Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.

PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg + pbo). The primary endpoint was change in 6-min walk distance (6MWD) from baseline to week 52. During PROPEL, COVID-19 interrupted some planned study visits and assessment windows, leading to delayed visits, make-up assessments for patients who missed ≥ 3 successive infusions before planned assessments at weeks 38 and 52, and some advanced visits (end-of-study/early-termination visits).

Can ICD Electrograms Help Ventricular Tachycardia Ablation?: Results From the Multicenter Randomized AIDEG-VTA Trial.

Background: The results of ablation of sustained monomorphic ventricular tachycardia (SMVT) are suboptimal. For many patients with implantable cardioverter-defibrillators (ICDs), ICD electrograms (ICD-EGs) provide the only available information on SMVT. ICD-EGs have the ability to distinguish morphologically distinct SMVT and can be used for pace mapping.

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.

Methodological Assessment of ExoGAG for Isolation of Cerebrospinal Fluid Extracellular Vesicles as a Source of Biomarkers.

Extracellular vesicles (EVs) in cerebrospinal fluid (CSF) represent a valuable source of biomarkers for central nervous system (CNS) diseases, offering new pathways for diagnosis and monitoring. However, existing methods for isolating EVs from CSF often prove to be labor-intensive and reliant on specialized equipment, hindering their clinical application. In this study, we present a novel, clinically compatible method for isolating EVs from CSF.

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.

Ciprofloxacin for the Treatment of Infections Caused by Carbapenemase-Producing Gram-Negative Bacteria.

There is no experience with ciprofloxacin for the treatment of carbapenemase-producing Gram-negative bacteria (CP-GNB) infections. This is a retrospective single-centre study where we describe the clinical evolution of all consecutive adult patients who received ciprofloxacin monotherapy for the treatment of CP-GNB infections. Primary outcomes were clinical failure (defined as death, lack of clinical improvement or a switch to another drug) at day 14 and 30-day all-cause mortality.

Dissociating language switching from executive control in bilinguals with MCI.

Bilingual language control is a dynamic cognitive system that enables individuals to effectively manage language use and prevent interference when switching between languages. Research indicates that certain neurodegenerative conditions may influence language-switching abilities or hinder the suppression of cross-language interference. However, it remains uncertain whether neurodegeneration primarily affecting mesial temporal structures, such as Mild Cognitive Impairment (MCI), impacts lexical retrieval in dual-language naming conditions.

Contributions of connectional pathways to shaping Alzheimer's disease pathologies.

Four important imaging biomarkers of Alzheimer's disease, namely grey matter atrophy, glucose hypometabolism and amyloid-β and tau deposition, follow stereotypical spatial distributions shaped by the brain network of structural and functional connections. In this case-control study, we combined several predictors reflecting various possible mechanisms of spreading through structural and functional pathways to predict the topography of the four biomarkers in amyloid-positive patients while controlling for the effect of spatial distance along the cortex. For each biomarker, we quantified the relative contribution of each predictor to the variance explained by the model.

Cardioprotection exerted by intravenous statin at index myocardial infarction event attenuates cardiac damage upon recurrent infarction.

Aims: Recurrent acute myocardial infarction (RE-AMI) is a frequent complication after STEMI, and its association with stent thrombosis can be life-threatening. Intravenous atorvastatin (IV-atorva) administration during AMI has been shown to limit infarct size and adverse cardiac remodeling. We determined by cardiac magnetic resonance (CMR) whether the cardioprotection exerted by IV-atorva at the index AMI event translates into a better prognosis upon RE-AMI in dyslipidemic pigs.

Multicenter, prospective, case-control study of exposome in melanoma.

UV radiation is the main etiological agent of skin cancer. Other factors such as pollution, diet and lifestyle are also contributing factors. Our aim was to investigate the association between melanoma and exposome factors in the Spanish population with a prospective multicenter case-control study.

Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.

Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.

Phase 2 Open-Label Study of Sacituzumab Govitecan as Second-Line Therapy in Patients With Extensive-Stage Small Cell Lung Cancer: Results From TROPiCS-03.

Introduction: The phase 2 TROPiCS-03 study evaluated the efficacy/safety of sacituzumab govitecan (SG) as second-line treatment in patients with previously treated extensive-stage small cell lung cancer (ES-SCLC).

Methods: TROPiCS-03 (NCT03964727) is a multicohort, open-label, phase 2 basket study in solid tumors, including ES-SCLC. Adults with ES-SCLC that progressed after one prior line of platinum-based chemotherapy and anti-programmed death-(ligand) 1 (PD-[L]1) therapy received SG 10 mg/kg on days 1 and 8 of a 21-day cycle.

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.

Corrigendum: Biomarkers of response to ocrelizumab in relapsing-remitting multiple sclerosis.

[This corrects the article DOI: 10.3389/fimmu.2024.

Alterations in LDL and HDL after an ischemic stroke associated with carotid atherosclerosis are reversed after 1 year.

Approximately 20% of ischemic strokes are attributed to the presence of atherosclerosis. Lipoproteins play a crucial role in the development of atherosclerosis, with LDL promoting atherogenesis and HDL inhibiting it. Therefore, both their concentrations and their biological properties are decisive factors in atherosclerotic processes.

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.

Rescue stenting after failed mechanical thrombectomy: The RES-CAT study.

Introduction: The efficacy of intracranial rescue stenting (RS) following failed mechanical thrombectomy (MT) in large-vessel occlusion (LVO) stroke remains uncertain. We aimed to evaluate clinical outcomes of RS in patients with anterior circulation LVO stroke following unsuccessful MT.

Patients And Methods: We conducted a retrospective analysis using the Stroke Code Registry of Catalonia (January 2016-March 2022), a prospective, population-based registry including patients treated at 10 comprehensive stroke centers.

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.

First-line pembrolizumab in patients with advanced non-small cell lung cancer and high PD-L1 expression: real-world data from a Spanish multicenter study.

Introduction: Pembrolizumab stands as a first-line option for patients with advanced non-small cell lung cancer (NSCLC) and high programmed death-ligand 1 (PD-L1) expression (PD-L1 ≥50%). Several factors such as antibiotic exposure, low body mass index (BMI), certain metastatic location or poor performance status may influence outcomes.

Methods: We conducted a multicenter retrospective analysis in a cohort of patients with advanced high PD-L1 expression NSCLC treated with first-line pembrolizumab in clinical practice.

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.

Faecal calprotectin-based strategy for long-term monitoring of patients with Crohn's disease without or with mild endoscopic postoperative recurrence.

Background: Endoscopic evaluation 6-12 months after ileocolonic resection (ICR) in Crohn's disease (CD) is advised to assess the development of postoperative recurrence (POR) but no further recommendations are available for long-term monitoring if no POR is noticed.

Methods: Prospective, open-label, study including asymptomatic patients with CD and ICR in whom no POR was observed at the last endoscopic evaluation. Patients were followed-up for two years and ileocolonoscopy was performed by means of a faecal calprotectin (FC)-based strategy.

Point-of-care additive manufacturing: state of the art and adoption in Spanish hospitals during pre to post COVID-19 era.

Background: 3D technologies [Virtual and Augmented 3D planning, 3D printing (3DP), Additive Manufacturing (AM)] are rapidly being adopted in the healthcare sector, demonstrating their relevance in personalized medicine and the rapid development of medical devices. The study's purpose was to understand the state and evolution of 3DP/AM technologies at the Point-of-Care (PoC), its adoption, organization and process in Spanish hospitals and to understand and compare the evolution of the models, clinical applications, and challenges in utilizing the technology during the COVID-19 pandemic and beyond.

Methods: This was a questionnaire-based qualitative and longitudinal study.