Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

"Effectiveness and tolerability of intravenous fosfomycin in treating complicated urinary tract infections caused by Escherichia coli: A prospective cohort study from the FOSFO-MIC Project".

Objectives: The FOSFO-MIC study assessed the clinical and microbiological effectiveness, and safety of intravenous fosfomycin in treating complicated urinary tract infections (cUTIs) caused by Escherichia coli, in comparison with other intravenous antimicrobials.

Methods: A prospective, multinational matched-cohorts study involving adults with community-acquired cUTIs and receiving targeted therapy with intravenous fosfomycin or other first-line drugs (beta-lactams or fluoroquinolones) was conducted from November 2019 to May 2023 in 10 centres from Spain, Italy, and Türkiye. Matching criteria included healthcare-relation, Charlson and Pitt scores.

Timing of exercise differentially impacts adipose tissue gain in male adolescent rats.

Circadian rhythms of metabolic, hormonal, and behavioral fluctuations and their alterations can impact health. An important gap in knowledge in the field is whether the time of the day of exercise and the age of onset of exercise exert distinct effects at the level of whole-body adipose tissue and body composition. The goal of the present study was to determine how exercise at different times of the day during adolescence impacts the adipose tissue transcriptome and content in a rodent model.

Ethics and trustworthiness of artificial intelligence in Hepato-Pancreato-Biliary surgery: a snapshot of insights from the European-African Hepato-Pancreato-Biliary Association (E-AHPBA) survey.

Background: Hepato-Pancreato-Biliary (HPB) surgery is a complex specialty and Artificial Intelligence (AI) applications have the potential to improve pre- intra- and postoperative outcomes of HPB surgery. While ethics guidelines have been developed for the use of AI in clinical surgery, the ethical implications and reliability of AI in HPB surgery remain specifically unexplored.

Methods: An online survey was developed by the Innovation Committee of the E-AHPBA to investigate the current perspectives on the ethical principles and trustworthiness of AI in HPB Surgery among E-AHPBA membership.

Machine Learning Algorithms in Controlled Donation After Circulatory Death Under Normothermic Regional Perfusion: A Graft Survival Prediction Model.

Background: Several scores have been developed to stratify the risk of graft loss in controlled donation after circulatory death (cDCD). However, their performance is unsatisfactory in the Spanish population, where most cDCD livers are recovered using normothermic regional perfusion (NRP). Consequently, we explored the role of different machine learning-based classifiers as predictive models for graft survival.

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.

Efficacy and safety of the PHIL embolic agent in the treatment of intracranial dural arteriovenous fistulas: results of the PHIL-dAVF study.

Background And Purpose: Embolization is the first-line treatment for dural arteriovenous fistulas (dAVF). The precipitating hydrophobic injectable liquid (PHIL) embolic agent is a non-adhesive copolymer with specific features and endovascular behavior. This study assessed its safety and efficacy in a prospective real-life cohort.

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.

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications.

Predictive Value of Flow Cytometry Quantification of BAL Lymphocytes and Neutrophils in ILD.

Interstitial lung diseases (ILDs) are pathologies affecting the pulmonary interstitium and, less frequently, the alveolar and vascular epithelia. Bronchoalveolar lavage (BAL) is commonly used in ILD evaluation since it allows the sampling of the lower respiratory tract. The prognostic value of BAL cell counts in ILD is unknown.

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.

Perioperative transfusion management in craniotomies: A national survey, a starting point for the evaluation of improvements in health care.

Objective: To assess the perioperative management of haemostasis and transfusion practices in adult patients undergoing craniotomies.

Method: Online questionnaire addressed to Spanish anaesthesiologists and promoted by the Neurosciences and Haemostasis, Transfusion Medicine and Fluid Therapy Sections of SEDAR. The questionnaire was sent by email and social media, and was active between June and October 2022.

Optimal Medical Therapy for Heart Failure and Integrated Care in Patients With Atrial Fibrillation: A Report From the ESC-EHRA EORP Atrial Fibrillation Long-Term General Registry.

Background: Heart failure (HF) often occurs in patients with atrial fibrillation (AF), with a major impact on prognosis. Few data are available on the effect of integrated treatment strategies to improve prognosis in patients with AF. We aimed to evaluate the association between HF (according to left ventricular ejection fraction [LVEF]), HF optimal medical therapy and adherence to the Atrial Fibrillation Better Care pathway, and major outcomes in patients with AF.

A Clinical Care Algorithm for Detecting Progression in Multiple Sclerosis: RetratEMos Project.

Objective: The diagnosis of secondary progressive multiple sclerosis (SPMS) is often established retrospectively leading to a delay in detection. This work presents a clinical care algorithm that aims to facilitate the recognition of the secondary progressive phase of the disease, analyzing its usefulness and the feasibility of its implementation in routine clinical practice.

Methods: The algorithm was developed in four phases: 1) choice of validated diagnostic tools for the detection of progression; 2) assessment of these tools based on experience of use, applicability, time consumed, perceived usefulness and suitability for a profile of a patient in transition to SPMS; 3) framework and final sequence of application; 4) feasibility evaluation through application in clinical practice.

Safety and Efficacy of BioMime Sirolimus-Eluting Stent System in All-Comers Real-World Population With Coronary Artery Stenosis: MILES Global Registry.

Background: This study evaluated the safety and efficacy of BioMime sirolimus-eluting stent (SES) system, with an ultra-low strut thickness (65 µm), in real-world all-comers population with coronary artery stenosis (CAD).

Methods: This was a post-marketing, multicenter, single-arm, observational clinical registry among patients undergoing intervention for CAD. Patients were clinically followed up at 1, 9, 12, and 24 months after the index percutaneous coronary intervention.

Characterization of thrombosis risk in ambulatory patients with cancer: results of the observational, prospective, multicenter CARTAGO study.

Background: Venous thromboembolism (VTE) is one of the leading causes of death in patients with cancer. Currently, there is a need to develop an easily applicable risk model that can identify patients who will benefit from receiving primary thromboprophylaxis to reduce the incidence of VTE.

Patients And Methods: This was a non-interventional, multicenter, observational, prospective study carried out in 62 Oncology and Hematology services in Spain and Portugal between January 2018 and December 2019.

Identification of Two New HLA-DQA1 Alleles: HLA-DQA1*01:173 and -DQA1*03:82.

HLA-DQA1*01:173 and -DQA1*03:82, two novel HLA-DQA1 alleles detected by next generation sequencing.

Loss of protects against MASLD alone or with alcohol intake by preserving lipid homeostasis.

Background & Aims: Expression of P21, encoded by the gene, has been associated with fibrosis progression in steatotic liver disease (SLD); however, the underlying mechanisms remain unknown. In the present study, we investigated the function of CDKN1A in SLD.

Methods: expression levels were evaluated in different patient cohorts with SLD, fibrosis, and advanced chronic liver disease (ACLD).

Clinical impact of [18F]FDG-PET/CT in ARI0002h treatment, a CAR-T against BCMA for relapsed/refractory multiple myeloma.

Multiple myeloma (MM) remains incurable, with poor outcomes in heavily pre-treated patients with plasmacytomas. Chimeric antigen receptor (CAR) T-cell therapy has emerged as a promising treatment option; however, outcomes after such therapy in patients with soft-tissue plasmacytomas and other bone lesions remain poorly understood. Data regarding these parameters is scarce within the specific context of CAR T-cell treatment.

Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.

Background: Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating variants.

Refrigerated amniotic membrane maintains its therapeutic qualities for 48 hours.

During wound healing, the migration of keratinocytes is critical for wound closure. The application of amniotic membrane (AM) on wounds with challenging contexts (e.g.