Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies.

Aims: Mutations in the cardiac ryanodine receptor (RyR2) are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This study investigates the underlying molecular mechanisms for CPVT mutations within the RyR2 N-terminus domain (NTD).

Methods And Results: We consulted the high-resolution RyR2 structure in both open and closed configuration to identify mutations G357S/R407I and A77T, which lie within the NTD intra- and inter-subunit interface with the Core Solenoid (CSol), respectively.

Leishmaniasis in Patients With Inflammatory Bowel Disease: A National Multicenter Study of GETECCU.

Background: Leishmaniasis (LI) is a vector-borne illness caused by a protozoan of the genus Leishmania. Data on the features of LI in patients with inflammatory bowel disease (IBD) are scarce.

Aim: To describe the characteristics of patients with IBD who present with leishmaniasis, infection outcomes and the risk factors associated with developing visceral leishmaniasis (VL).

Multi-omics-based mapping of decidualization resistance in patients with a history of severe preeclampsia.

Endometrial decidualization resistance (DR) is implicated in various gynecological and obstetric conditions. Here, using a multi-omic strategy, we unraveled the cellular and molecular characteristics of DR in patients who have suffered severe preeclampsia (sPE). Morphological analysis unveiled significant glandular anatomical abnormalities, confirmed histologically and quantified by the digitization of hematoxylin and eosin-stained tissue sections.

Vitiligo-like hypopigmentation secondary to adjuvant checkpoint inhibitor therapy in patients with resectable stage III melanoma: a cohort from two tertiary hospitals.

Vitiligo-like hypopigmentation induced by immune checkpoint inhibitors (ICIs) has been largely associated with improved survival outcomes in metastatic melanoma. However, its development during adjuvant ICI therapy and its role as a prognostic factor in this setting remain unclear. We aimed to describe ICI-induced vitiligo in a cohort of patients with resected stage III melanoma treated with adjuvant ICI and to identify differences in progression-free survival (PFS) and distant metastasis-free survival (DMFS) between those who developed vitiligo and those who did not.

Mortality in patients with giant cell arteritis in Spain: results from the ARTESER registry.

Objectives: To compare mortality rates between GCA patients and the general population in Spain, and to identify associated factors influencing mortality.

Methods: ARTESER, a multicenter registry by the Spanish Society of Rheumatology, includes GCA patients from June 2013 to March 2019. Demographic, clinical, imaging, histological and mortality data were collected retrospectively.

Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol.

Osteosarcoma is a rare disease, but it is the most frequent malignant bone tumor. Primary treatment consists of preoperative MAP (methotrexate (MTX), doxorubicin and cisplatin) chemotherapy followed by surgery and adjuvant chemotherapy. Pathological response to preoperative chemotherapy is one of the most important prognostic factors, but molecular biomarkers are lacking.

Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.

Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant systemic disease, where amyloid fibrils accumulate especially in the peripheral and autonomic nervous systems and in the heart. The aim of the present work was to outline the follow-up and type of management received by asymptomatic carriers (ACs) and stage 1 ATTRv patients in Spain. A cross-sectional, non-interventional study was conducted throughout seven experienced hospitals in Spain.

Destination Therapy Strategies of Advanced Heart Failure in Elderly Non-Heart Transplant Candidates: A Propensity Matching Analysis from the LEVO-D and REGALAD Registries.

Heart transplantation (HT) is the gold standard therapy for advanced heart failure (ADHF), and LVADs as destination therapy are an option in non-HT candidates. Most patients with ADHF never receive HT or an LVAD, so alternative strategies are needed. Intermittent levosimendan can reduce HF hospitalizations in ADHF patients in the short term.

Use of the MNCD Classification to Monitor Clinical Stage and Response to Levodopa-Entacapone-Carbidopa Intestinal Gel Infusion in Advanced Parkinson's Disease.

Background And Objective: Staging Parkinson's disease (PD) with a novel simple classification called MNCD, based on four axes (Motor; Non-motor; Cognition; Dependency) and five stages, correlated with disease severity, patients' quality of life and caregivers' strain and burden. Our aim was to apply the MNCD classification in advanced PD patients treated with device-aided therapy (DAT).

Patients And Methods: A multicenter observational retrospective study of the first patients to start the levodopa-entacapone-carbidopa intestinal gel (LECIG) in Spain was performed (LECIPARK study).

Preferential Genetic Pathways Lead to Relapses in Adult B-Cell Acute Lymphoblastic Leukemia.

Adult B-cell acute lymphoblastic leukemia (B-ALL) is characterized by genetic heterogeneity and a high relapse rate, affecting over 40% of adults. However, the mechanisms leading to relapse in adults are poorly understood. Forty-four adult B-ALL patients were studied at both diagnosis and relapse by next-generation sequencing (NGS).

The Value of Bone Marrow Assessment by FDG PET/CT, Biopsy and Aspirate in the Upfront Evaluation of Mantle Cell Lymphoma: A Nationwide Cohort Study.

Background: Assessment of bone marrow infiltration (BMI) is part of the initial staging of mantle cell lymphoma (MCL), although BMI evaluated by biopsy (BMB) is not considered significant in the MIPI scales, and standardized recommendations remain lacking.

Objectives: To evaluate the accuracy and prognostic impact of BMI assessed by PET/CT and BMB in a large series of MCL patients.

Methods: We deconstructed the IPI-NCCN, MIPI, and MIPI-c indices and considered BMI as positive if indicated by a BMB, PET/CT scan, or a combination of both.

Effect of a competence based medical education program on training quality in Intensive Care Medicine. COBALIDATION TRIAL.

Objectives: The main objective of this study was to evaluate whether the implementation of CoBaTrICE (Competency-Based Training in Intensive Care Medicine in Europe) provides higher levels of competency in comparison with the current official time-based program in Intensive Care Medicine in Spain. Secondary objectives were: 1) To determine the percentage of critical essential performance elements (CEPE) accomplished, 2) To determine compliance with workplace-based assessments (wba).

Design: Multicenter cluster randomized trial.

New COVID-19 vaccination recommendations in Spain: Optimizing for next seasons.

Despite high initial vaccination rates, Spain's current COVID-19 vaccination coverage in recommended groups does not meet WHO targets. For the upcoming season, challenges include revising vaccination age, updating risk groups, and unifying criteria with flu vaccine co-administration. European Commission's advance purchase agreements limit access to certain vaccines, and the need for vaccines effective against current variants adds administrative complexities.

Profile and Usefulness of Serum Cytokines to Predict Prognosis in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Objectives: To characterize the serum cytokine profile in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) at onset and during follow-up and assess their utility for predicting relapses and disability.

Methods: This retrospective multicentric cohort study included patients aged 16 years and older meeting MOGAD 2023 criteria, with serum samples collected at baseline (≤3 months from disease onset) and follow-up (≥6 months from the baseline), and age-matched and time to sampling-matched patients with multiple sclerosis (MS). Eleven cytokines were assessed using the ELLA system.

Clustering patients with COVID-19 according to respiratory support requirements, and its impact on short- and long-term outcome (RECOVID study).

Introduction: The Spanish Society of Pulmonology and Thoracic Surgery created a registry for hospitalised patients with COVID-19 and the different types of respiratory support used (RECOVID). Objectives. To describe the profile of hospitalised patients with COVID-19, comorbidities, respiratory support treatments and setting.

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%).

Ileal Predominance in Crohn's Disease Is Associated With Increased Intestinal Surgery and Biological Therapy Use, With Lower Treatment Persistence.

Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.

Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.

Rationale and design of the beta-blockers in tako-tsubo syndrome study: a randomized clinical trial (β-Tako).

Unlabelled: Introduction y objectives: Tako-tsubo syndrome (TTS) is a cardiac condition that mimics acute coronary syndrome, characterized by transient left ventricular dysfunction in the absence of culprit coronary artery stenosis. Although its etiology remains unknown, reversible microvascular dysfunction secondary to an adrenergic surge is thought to play a role. Treatment is empirical, although most patients receive beta-blockers (BB) in clinical practice.

Impact on Survival of Heart and Heart-Lung Transplantation in Patients With Cyanotic and Noncyanotic Congenital Heart Diseases.

Background: A high percentage of patients with congenital heart diseases (CHD) reach adulthood and, over time, require heart transplantation (HTx) or combined heart-lung transplantation (HLTx). Among CHD, there are subgroups associated with a higher risk.

Methods: Retrospective analysis of HTx and HLTx in CHD patients.

Validation of a hand-held ultrasound device in the evaluation of aortic stenosis.

Hand-held ultrasound devices (HHUD) are increasingly used in routine clinical practice, though they lacked continuous (CW) Doppler capability until recent times. There is limited evidence on the utility of HHUD in assessing aortic stenosis (AS) in real-world settings. Our goal was to validate a new HHUD with CW Doppler assessing AS hemodynamic severity.

Open-label phase II clinical trial of orteronel (TAK-700) in metastatic or advanced non-resectable granulosa cell ovarian tumors: the Greko II study (GETHI2013-01).

Background: Granulosa cell ovarian tumors (GCTs) are a rare neoplasia characterized by a pathognomonic mutation in the FOXL2 gene. In vitro studies have demonstrated an overactivation of hormone activity due to this alteration. Thus, we aimed to determine the activity of orteronel, a CYP17 inhibitor, in advanced disease.

Predicting Sarcopenia and Frailty Risk in Patients Post Heart Transplantation.

Introduction: Currently, there is little evidence on the prevalence and factors associated with sarcopenia risk or frailty risk in patients post heart transplantation (HTx). The objective of this study was to analyze the influence of sociodemographic, lifestyle, physical, and psychological factors on sarcopenia and frailty risk in patients post-HTx.

Methods: 133 patients post-HTx (59.