MYO7A (myosin VIIA) gene may cause autosomal dominant (AD) or autosomal recessive (AR) sensorineural hearing loss (SNHL) accompanied by vestibular dysfunction or retinitis pigmentosa (Usher syndrome type 1B). Familial Meniere's disease (MD) is a rare inner ear syndrome mainly characterized by low-frequency sensorineural hearing loss and episodic vertigo associated with tinnitus.

Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study.

Background: tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large heterogeneity in the phenotype.

Generalized implementation of reflex testing of hepatitis C in Galicia: Results for reflection.

Introduction: The implementation of reflex testing of active hepatitis C virus (HCV) infection, together with the incorporation of informative alerts in the reports, has shown that it significantly reduces the number of patients who were not referred for therapeutic evaluation.

Methods: Since the implementation in 2018 of the DUSP in the microbiology services of the Galician Health Service hospitals (SERGAS), new diagnoses of active HCV infection have been retrospectively identified and characterized.

Results: In 2018, a total of 258 patients with unknown active HCV infection (70,2% men, middle age 52 years) were identified through by reflex testing from consultations of primary and specialized care units in 54.

Perampanel effectiveness and safety as early add-on treatment for focal-onset seizures: PEREAGAL study.

Background: Perampanel (PER) is an effective adjunctive therapy for controlling focal-onset seizures (FOS), but few studies have examined its effects as an early add-on for the treatment of FOS in daily clinical practice.

Methods: Our retrospective, multicenter, observational study evaluated the effectiveness and safety of PER as an early add-on in 77 patients with FOS, with and without focal to bilateral tonic-clonic seizures (FBTCS) after 3, 6 and 12 months in a real-world setting.

Results: After 12 months of treatment (median dose 6 [4,8] mg/day), the retention rate was 79.

Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.

Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo, and tinnitus. Familial MD has been reported in 6 to 9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA3D, and DPT have been involved in single families, suggesting genetic heterogeneity. In this study, the authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD.

[Robotic and laparosocpic urological surgery during COVID-19 pandemia.].

Objective: SARS-CoV-2 pandemic hashigh repercussion on urologic minimally invasive surgery (MIS). Controversy about safety of MIS procedures during COVID-19 pandemic has been published. Nowadays, our priority should be create agreement in order to restart and organize MIS with safety conditions for patients and healthcare workers.