Polygenic and Polyenvironment Interplay in Schizophrenia-Spectrum Disorder and Affective Psychosis; the EUGEI First Episode Study.

Background: Multiple genetic and environmental risk factors play a role in the development of both schizophrenia-spectrum disorders and affective psychoses. How they act in combination is yet to be clarified.

Methods: We analyzed 573 first episode psychosis cases and 1005 controls, of European ancestry.

Coexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis.

Background: The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis.

Cortical hypometabolism in Parkinson's disease is linked to cholinergic basal forebrain atrophy.

Cortical hypometabolism on FDG-PET is a well-established neuroimaging biomarker of cognitive impairment in Parkinson's disease (PD), but its pathophysiologic origins are incompletely understood. Cholinergic basal forebrain (cBF) degeneration is a prominent pathological feature of PD-related cognitive impairment and may contribute to cortical hypometabolism through cholinergic denervation of cortical projection areas. Here, we investigated in-vivo associations between subregional cBF volumes on 3T-MRI, cortical hypometabolism on [F]FDG-PET, and cognitive deficits in a cohort of 95 PD participants with varying degrees of cognitive impairment.

Artificial intelligence for identification of candidates for device-aided therapy in Parkinson's disease: DELIST-PD study.

Introduction: In Parkinson's Disease (PD), despite available treatments focusing on symptom alleviation, the effectiveness of conventional therapies decreases over time. This study aims to enhance the identification of candidates for device-aided therapies (DAT) using artificial intelligence (AI), addressing the need for improved treatment selection in advanced PD stages.

Methods: This national, multicenter, cross-sectional, observational study involved 1086 PD patients across Spain.

Point-of-care testing improves care timeliness in the emergency department. A multicenter randomized clinical trial (study POCTUR).

Objectives: Emergency department (ED) crowding is a widespread problem that positions patients at risk. The desire to improve the ED throughput requires novel approaches. Point-of-care testing (POCT) has emerged as useful technology that could contribute to create more efficient patient flow and better timeliness in the ED.

Design of an international, phase IV, open-label study of simoctocog alfa in women/girls with hemophilia A undergoing surgery (NuDIMENSION).

Background: Although hemophilia A mainly affects males, carriers (defined as females with hemophilia A, as well as symptomatic or asymptomatic hemophilia A carriers) are at risk of excessive bleeding, particularly during trauma or during surgical procedures. Clinical trials have focused on male patients with severe disease, and data for females are limited. Improved, evidence-based treatment guidelines for management of hemophilia A carriers are required.

Impact of HA-PCI on self-reported cognitive functioning and brain metastases in small-cell lung cancer: Pooled findings of NCT01780675 and PREMER trials.

Background: Cognitive decline is an arising concern in patients who need cranial irradiation. We used the pooled longitudinal individual patient data of two phase III trials: NCT01780675 and PREMER to investigate whether hippocampal avoidance (HA)-PCI is associated with improved self-reported cognitive functioning (SRCF) compared with PCI without increasing brain metastases (BM) development within the HA area.

Methods: Patients with stage I-IV small cell lung cancer (SCLC) were randomized to PCI or HA-PCI.

Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.

Background And Objective: Prevalence studies of acid sphingomyelinase deficiency (ASMD) are scarce and different in Spain. The objective of the present study was to determine the estimated prevalence of patients diagnosed with ASMD (types A/B and B) in Spain.

Material And Methods: PREVASMD was a descriptive, multicenter, and ecological study involving 21 physicians from different specialties (mainly Internal Medicine, Paediatrics and Hematology), of different autonomous communities, with experience in ASMD management.

Real-World Experience of Imipenem-Relebactam Treatment as Salvage Therapy in Difficult-to-Treat Pseudomonas aeruginosa Infections (IMRECOR Study).

Introduction: Difficult-to-treat-resistant (DTR) infections caused by Pseudomonas aeruginosa represent a global public health threat, prioritizing the search and development of new antibiotics for this microorganism.

Methods: We present the real-life experience of the compassionate use of imipenem/cilastatin/relebactam in a descriptive study involving 14 patients with DTR-P. aeruginosa infection and limited treatment options.

Burnout Among Physicians of Specialties Dedicated to Liver Transplantation.

Burnout is increasingly relevant among healthcare professionals. The aim of this study is to describe the prevalence of burnout and other parameters of professional satisfaction among different specialists dedicated to Liver Transplantation (LT) in transplant teams. A working group from the Spanish Society of LT designed a survey with 39 questions evaluating the prevalence of parameters related to professional satisfaction, including burnout.

Delayed changes in the transcriptomic profile of cerebral arteries in a rat model of subarachnoid hemorrhage.

Aneurismal subarachnoid hemorrhage (aSAH) is a neurovascular disease characterized by blood released into the subarachnoid space due to rupture of the cerebral arteries. After the onset of bleeding, secondary associated vasospasm (VSP) remains a dramatic side effect that causes severe comorbidities. We analyzed alterations in the expression profiles of arteries from a rat model of SAH using microarray and bioinformatics approaches.

Relationship Between Age, Conditioning Intensity, and Outcome After Allografting in Adults Age ≥60 Years with AML.

Methodological advancements now allow older adults with AML to receive allografts although conflicting data exist regarding relative outcomes across age groups and benefits of different conditioning intensities. We retrospectively analyzed 495 adults aged 60-64 (n = 184), 65-69 (n = 189), or ≥ 70 (n = 122) who underwent allogeneic HCT for AML in remission at our institution from 2006 to 2023. There were no significant differences in relapse or relapse-free survival (RFS) among the 3 age cohorts after multivariable adjustment.

Microbiome-Centered Therapies for the Management of Metabolic Dysfunction-Associated Steatotic Liver Disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a significant global health issue, affecting over 30% of the population worldwide due to the rising prevalence of metabolic risk factors such as obesity and type 2 diabetes mellitus (T2DM). This spectrum of liver disease ranges from isolated steatosis to more severe forms such as steatohepatitis, fibrosis, and cirrhosis. Recent studies highlight the role of gut microbiota in MASLD pathogenesis, showing that dysbiosis significantly impacts metabolic health and the progression of liver disease.

Nivolumab plus Ipilimumab in Microsatellite-Instability-High Metastatic Colorectal Cancer.

Background: Patients with microsatellite-instability-high (MSI-H) or mismatch-repair-deficient (dMMR) metastatic colorectal cancer have poor outcomes with standard chemotherapy with or without targeted therapies. Nivolumab plus ipilimumab has shown clinical benefit in nonrandomized studies of MSI-H or dMMR metastatic colorectal cancer.

Methods: In this phase 3 open-label trial, we randomly assigned patients with unresectable or metastatic colorectal cancer and MSI-H or dMMR status according to local testing to receive, in a 2:2:1 ratio, nivolumab plus ipilimumab, nivolumab alone, or chemotherapy with or without targeted therapies.

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.

Palbociclib and letrozole for hormone receptor-positive HER2-negative breast cancer with residual disease after neoadjuvant chemotherapy.

With the incorporation of cyclin-dependent kinase inhibitors in early breast cancer (BC), a better identification of biomarkers is needed. The PROMETEO II trial aimed to evaluate the antitumor activity of palbociclib plus letrozole and to identify response biomarkers in patients with operable HR+/HER2- BC and residual disease after neoadjuvant chemotherapy (NAC). The primary endpoint was the rate of complete cell cycle arrest (CCCA), centrally determined by Ki67 ≤ 2.