Evaluation of RMplex system for differentiating father-son pairs using Y-STRs in a Korean population.

Y-chromosomal short tandem repeats (Y-STRs) at rapidly mutating (RM) loci have been suggested as tools for differentiating paternally related males. RMplex is a recently developed system that incorporates 26 RM loci and four fast-mutating (FM) loci, targeting 44 male-specific loci. Here, we evaluated the RMplex by estimating Y-STR mutation rates and the overall differentiation rates for 542 Korean father-son pairs, as well as the genetic population values for 409 unrelated males.

Getting back on track after treatment of cancer: A qualitative interview study of cancer survivors' experiences.

Objective: An increasing number of people resumes life after cancer treatment. Although the (long-term) side-effects of cancer and its treatment can be significant, less is known about the impact on cancer survivors' participation in daily life. The aim of this study was to explore the common experiences of cancer survivors in resuming life after treatment.

Recruitment, follow-up and survival in an 11-country cohort study of patients at the end of life and their relatives.

Background: Large, international cohort studies generate high-level evidence, but are resource intense. In end-of-life care such studies are scarce. Hence, planning for future studies in terms of data on screening, recruitment, retention and survival remains a challenge.

The Screening Tomosynthesis Trial with Advanced Reader Methods (STREAM): design and rationale of a population-based breast cancer screening trial.

Objectives: It is uncertain what the effects of introducing digital breast tomosynthesis (DBT) in the Dutch breast cancer screening programme would be on detection, recall, and interval cancers (ICs), while reading times are expected to increase. Therefore, an investigation into the efficiency and cost-effectiveness of DBT screening while optimising reading is required.

Materials And Methods: The Screening Tomosynthesis trial with advanced REAding Methods (STREAM) aims to include 17,275 women (age 50-72 years) eligible for breast cancer screening in the Netherlands for two biennial DBT screening rounds to determine the short-, medium-, and long-term effects and acceptability of DBT screening and identify an optimised strategy for reading DBT.

Navigating choices: understanding the decision-making journey of patients with localised kidney cancer.

Objective: To explore patients' experience of decision making regarding treatment of localised kidney cancer.

Methods: A total of 21 patients with localised kidney cancer, across three countries, participated in either four focus groups or seven semi-structured interviews that lasted on average 2 h. Focus groups and interviews were all conducted in the participants' native language, recorded, transcribed and (if applicable) translated into English.

Establishing reference curves for vital tissue perfusion using quantitative near-infrared fluorescence imaging with indocyanine green.

Purpose: Assessment of tissue perfusion using near-infrared fluorescence (NIR) with indocyanine green (ICG) is gaining popularity, however reliable and objective interpretation remains a challenge. Therefore, this study aimed to establish reference curves for vital tissue perfusion across target tissues using this imaging modality.

Methods: Data from five prospective study cohorts conducted in three Dutch academic medical centres between December 2018 and June 2023 was included.

Long-term mortality of Dutch COVID-19 patients admitted to the intensive care medicine: a retrospective analysis from a national quality registry.

Objective: To describe the 12-month mortality of Dutch COVID-19 intensive care unit patients, the total COVID-19 population and various subgroups on the basis of the number of comorbidities, age, sex, mechanical ventilation, and vasoactive medication use.

Methods: We included all patients admitted with COVID-19 between March 1, 2020, and March 29, 2022, from the Dutch National Intensive Care (NICE) database. The crude 12-month mortality rate is presented via Kaplan-Meier survival curves for each patient subgroup.

A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.

Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.

Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry.

Introduction: Cardiovascular disease is the commonest cause of death in Turner syndrome (TS) for which, arterial hypertension has a direct influence and is a key modifiable risk factor.

Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study).

Methods: Retrospective multi-centre observational study of patients aged ≥18 years, included in the I-TS (International-TS) registry (2020-2022) utilising registry and participating centre collected data.

A meta-analysis of epigenome-wide association studies of ultra-processed food consumption with DNA methylation in European children.

Background/objective: There is limited knowledge on how diet affects the epigenome of children. Ultra-processed food (UPF) consumption is emerging as an important factor impacting health, but mechanisms need to be uncovered. We therefore aimed to assess the association between UPF consumption and DNA methylation in children.

Elucidating Extracellular Vesicle Isolation Kinetics via an Integrated Off-Stoichiometry Thiol-Ene and Cyclic Olefin Copolymer Microfluidic Device.

Extracellular vesicles (EVs) are promising biomarkers for diagnosing complex diseases such as cancer and neurodegenerative disorders. Yet, their clinical application is hindered by challenges in isolating cancer-derived EVs efficiently due to their broad size distribution in biological samples. This study introduces a microfluidic device fabricated using off-stoichiometry thiol-ene and cyclic olefin copolymer, addressing the absorption limitations of polydimethylsiloxane (PDMS).

Added Value of Biological Effective Dose in Dosiomics-Based Modelling of Late Rectal Bleeding in Prostate Cancer.

Background/objectives: Extracting spatial features (texture analysis) from dose distributions (dosiomics) for outcome prediction is a rapidly evolving field in radiotherapy. To account for fraction size differences, the biological effective dose (BED) is often calculated. We evaluated the impact and added value of the BED in the dosiomics prediction modelling of grade ≥ 2 late rectal bleeding (LRB) probability within 5 years after treatment in three parts.

Two-Step Transfer Learning Improves Deep Learning-Based Drug Response Prediction in Small Datasets: A Case Study of Glioblastoma.

While deep learning (DL) is used in patients' outcome predictions, the insufficiency of patient samples limits the accuracy. In this study, we investigated how transfer learning (TL) alleviates the small sample size problem. A 2-step TL framework was constructed for a difficult task: predicting the response of the drug temozolomide (TMZ) in glioblastoma (GBM) cell cultures.

Joint EANM/EANO/RANO/SNMMI practice guideline/procedure standard for PET imaging of brain metastases: version 1.0.

This joint practice guideline/procedure standard was collaboratively developed by the European Association of Nuclear Medicine (EANM), the Society of Nuclear Medicine and Molecular Imaging (SNMMI), the European Association of Neuro-Oncology (EANO), and the PET task force of the Response Assessment in Neurooncology Working Group (PET/RANO). Brain metastases are the most common malignant central nervous system (CNS) tumors. PET imaging with radiolabeled amino acids and to lesser extent [F]FDG has gained considerable importance in the assessment of brain metastases, especially for the differential diagnosis between recurrent metastases and treatment-related changes which remains a limitation using conventional MRI.

Tract-specific white matter hyperintensities and neuropsychiatric syndromes: a multicentre memory clinic study.

Background: White matter hyperintensities (WMH) have been implicated in the pathogenesis of neuropsychiatric symptoms of dementia but the functional significance of WMH in specific white matter (WM) tracts is unclear. We investigate whether WMH burden within major WM fibre classes and individual WM tracts are differentially associated with different neuropsychiatric syndromes in a large multicentre study.

Method: Neuroimaging and neuropsychiatric data of seven memory clinic cohorts through the Meta VCI Map consortium were harmonised.

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

Oral Glucose-Lowering Agents vs Insulin for Gestational Diabetes: A Randomized Clinical Trial.

Importance: Metformin and glyburide monotherapy are used as alternatives to insulin in managing gestational diabetes. Whether a sequential strategy of these oral agents results in noninferior perinatal outcomes compared with insulin alone is unknown.

Objective: To test whether a treatment strategy of oral glucose-lowering agents is noninferior to insulin for prevention of large-for-gestational-age infants.

Evaluating hypothetical prevention strategies for internalizing symptoms in the general population and at-risk children.

Objective: Specific modifiable factors (e.g., screen time [ST], sleep duration, physical activity, or social connections) are targets for reducing depression risk in adults.

Replacement therapy in pregnant women with von Willebrand disease during delivery: Factor levels and pharmacokinetics.

Limited data are available on VWF activity (VWF:Act) and factor VIII (FVIII:C) levels during delivery after VWF/FVIII concentrate administration in women with von Willebrand disease (VWD). We aimed to evaluate treatment with a specific VWF/FVIII concentrate on factor levels in women with VWD during delivery and the postpartum period. A retrospective single-center study was conducted between January 1, 2008, and August 1, 2022.

Assessment of Coronary Microcirculation with High Frame-Rate Contrast-Enhanced Echocardiography.

Objective: Assessing myocardial perfusion in acute myocardial infarction is important for guiding clinicians in choosing appropriate treatment strategies. Echocardiography can be used due to its direct feedback and bedside nature, but it currently faces image quality issues and an inability to differentiate coronary macro- from micro-circulation. We previously developed an imaging scheme using high frame-rate contrast-enhanced ultrasound (HFR CEUS) with higher order singular value decomposition (HOSVD) that provides dynamic perfusion and vascular flow visualization.

Defining the optimal radiation-induced lymphopenia metric to discern its survival impact in esophageal cancer.

Background: A detrimental association between radiation-induced lymphopenia (RIL) and oncologic outcomes in esophageal cancer patients has been established. However, an optimal metric for RIL remains undefined, but is important for application of this knowledge in clinical decision-making and trial designs. The aim of this study was to find the optimal RIL metric discerning survival.

Feasibility of AI as first reader in the 4-IN-THE-LUNG-RUN lung cancer screening trial: impact on negative-misclassifications and clinical referral rate.

Background: Lung cancer screening (LCS) with low-dose CT (LDCT) reduces lung-cancer-related mortality in high-risk individuals. AI can potentially reduce radiologist workload as first-read-filter by ruling-out negative cases. The feasibility of AI as first reader was evaluated in the European 4-IN-THE-LUNG-RUN (4ITLR) trial, comparing its negative-misclassifications (NMs) to those of radiologists and the impact on referral rates.