Current and Future Role of Circulating DNA in the Diagnosis and Management of Urothelial Carcinoma.

The growing sophistication of tumor molecular profiling has helped to slowly transition oncologic care toward a more personalized approach in different tumor types, including in bladder cancer. The National Comprehensive Cancer Network recommends that all patients with stage IVA and stage IVB urothelial carcinoma have molecular analysis that integrates at least testing to help facilitate the selection of future therapeutic options. Sequencing of tumor-derived tissue is the mainstay to obtain this genomic testing, but as in other cancers, there has been extensive research into the integration of liquid biopsies in longitudinal management.

Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.

Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.

Association of single nucleotide polymorphisms rs7459185 of the HSPβ1 gene and the risk of hematological toxicity in lung cancer.

Purpose: Hematological toxicities (HTs) in lung cancer (LCa) may compromise the delivery of Radio-Chemotherapy (RTCT), and consequently affect the control of the disease. The aim of this study is to evaluate the association of Single nucleotide polymorphisms (SNPs) with HT.

Material/methods: In this prospective multicentre study, 264 patients with primary LCa treated with RTCT between 2012 and 2018 were included.

Early Myocardial Strain Reduction and miR-122-5p Elevation Associated with Interstitial Fibrosis in Anthracycline-Induced Cardiotoxicity.

Unlabelled: Echocardiographic myocardial strain is crucial for early detection of anthracycline-induced cardiotoxicity, particularly in patients at moderate or high risk.

Background/objectives: This study investigates changes in global longitudinal strain (GLS) in breast cancer patients with low baseline risk for cardiotoxicity during cancer therapy. We also examined the relationship between echocardiographic strain, structural myocardial changes, and microRNA (miRNA) dysregulation associated with cancer treatment using an animal model.

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Background: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.

Methods: Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization.

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 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 24 h of endotracheal intubation, on superinfections, duration of mechanical ventilation, and mortality in mechanically ventilated patients with COVID-19.

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.

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.

Telomere-based risk models for the early diagnosis of lung cancer.

Background: The objective of this study was to evaluate the use of telomere length measurements as diagnostic biomarkers during early screening for lung cancer in high-risk patients.

Methods: This was a prospective study of patients undergoing lung cancer diagnosis at two Spanish hospitals between April 2017 and January 2020. Telomeres from peripheral blood lymphocytes were analysed by Telomere Analysis Technology, which is based in high-throughput quantitative fluorescent in situ hybridization.

Effects of prior air pollution exposure on functional recovery after a myocardial infarction.

Air pollution is a major cardiovascular risk factor leading to higher rates of heart failure and myocardial infarction (MI), but its effects on functional recovery after an MI remain unknown. Cardiac rehabilitation is a cornerstone of post-MI care and leads to better performance and quality of life, but its benefits may be hampered in heavily polluted environments. To assess the effect of different pollutants on post-MI rehabilitation, we included 137 post-MI patients from 7 Spanish hospitals that were enrolled in a cardiac rehabilitation program who underwent two cardiopulmonary exercise tests (CPET) within a 12-week period.

Clinical outcomes and anti-inflammatory mechanisms predict maximum heart rate improvement after physical activity training in individuals with psychiatric disorders and comorbid obesity.

Introduction: This study aimed to evaluate the predictive validity and discriminatory ability of clinical outcomes, inflammatory activity, oxidative and vascular damage, and metabolic mechanisms for detecting significant improve maximum heart rate after physical activity training in individuals with psychiatric disorders and obesity comorbid using a longitudinal design and transdiagnostic perspective.

Methods: Patients with major depressive disorder, bipolar disorder and, schizophrenia and with comorbid obesity (n = 29) were assigned to a 12-week structured physical exercise program. Peripheral blood biomarkers of inflammation, oxidative stress, vascular mechanisms, and metabolic activity, as well as neurocognitive and functional performance were assessed twice, before and after intervention.

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%).

Profile of haemostasis and coagulation in patients with peritoneal carcinomatosis undergoing cytoreductive surgery with hyperthermal chemotherapy.

Background: One-third of patients with peritoneal carcinomatosis undergoing cytoreductive surgery with hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) present alterations in conventional coagulation test results. However, perioperative coagulation has not been systematically investigated in these patients. This study aimed to investigate hemostatic changes in such patients.

Respiratory Viruses in Patients With Hematological Malignancy in Boreal Autumn/Winter 2023-2024: EPICOVIDEHA-EPIFLUEHA Report.

Community-acquired respiratory viral infections (CARV) significantly impact patients with hematological malignancies (HM), leading to high morbidity and mortality. However, large-scale, real-world data on CARV in these patients is limited. This study analyzed data from the EPICOVIDEHA-EPIFLUEHA registry, focusing on patients with HM diagnosed with CARV during the 2023-2024 autumn-winter season.

Immune checkpoint inhibitors-associated vasculitis: a heterogeneous condition with possible severe disease course.

Objective: To describe presentation, treatment and outcome of immune checkpoint inhibitor (ICI) associated-vasculitis in cancer patients in a multicentre study.

Methods: Thanks to the ImmunoCancer International Registry (ICIR), a multidisciplinary network focused on the research of the immune related adverse events related to cancer immunotherapies, patients presenting with a clinical and/or radiological suspicion of vasculitis, and histological evidence of vasculitis after being exposed to ICIs were retrospectively identified.

Results: Twenty eight cases were identified in the ICIR registry.

Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis.

Background: The usefulness of current diagnostic approaches in children with suspected autoimmune encephalitis is unknown. We aimed to assess the diagnosis of autoimmune encephalitis in clinical practice and to compare the performance of two international diagnostic algorithms (one intended for patients of any age [general], the other intended for paediatric patients), with particular emphasis on the evaluation of patients with probable antibody-negative autoimmune encephalitis because this diagnosis suggests that immunotherapy should be continued or escalated but is difficult to establish.

Methods: We did a prospective cohort study that included all patients (<18 years of age) with suspected autoimmune encephalitis recruited at 40 hospitals in Spain whose physicians provided clinical information every 6 months for 2 years or more.

Technological Innovations to Support Family Caregivers: A Scoping Review.

Introduction: Population aging increases the risk of dependency among older adults, which in turn necessitates care, primarily provided by family caregivers. This situation leads to physical and emotional strain on these caregivers. New technologies, such as tele-education, digital platforms, or mobile applications, can offer an accessible and equitable alternative for caregiver training and self-care support.

Parental Assessment of Infantile Hemangioma Cosmetic Clinical Outcomes: Results of the Spanish Hemangioma Nationwide Prospective Cohort.

Background: Functional impairment is the main consideration when it comes to choosing therapy for infantile hemangiomas (IH). However, since most hemangiomas are treated for cosmetic reasons, it is important to know the cosmetic outcome assessed by the parents.

Objective: To evaluate the aesthetic outcomes of IH, considering the characteristics of the lesions and the treatments used.

Alpelisib plus fulvestrant in PIK3CA-mutated, hormone receptor-positive advanced breast cancer after a CDK4/6 inhibitor (BYLieve): one cohort of a phase 2, multicentre, open-label, non-comparative study.

Background: Alpelisib, a PI3Kα-selective inhibitor and degrader, plus fulvestrant showed efficacy in hormone receptor-positive, HER2-negative, PIK3CA-mutated advanced breast cancer in SOLAR-1; limited data are available in the post-cyclin-dependent kinase 4/6 inhibitor setting. BYLieve aimed to assess alpelisib plus endocrine therapy in this setting in three cohorts defined by immediate previous treatment; here, we report results from cohort A.

Methods: This ongoing, phase 2, multicentre, open-label, non-comparative study enrolled patients with hormone receptor-positive, HER2-negative, advanced breast cancer with tumour PIK3CA mutation, following progression on or after previous therapy, including CDK4/6 inhibitors, from 114 study locations (cancer centres, medical centres, university hospitals, and hospitals) in 18 countries worldwide.

Impact of Radiation Dose on the Survival of Patients With Non-small Cell Lung Cancer Treated With Palliative Intent: Results of a Multicenter Prospective Study.

Background/aim: Many patients with non-small cell lung cancer (NSCLC) receive palliative radiotherapy (RT). Several factors were analyzed to aid in prescribing an optimal treatment for these patients.

Patients And Methods: This prospective observational multicenter study investigated several potential factors for associations with overall survival (OS) in 61 patients with NSCLC receiving palliative RT with or without chemotherapy (CT).

Relevance of recurrent venous thromboembolism according to location of metastasis in patients with cancer-associated thrombosis. A cohort study.

Background: Risk of VTE recurrence (VTEr) in patients with cancer-associated thrombosis (CAT) is high. Cancer-related risk factors for VTEr have been studied, but information about the importance of location of metastasis is scarce.

Objectives: 1) Evaluate rate of VTEr in CAT patients according to location of metastasis, and 2) Identify variables associated to VTEr during long-term follow-up.

Perioperative assessment of colorectal anastomoses with flexible endoscopy.

Flexible sigmoidoscopy has emerged as a vital tool for the purpose of assessing colorectal anastomoses: a procedure that can play a crucial role in reducing postoperative complications. The present technical note aims at describing a comprehensive strategy for the perioperative evaluation of colorectal anastomoses integrity. An endoscopic grading system is utilized to categorize findings, ensuring consistency and external validity.