Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.

Introduction And Objectives: In recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to the p.Val142Ile variant have been described in patients without African ancestry. The aim of this study was to analyze the impact of ATTRv caused by p.

Higher Mortality Risk From Ovarian Carcinomas, Small Bowel Neoplasms, and B-Cell and Mucosa-Associated Lymphoid Tissue Lymphomas in Sjögren Syndrome Patients.

Objective: To evaluate the impact of the different types of neoplasms and lineages on Sjögren syndrome (SjS) patient mortality.

Methods: Medical records review study based on the Spanish Hospital Discharge Database and the International Classification of Diseases, Tenth Revision, Clinical Modification coding list. The neoplasm-related deaths in SjS patients with the general population during the period 2016-2019 were compared.

Prolonged Preservation of up to 24h at 10°C does not Impact Outcomes after Lung Transplantation.

Objective: To determine the impact of prolonged storage of donor lungs at 10°C of up to 24h on outcome after lung transplantation.

Background: An increasing body of evidence suggests 10°C as the optimal storage temperature for donor lungs. A recent study showed that cold ischemic times can be safely expanded to >12h when lungs are stored at 10°C.

Recombinant Klotho administration after myocardial infarction reduces ischaemic injury and arrhythmias by blocking intracellular calcium mishandling and CaMKII activation.

Ischaemic heart disease (IHD) remains a major cause of death and morbidity. Klotho is a well-known anti-ageing factor with relevant cardioprotective actions, at least when renal dysfunction is present, but its actions are much less known when renal function is preserved. This study investigated Klotho as a biomarker and potential novel treatment of IHD-associated complications after myocardial infarction (MI) under preserved renal function.

Transthyretin amyloid cardiomyopathy: a paradigm for advancing precision medicine.

Development of specific therapies addressing the underlying diseases' mechanisms constitutes the basis of precision medicine. Transthyretin cardiac amyloidosis (ATTR-CM) is an exemplar of precise therapeutic approach in the field of heart failure and cardiomyopathies. A better understanding of the underlying pathophysiology, more precise data of its epidemiology, and advances in imaging techniques that allow non-invasive diagnosis have fostered the development of new and very effective specific therapies for ATTR-CM.

Disease activity in patients with idiopathic inflammatory myopathy according to time since diagnosis and positivity to antisynthetase autoantibodies: data from the Myo-Spain registry.

Objective: To evaluate the main outcomes of disease activity and their association with other measures of activity, damage, and quality of life in patients with idiopathic inflammatory myopathy (IIM) according to time since diagnosis and positivity to antisynthetase autoantibodies (ASAs).

Methods: Cross-sectional multicenter study within the Spanish Myo-Spain registry. Cases were classified as incident (≤ 12 months since diagnosis) and prevalent.

A paired study comparing mononuclear cell collection using a new in-line system with an off-line extracorporeal photopheresis apheresis system.

Background: Extracorporeal photopheresis (ECP) product characteristics are not well established. The aim of this study was to compare mononuclear cells (MNCs) collection using the new Amicus blue (AB) In-line ECP system to our standard Off-line ECP system using the Optia apheresis device and the MacoGenic G2 inactivation system (OM).

Study Design And Methods: We assessed the ECP products and procedure parameters, patient characteristics, and adverse events for both AB and OM systems in paired patients.

Evaluation Checklist for the Multidisciplinary Approach to Patients with Asthma or Suspected Asthma in United Airway Disease.

Purpose: To generate an evaluation checklist for the multidisciplinary approach to patients with asthma or suspected asthma.

Patients And Methods: This was a qualitative study based on a literature review and expert opinions. A multidisciplinary steering committee with knowledge and experience in asthma and chronic rhinosinusitis with nasal polyps (CRSwNP) was established and comprised two pneumologists, two allergologists, and two otorhinolaryngologists.

Treatment patterns and outcomes in secondary acute myeloid leukemia arising after hypomethylating agents: PETHEMA registry study.

Background: Patients with secondary acute myeloid leukemia who previously received hypomethylating agents for prior myeloid neoplasms (HMA-sAML) face a dismal prognosis.

Methods: The authors analyze the characteristics, therapeutic approaches, and outcomes of patients with HMA-sAML from the Programa Español para el Tratamiento de Hemopatías Malignas (PETHEMA) registry.

Results: A total of 479 patients were included, mostly from prior myelodysplastic syndrome (84%).

Cutaneous ultrasound in the diagnosis and assessment of inflammatory activity in tinea capitis.

Introduction: Although the diagnosis of tinea capitis is mainly microbiological, the risk of evolution towards cicatricial alopecia in the most severe cases requires empirical treatment based on physical examination and complementary examinations.

Methods: Two patients were evaluated by physical examination, cutaneous ultrasound and microbiological examination.

Results: Ultrasound showed follicular widening and increased vascularization in Doppler mode.

Sellar and perisellar meningiomas: effects on pituitary function in a Spanish cohort observational study.

Purpose: Studies focused on the effects of sellar and/or perisellar (S/PS) meningiomas on pituitary function are scarce. The primary objective of the present study was to determinate the effects that S/PS meningiomas and their treatments have on pituitary function. Also, we described the clinical characteristics and therapeutic outcomes of the cohort of adult Spanish patients.

Metabolomic Changes Associated With the Change in HVPG After DAAs Therapy in HCV Cirrhotic Patients.

Background And Aims: In response to direct-acting antivirals (DAAs) therapy, patients who experience a decrease in hepatic venous pressure gradient (HVPG) considerably reduce liver complications and have increased survival. This study aimed to assess the metabolomic changes associated with the changes in HVPG from the start of DAA therapy until 48 weeks after effective DAA therapy in patients with advanced HCV-related cirrhosis.

Methods: We carried out a multicenter longitudinal study in 31 patients with advanced hepatitis C virus (HCV)-related cirrhosis.

Comments on EFSUMB recommendations, role of ultrasound in cutaneous neoplasms.

The European Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB) has been publishing guidelines, position papers and also technical reviews. In addition, comments have been published for illustration of such papers including the hepatobiliary system, pancreas, lung and other organs. In the current paper, we aim to summarize the typical sonographic findings of the most commonly seen cutaneous neoplasms.

Endoscopic sleeve gastroplasty plus lifestyle intervention in patients with MASH: a multicentre, sham-controlled, randomized trial.

Metabolic dysfunction-associated steatohepatitis(MASH) is commonly seen in biopsy proven steatotic liver disease(SLD). Life-style intervention reaching a weight loss higher than 10% promotes MASH resolution, but this goal is only achieved by a small number of patients. Endoscopic sleeve gastroplasty(ESG) has recently emerged as a safe and effective option to promote weight loss in obese population.

Interobserver and Intraobserver Agreement on the Treatment of Infantile Hemangiomas.

Importance: Although clinical practice guidelines exist for the treatment of infantile hemangiomas (IHs), recommendations are heterogeneous, and wide practice variations in IH management have been reported.

Objective: To analyze the degree of agreement in treatment choices for IH among pediatric dermatologists in North America and Europe and assess whether there are differences across IH risk categories.

Design, Setting, And Participants: This cross-sectional interrater and intrarater agreement study was conducted through a survey based on the Spanish Academy of Dermatology and Venereology IH prospective cohort.

Neuroprotective and Anti-Inflammatory Effects of Dimethyl Fumarate, Monomethyl Fumarate, and Cannabidiol in Neurons and Microglia.

Dimethyl fumarate (DMF) is an immunomodulatory treatment for multiple sclerosis (MS) that can cross the blood-brain barrier, presenting neuroprotective potential. Its mechanism of action is not fully understood, and there is a need to characterize whether DMF or its bioactive metabolite monomethyl fumarate (MMF) exerts neuroprotective properties. Moreover, the combination of adjuvant agents such as cannabidiol (CBD) could be relevant to enhance neuroprotection.

Real-World Evidence on Adverse Events and Healthcare Resource Utilization in Patients with Chronic Lymphocytic Leukaemia in Spain Using Natural Language Processing: The SRealCLL Study.

The SRealCLL study described the occurrence of adverse events (AEs) and healthcare resource utilization in patients with chronic lymphocytic leukaemia (CLL) using artificial intelligence in a real-world scenario in Spain. We collected real-world data on patients with CLL from seven Spanish hospitals between January 2016 and December 2018, focusing on their AE and healthcare service utilization. Data extraction from electronic health records of 385,904 patients was performed using the EHRead technology, which is based on natural language processing and machine learning.

Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

Position statement of the Spanish Working Group on Crohn's Disease and Ulcerative Colitis on the use of Telemedicine in Inflammatory Bowel Disease.

Inflammatory Bowel Disease (IBD) is a chronic digestive condition that requires continuous monitoring by healthcare professionals to determine appropriate therapy and manage short- and long-term complications. Telemedicine has become an essential approach for managing chronic conditions such as IBD, improving care accessibility and continuity, decreasing hospitalization rates, and optimizing patient follow-up. It enables rapid treatment adjustments and encourages patient self-management.

Key priorities for the implementation of the 2023 ESC Guidelines for the Management of Cardiomyopathies in low resource settings.

ESC Guidelines provide best practice, evidence-based recommendations for diagnosing and treating patients with cardiovascular diseases. It is not always possible for best practices to be followed, however, particularly in low-resource settings. To address this issue, a set of guideline-related documents were created to identify key priorities for users in these settings.

Zanubrutinib Versus Bendamustine and Rituximab in Patients With Treatment-Naïve Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: Median 5-Year Follow-Up of SEQUOIA.

JCO SEQUOIA (ClinicalTrials.gov identifier: NCT03336333) is a phase III, randomized, open-label trial that compared the oral Bruton tyrosine kinase inhibitor zanubrutinib to bendamustine plus rituximab (BR) in treatment-naïve patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). The initial prespecified analysis (median follow-up, 26.

Parental Assessment of Infantile Hemangioma Cosmetic Clinical Outcomes: Results of the Spanish Hemangioma Nationwide Prospective Cohort.

Background: Functional impairment is the main consideration when it comes to choosing therapy for infantile hemangiomas (IH). However, since most hemangiomas are treated for cosmetic reasons, it is important to know the cosmetic outcome assessed by the parents.

Objective: To evaluate the aesthetic outcomes of IH, considering the characteristics of the lesions and the treatments used.

Trends and Outcomes in Pituitary Apoplexy Management: A Spanish Observational Multicenter Study.

Background And Objective: Currently, the management for pituitary apoplexy (PA) has been promoted toward a more conservative approach, particularly for patients with low-grade PA scores. Our aim was to investigate trends in PA management and compare clinical presentation, therapeutic approaches, and outcomes before and after 2017, additionally to evaluate long-term outcomes in conservatively treated patients.

Methods: Spanish multicenter, retrospective study.