Biomarkers.

Background: GRN mutations are a common cause of frontotemporal dementia (FTD), with previous studies linking granulin deficiency to reduced bis(monoacylglycerol)phosphate (BMP) levels, which ultimately impairs ganglioside degradation. BMP is involved in the lysosomal functions within cells, as it facilitates the adhesion of hydrolases and activator proteins where the lysosomal membranes meet, therefore a lack of BMP could impact lysosome function and integrity. We hypothesised that urine levels of BMP isoforms will be lower in FTD patients with GRN haploinsufficiency, as a reflection of reduced BMP in neural tissues, when compared to those with FTD caused by C9orf72 expansions and MAPT mutations, or healthy controls.

Biomarkers.

Transactive response DNA-binding protein 43 (TDP-43) has emerged as a pivotal player in neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and the recently described limbic-predominant age-related TDP-43 encephalopathy (LATE). Detecting TDP-43 pathology in a minimally invasive manner is crucial for early diagnosis, monitoring disease progression and the assessment of therapeutic interventions. This talk explores recent advancements in the discovery and validation of novel biofluid measures aimed at detecting and characterising TDP-43 pathology.

A scalable and transparent data pipeline for AI-enabled health data ecosystems.

Introduction: Transparency and traceability are essential for establishing trustworthy artificial intelligence (AI). The lack of transparency in the data preparation process is a significant obstacle in developing reliable AI systems which can lead to issues related to reproducibility, debugging AI models, bias and fairness, and compliance and regulation. We introduce a formal data preparation pipeline specification to improve upon the manual and error-prone data extraction processes used in AI and data analytics applications, with a focus on traceability.

Dupilumab treatment in paediatric atopic dermatitis (2-18 years): Spanish multicentre retrospective real-world study.

Background: Moderate-to-severe atopic dermatitis (AD) can be difficult to manage in paediatric patients, and there are few licensed treatments available for this age group. Dupilumab is approved for the treatment of AD in children older than 6 months.

Objectives: To assess the effectiveness and safety of dupilumab in a real-world cohort of paediatric patients with AD in Spain.

Deciphering the impact of STAT3 activation mediated by PTPRT promoter hypermethylation as biomarker of response to paclitaxel-plus-cetuximab in patients with recurrent or metastatic squamous cell carcinoma of the head and neck.

Background: Squamous cell carcinoma of the head and neck (SCCHN) is an aggressive disease with poor prognosis. It is known that the activation of STAT3 signaling pathways promotes the development and progression of this neoplasia and it has been described the role of PTPRT as a negative regulator of STAT3. Then, we have evaluated the impact of them as biomarkers of outcome in a series of patients with recurrent and/or metastatic SCCHN treated with weekly paclitaxel-plus-cetuximab (ERBITAX) regimen.

Changes In Serum CXCL13 Levels Are Associated With Outcomes of Colorectal Cancer Patients Undergoing First-Line Oxaliplatin-Based Treatment.

Metastatic colorectal cancer (mCRC) currently lacks reliable biomarkers for precision medicine, particularly for chemotherapy-based treatments. This study examines the behavior of 11 CXC chemokines in the blood of 104 mCRC patients undergoing first-line oxaliplatin-based treatment to pinpoint predictive and prognostic markers. Serum samples were collected before treatment, at response evaluation (EVAR), and at disease progression or last follow-up.

Elderly patients with hormone receptor-positive HER2-negative metastatic breast cancer treated with CDK4/6 inhibitors in a multicentre cohort.

Introduction: Cyclin-dependent kinases 4/6 inhibitors (CDK 4/6i) combined with endocrine therapy have become the gold standard in hormone receptor-positive (HR +) HER2-negative (HER2-) metastatic breast cancer (MBC). However, there is a significant lack of data regarding the efficacy and safety of these treatments in elderly patients. We present the results of a real-world data (RWD) cohort stratified by age at treatment initiation (≥ 70 years compared to patients < 70 years).

Non-family Living Arrangements Among Young Adults in the United States.

The share of young adults living in married-couple family households in the USA has declined in recent decades. Research on alternative living arrangements focuses on cohabitation among unmarried couples and parent-adult child coresidence. Less is known about trends in non-family living arrangements and the characteristics of young adults living with non-relatives.

The C250T Mutation of Might Grant a Better Prognosis to Glioblastoma by Exerting Less Biological Effect on Telomeres and Chromosomes Than the C228T Mutation.

Unlabelled: The aim of this study was to determine how mutations impact glioblastoma prognosis.

Materials And Methods: mutations were assessed in a retrospective cohort of 258 uniformly treated glioblastoma patients. RNA-sequencing and whole exome sequencing results were available in a subset of patients.

A Gadolinium(III) Complex Based on Pyridoxine Molecule with Single-Ion Magnet and Magnetic Resonance Imaging Properties.

Pyridoxine (pyr) is a versatile molecule that forms part of the family of B vitamins. It is used to treat and prevent vitamin B deficiency and certain types of metabolic disorders. Moreover, the pyridoxine molecule has been investigated as a suitable ligand toward metal ions.

HLA-I levels correlate with survival outcomes in response to immune checkpoint inhibitors in non-small cell lung cancer.

Objectives: Immune checkpoint inhibitors (ICIs) have provided a breakthrough in the treatment of non-small cell lung cancer (NSCLC) patients, but only some patients benefit substantively. Identifying definitive predictive biomarkers could overcome this limitation.

Materials And Methods: We selected 146 metastatic NSCLC patients treated with anti-PD-(L)1.

Biological basis of extensive pleiotropy between blood traits and cancer risk.

Background: The immune system has a central role in preventing carcinogenesis. Alteration of systemic immune cell levels may increase cancer risk. However, the extent to which common genetic variation influences blood traits and cancer risk remains largely undetermined.

CORESIDENCE: National and subnational data on household size and composition around the world, 1964-2021.

The CORESIDENCE Database (CoDB) represents a significant advancement in the field of family studies, addressing existing data gaps and facilitating comprehensive analysis of households' composition and living arrangements at the national and subnational levels. This article introduces the CoDB, developed for the ERC project Intergenerational Coresidence in Global Perspective: Dimensions of Change. The database draws on global-scale individual microdata from four main repositories and national household surveys, encompassing over 150 million individual records representing more than 98% of the world's population.

Real-world treatment outcomes of immune checkpoint inhibitors used off-label in oncology: A comprehensive cancer institution experience.

Off-label use (OLU) is quite common in oncology due to the complexity of cancer and the time-consuming regulatory process. However, outcomes of OLU in cancer treatment remain unclear. This study aimed to evaluate the overall survival (OS), event-free survival (EFS), duration of treatment (DOT), and reason for treatment discontinuation in patients receiving immune checkpoint inhibitors (ICI) as OLU for solid tumors from 2011 to 2020.

Development and validation of an image biomarker to identify metabolic dysfunction associated steatohepatitis: MR-MASH score.

Background And Aims: Diagnosis of metabolic dysfunction-associated steatohepatitis (MASH) requires histology. In this study, a magnetic resonance imaging (MRI) score was developed and validated to identify MASH in patients with metabolic dysfunction-associated steatotic liver disease (MASLD). Secondarily, a screening strategy for MASH diagnosis was investigated.

Prognostic value of haematological parameters and [F]FDG PET/CT metabolic parameters in head and neck cancer.

Aim: To determine the usefulness of neutrophil/lymphocyte (N/L) and platelet/lymphocyte (P/L) ratios as well as quantitative [F]FDG PET/CT parameters as prognostic factors for overall survival (OS), cancer-specific survival (CSS) and progression-free survival (PFS) in patients with head and neck squamous cell carcinoma (HyN).

Material And Methods: Sixty-six patients (56 men) diagnosed with HyN carcinoma were retrospectively assessed over an 8-year interval. Maximum SUV (SUV), metabolic tumour volume (MTV) and total lesion glycolysis (TLG) parameters were determined from the PET/CT study at diagnosis.

Brain network functional connectivity changes in patients with anterior knee pain: a resting-state fMRI exploratory study.

Background: This study investigates the functional brain connectivity in patients with anterior knee pain (AKP). While biomechanical models are frequently employed to investigate AKP, it is important to recognize that pain can manifest even in the absence of structural abnormalities. Leveraging the capabilities of functional magnetic resonance imaging (fMRI), this research aims to investigate the brain mechanisms present in AKP patients.

SAMHD1 expression is a surrogate marker of immune infiltration and determines prognosis after neoadjuvant chemotherapy in early breast cancer.

Purpose: The lack of validated surrogate biomarkers is still an unmet clinical need in the management of early breast cancer cases that do not achieve complete pathological response after neoadjuvant chemotherapy (NACT). Here, we describe and validate the use of SAMHD1 expression as a prognostic biomarker in residual disease in vivo and in vitro.

Methods: SAMHD1 expression was evaluated in a clinical cohort of early breast cancer patients with stage II-III treated with NACT.

Pancreatic steatosis and iron overload increases cardiovascular risk in non-alcoholic fatty liver disease.

Objective: To assess the prevalence of pancreatic steatosis and iron overload in non-alcoholic fatty liver disease (NAFLD) and their correlation with liver histology severity and the risk of cardiometabolic diseases.

Method: A prospective, multicenter study including NAFLD patients with biopsy and paired Magnetic Resonance Imaging (MRI) was performed. Liver biopsies were evaluated according to NASH Clinical Research Network, hepatic iron storages were scored, and digital pathology quantified the tissue proportionate areas of fat and iron.

Prognostic Role of Neutrophil, Monocyte and Platelet to Lymphocyte Ratios in Advanced Ovarian Cancer According to the Time of Debulking Surgery.

Despite a multimodal radical treatment, mortality of advanced epithelial ovarian cancer (AEOC) remains high. Host-related factors, such as systemic inflammatory response and its interplay with the immune system, remain underexplored. We hypothesized that the prognostic impact of this response could vary between patients undergoing primary debulking surgery (PDS) and those undergoing interval debulking surgery (IDS).

Real-world treatment outcomes of medicines used in special situations (off-label and compassionate use) in oncology and hematology: A retrospective study from a comprehensive cancer institution.

Purpose: Medicines in special situations (MSS) refer to off-label or to unlicensed drugs under investigation (compassionate use). Our objectives were to evaluate characteristics and to estimate overall survival (OS), event-free survival (EFS), and the duration of treatment (DT) of MSS used for cancer treatment at a multicentre comprehensive cancer institution.

Methods: Retrospective cohort study on adult cancer patients for whom an MSS treatment was requested (January 2011-December 2020).

Perspectives on medical 3D printing at the point-of-care from the new European 3D Printing Special Interest Group.

This editorial presents the vision for the newly formed (2022) European 3D Special Interest Group (EU3DSIG) in the landscape of medical 3D printing. There are four areas of work identified by the EU3DSIG in the current landscape, namely: 1) creating and fostering communication channels among researches, clinicians and industry, 2) generating awareness of hospitals point-of-care 3D technologies; 3) knowledge sharing and education; 4) regulation, registry and reimbursement models.

Initial stage of titanium oxidation in Ti/CuO thermites: a molecular dynamics study using ReaxFF forcefields.

The paper elucidates the main driving mechanisms at play during the early stage of the Ti/CuO thermite reaction using reactive forcefields in the frame of molecular dynamics calculations. Results show that TiO preferentially forms in immediate contact to pure Ti at temperatures as low as 200 K rather than TiO. Increasing the temperature to 700 K, the 2 nm TiO in contact to Ti is found to be homogeneously depleted from half of its oxygen atoms.