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.

Intraventricular thrombus in Takotsubo syndrome: Incidence, predictors, management, and prognosis. Insights from the RETAKO registry.

Background: Takotsubo syndrome (TTS) is characterized by transient left ventricular (LV) dysfunction and wall motion abnormalities without culprit coronary artery disease. LV thrombus (LVT) formation during the acute phase is a fearsome complication.

Objectives: To identify factors associated with LVT and its prognostic impact in TTS patients.

Disease characteristics and outcomes of acute myeloid leukemia in germline deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.

DOse and administration Time of Indocyanine Green in near-infrared fluorescence cholangiography during laparoscopic cholecystectomy (DOTIG): a randomized clinical trial.

Background: Different techniques have been proposed to reduce the incidence of the intraoperative bile duct injury during laparoscopic cholecystectomy (LC). Among these, Near-Infrared Fluorescence Cholangiography (NIFC) with Indocyanine Green (ICG) represents a relatively recent addition. At present, there is considerable variation in the protocols for the administration of ICG.

Real-World Experience in Tricuspid Transcatheter Edge-to-Edge Repair: Transcatheter Tricuspid Valve Repair in Spain Registry.

Background: Significant tricuspid regurgitation (TR) is associated with increased morbidity and mortality. The development of transcatheter valve repair therapies has opened a wide range of opportunities for treatment of patients with high surgical risk. Real-world data might improve patient selection and outcome.

Cardiovascular profile of systemic lupus erythematosus patients hospitalized for COVID-19 in Spain: Analysis of the SEMI-COVID-19 Registry.

Background: Despite advancements in understanding the interplay between systemic lupus erythematosus (SLE), cardiovascular disease and COVID-19, challenges and knowledge gaps persist. This study aimed to characterize the cardiovascular profiles of SLE patients hospitalized with COVID-19 and to evaluate the influence of SLE on the development of cardiovascular complications.

Methods: This was a multicentre, nationwide observational study in which data were sourced from the SEMI-COVID-19 Registry between March 1, 2020, and March 31, 2021, involving 150 Spanish hospitals.

Empirical antibiotic therapy improves outcomes in mechanically ventilated patients with COVID-19: An emulated targeted trial within a prospective, multicentre cohort study.

Background: Bacterial pulmonary superinfections develop in a substantial proportion of mechanically ventilated COVID-19 patients and are associated with prolonged mechanical ventilation requirements and an increased mortality. Albeit recommended, evidence supporting the use of empirical antibiotics at intubation is weak and of low quality. The aim of this study was to elucidate the effect of empirical antibiotics, administered within 24hours of endotracheal intubation, on superinfections, duration of mechanical ventilation, and mortality in mechanically ventilated patients with COVID-19.

Epidemiologic and clinical characteristics and course of acute heart failure and cardiogenic shock diagnosed in emergency departments.

Objective: To describe the characteristics of patients diagnosed with acute heart failure (AHF) in emergency departments (EDs) who develop cardiogenic shock (CS) not associated with ST-segment elevation acute coronary syndrome (STACS).

Methods: Information for patients diagnosed with AHF in 23 Spanish EDs and registered between 2009 and 2019 were included for analysis if the patients developed symptoms consistent with CS. We described baseline clinical characteristics related to cardiac decompensation and CS, as well as 30-day mortality.

Intraoperative liquid biopsy as a tool for detecting R1 resection during pancreatoduodenectomy in patients with pancreatic carcinoma: the CETUPANC trial (part II).

Introduction: A positive surgical margin (R1 resection) is a relevant risk factor for local recurrence in patients with pancreatic ductal adenocarcinoma of the pancreas (PDAC). An intraoperative liquid biopsy (ILB) based on tumor cell mobilization could help to detect R1 resection intraoperatively.

Objective: To evaluate the potential role of the intraoperative circulating tumor cells (CTCs) and cluster mobilization on the R0/R1 detection.

Absence of MCJ/DnaJC15 promotes brown adipose tissue thermogenesis.

Obesity poses a global health challenge, demanding a deeper understanding of adipose tissue (AT) and its mitochondria. This study describes the role of the mitochondrial protein Methylation-controlled J protein (MCJ/DnaJC15) in orchestrating brown adipose tissue (BAT) thermogenesis. Here we show how MCJ expression decreases during obesity, as evident in human and mouse adipose tissue samples.

Distal Access Catheter Improves Balloon Guide and Stent Retriever Thrombectomy Outcomes in Nonagenarians.

Background And Purpose: The safety and effectiveness of endovascular techniques in elderly patients with large vessel occlusion (LVO) remain controversial. We investigated the angiographic and clinical outcomes of nonagenarians treated with different endovascular techniques using a balloon guide catheter (BGC), distal aspiration catheter (DAC), and/or stent retriever (SR).

Methods: We analyzed the data from the Registry of Combined versus Single Thrombectomy Techniques (ROSSETTI) of consecutive nonagenarian patients with anterior circulation LVO and compared the outcomes of those treated with BGC+noDAC+SR (101-group), BGC+DAC+SR (111-group), and noBGC+DAC+SR (011-group).

Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia and small lymphocytic lymphoma from Chronic Lymphocytic Leukemia Spanish Group (GELLC).

Introduction: Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in adults in Western countries, with a median age at diagnosis of 72 years. This guide, developed by the Spanish Group for Chronic Lymphocytic Leukemia (GELLC), addresses the most relevant aspects of CLL, with the objectives of facilitating and aiding the diagnostic process, establishing therapeutic recommendations for choosing the best treatment for each type of patient, as well as standardizing the management of CLL and ensuring equity across different hospitals in terms of the use of the various available treatment regimens.

Methodology: The references obtained were classified according to the level of evidence and following the criteria established by the Agency for Health Research and Quality, and the recommendations were classified according to the criteria of the National Comprehensive Cancer Network (NCCN).

Learning from Other Tumors: Pathways for Progress and Overcoming Challenges in Cholangiocarcinoma.

Cholangiocarcinoma (CCA) is a group of complex and heterogeneous tumors originating from the epithelial cells of bile ducts that can occur in intrahepatic, perihilar, or distal localizations [...

Sex Differences in Gut Microbiota and Their Relation to Arterial Stiffness (MIVAS Study).

Background: Recent research highlights the potential role of sex-specific variations in cardiovascular disease. The gut microbiome has been shown to differ between the sexes in patients with cardiovascular risk factors.

Objectives: The main objective of this study is to analyze the differences between women and men in the relationship between gut microbiota and measures of arterial stiffness.

Impact of functional re-education and environmental adaptation in cancer patients with respiratory pathology: Study protocol.

Background: In recent years, cancer survival rates have increased exponentially. However, this rise in survival comes with a significant drawback. As the number of treatment lines has grown, so too have the side effects, which can severely impact patients' functionality and quality of life.

Statistical methods to adjust for the effects on intervention compliance in randomized clinical trials where precision treatment rules are being developed.

Background: Heterogeneity of treatment effects (HTEs) can occur because of either differential treatment compliance or differential treatment effectiveness. This distinction is important, as it has action implications, but it is unclear how to distinguish these two possibilities statistically in precision treatment analysis given that compliance is not observed until after randomization. We review available statistical methods and illustrate a recommended method in secondary analysis in a trial focused on HTE.

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.

Risk factors for one-year mortality in 440 femoral peri-implant fractures: insights from the PIPPAS prospective, multicentre, observational study.

Aims: The Peri-Implant and PeriProsthetic Survival AnalysiS (PIPPAS) study aimed to investigate the risk factors for one-year mortality of femoral peri-implant fractures (FPIFs).

Methods: This prospective, multicentre, observational study involved 440 FPIF patients with a minimum one-year follow-up. Data on demographics, clinical features, fracture characteristics, management, and mortality rates were collected and analyzed using both univariate and multivariate analyses.

Talquetamab plus Teclistamab in Relapsed or Refractory Multiple Myeloma.

Background: Talquetamab (anti-G protein-coupled receptor family C group 5 member D) and teclistamab (anti-B-cell maturation antigen) are bispecific antibodies that activate T cells by targeting CD3 and that have been approved for the treatment of triple-class-exposed relapsed or refractory multiple myeloma.

Methods: We conducted a phase 1b-2 study of talquetamab plus teclistamab in patients with relapsed or refractory multiple myeloma. In phase 1, we investigated five dose levels in a dose-escalation study.

Evolution of frontline treatment for multiple myeloma: clinical investigation of quadruplets containing carfilzomib and anti-CD38 monoclonal antibodies.

Although survival rates for patients with newly diagnosed multiple myeloma (NDMM) have improved over recent decades, multiple myeloma (MM) remains without a cure for most. There is increasing consensus that achievement of deep remissions, especially minimal residual disease negativity (MRD -), in frontline treatment is crucial and translates into improved survival. The standard of care (SOC) for NDMM consists at minimum of a triplet regimen of therapies, with or without an autologous stem cell transplant, or a doublet regimen for certain ineligible, particularly frail patients who may have specific limitations.

Dystonia caused by ANO3 variants is due to attenuated Ca influx by ORAI1.

Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.

Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.

Assessment of Humoral Response at SARS-CoV-2 Infection by Multipronged Functional Proteomics Approaches.

In the past decade, a major goal in biomedical research has been to understand why individuals differ in disease susceptibility, disease dynamics, and progression. In many pathologies, this variability stems from evolved immune mechanisms that resist inflammatory stress from various diseases that have been encountered throughout life. These may provide advantages against other diseases, reduce comorbidities, and enhance longevity.

Association Between Common Variants in the / Genes and Risk for Essential Tremor.

Many clinical, neuroimaging, neuropathological, epidemiological, and genetic data suggest a relationship between essential tremor (ET) and Parkinson's disease (PD). Several hypothesis-based gene association studies attempted to find a genetic association between these diseases. Recent case-control association studies in Chinese and Spanish populations showed a marginal association between the rs1922452 and rs951818 single nucleotide variants (SNVs) and the risk of PD.