Somatic mutations and DNA methylation identify a subgroup of poor prognosis within lower-risk myelodysplastic syndromes.

Lower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.

Medical researchers' perception of sharing of metadata from case report forms.

Introduction: Publishing medical metadata stored in case report forms (CRFs) is a prerequisite for the development of a learning health system (LHS) by fostering reuse of metadata and standardization in health research. The aim of our study was to investigate medical researchers' (MRs) willingness to share CRFs, to identify reasons for and against CRF sharing, and to determine if and under which conditions MRs might consider sharing CRF metadata via a public registry.

Methods: We examined CRF data sharing commitments for 1842 interventional trials registered on the German Clinical Trials Registry (DRKS) from January 1, 2020, to December 31, 2021.

Correction: Bouchard et al. A Multisite Non-Inferiority Randomized Controlled Trial of the Efficacy of Cognitive-Behavior Therapy for Generalized Anxiety Disorder Delivered by Videoconference. 2022, , 5924.

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Socioeconomic and demographic factors influencing interpersonal communication between patients with chronic conditions and family physicians: A systematic review.

Objective: This systematic review assessed the socioeconomic and demographic factors influencing interpersonal communication between family physicians and patients with chronic diseases.

Methods: We searched three databases (Embase, MEDLINE, and Cochrane) for published empirical studies reporting interpersonal communication between adults with chronic conditions and their family physicians. Gender, sex, race or ethnicity, low levels of literacy and/or health knowledge, and lower level of education or income were the factors of interest.

Accelerated Testing of PEI-Silica Sorbent Pellets for Direct Air Capture.

Amine-based sorbents have shown exceptional CO uptake for direct air capture (DAC). However, amine degradation is a major issue for this class of materials, hindering their deployment for large-scale DAC. In this study, a comprehensive evaluation of polyethylenimine (PEI) sorbents was conducted to understand their degradation under process-relevant environments for the DAC of CO.

Single-cell transcriptomics link gene expression signatures to clinicopathological features of gonadotroph and lactotroph PitNET.

Background: Pituitary neuroendocrine tumors (PitNET) are among the most common intracranial tumors. Despite a frequent benign course, aggressive behavior can occur. Tumor behavior is known to be under the influence of the tumor microenvironment (TME).

Employment, work ability and sick leave in melanoma patients within the first year of diagnosis.

Background And Objectives: Malignant melanoma affects younger working individuals. This study investigated work ability and sick leave within one year after diagnosis, as well as the impact of rehabilitation and psycho-oncological measures on employment outcomes.

Patients And Methods: In this monocentric, prospective, observational cohort study, 221 patients (62.

Connected and supported: a scoping review of how online communities provide social support for breast cancer survivors.

Purpose: To (i) assess how and to what extent online communities are used among breast cancer survivors (BCS) as a source of social support, (ii) describe the kind of support BCS access through online communities, and (iii) explore how these communities foster social support for BCS that promotes well-being and reduces the challenges of survivorship.

Methods: We conducted a scoping review. A professional librarian performed a comprehensive search in multiple databases from January 2010 to May 2023.

Astrocytes and the tumor microenvironment inflammatory state dictate the killing of glioblastoma cells by Smac mimetic compounds.

Smac mimetic compounds (SMCs) are small molecule drugs that sensitize cancer cells to TNF-α-induced cell death and have multiple immunostimulatory effects through alterations in NF-κB signaling. The combination of SMCs with immunotherapies has been reported to result in durable cures of up to 40% in syngeneic, orthotopic murine glioblastoma (GBM) models. Herein, we find that SMC resistance is not due to a cell-intrinsic mechanism of resistance.

Evaluation of technical approaches for real-time data transfer from electronic health record systems.

Background And Objective: Real-time data (RTD) are data that are delivered immediately after creation. The key feature of RTD is low delivery latency. Information systems in health care are extremely time-sensitive and their building block is the electronic health record (EHR).

Phenotyping peripheral neuropathies with and without pruritus: a cross-sectional multicenter study.

Pruritus often escapes physicians' attention in patients with peripheral neuropathy (PNP). Here we aimed to characterize neuropathic pruritus in a cohort of 191 patients with PNP (large, mixed, or small fiber) and 57 control subjects with deep phenotyping in a multicenter cross-sectional observational study at 3 German sites. All participants underwent thorough neurological examination, nerve conduction studies, quantitative sensory testing, and skin biopsies to assess intraepidermal nerve fiber density.

Europe's Largest Research Infrastructure for Curated Medical Data Models with Semantic Annotations.

Background: Structural metadata from the majority of clinical studies and routine health care systems is currently not yet available to the scientific community.

Objective: To provide an overview of available contents in the Portal of Medical Data Models (MDM Portal).

Methods: The MDM Portal is a registered European information infrastructure for research and health care, and its contents are curated and semantically annotated by medical experts.

Epigenetic control over the cell-intrinsic immune response antagonizes self-renewal in acute myeloid leukemia.

Epigenetic modulation of the cell-intrinsic immune response holds promise as a therapeutic approach for leukemia. However, current strategies designed for transcriptional activation of endogenous transposons and subsequent interferon type-I (IFN-I) response, show limited clinical efficacy. Histone lysine methylation is an epigenetic signature in IFN-I response associated with suppression of IFN-I and IFN-stimulated genes, suggesting histone demethylation as key mechanism of reactivation.

Integration of Patient-Reported Outcome Data Collected Via Web Applications and Mobile Apps Into a Nation-Wide COVID-19 Research Platform Using Fast Healthcare Interoperability Resources: Development Study.

Background: The Network University Medicine projects are an important part of the German COVID-19 research infrastructure. They comprise 2 subprojects: COVID-19 Data Exchange (CODEX) and Coordination on Mobile Pandemic Apps Best Practice and Solution Sharing (COMPASS). CODEX provides a centralized and secure data storage platform for research data, whereas in COMPASS, expert panels were gathered to develop a reference app framework for capturing patient-reported outcomes (PROs) that can be used by any researcher.

Methods used to account for caregivers' sex and gender within studies examining the financial burden of caregivers of children and adolescents : Results from a scoping review.

Background: Interest in the financial burden of informal caregivers has been growing. Unfortunately, it remains unclear which method(s) should be used when quantifying this burden.

Purpose: We conducted a scoping review aimed at identifying which methods have been used to conduct such work and quantified their performance.

OMERACT Core outcome measurement set for shared decision making in rheumatic and musculoskeletal conditions: a scoping review to identify candidate instruments.

Objectives: Shared decision making (SDM) is a central tenet in rheumatic and musculoskeletal care. The lack of standardization regarding SDM instruments and outcomes in clinical trials threatens the comparative effectiveness of interventions. The Outcome Measures in Rheumatology (OMERACT) SDM Working Group is developing a Core Outcome Set for trials of SDM interventions in rheumatology and musculoskeletal health.

Next-generation study databases require FAIR, EHR-integrated, and scalable Electronic Data Capture for medical documentation and decision support.

Structured patient data play a key role in all types of clinical research. They are often collected in study databases for research purposes. In order to describe characteristics of a next-generation study database and assess the feasibility of its implementation a proof-of-concept study in a German university hospital was performed.

Comparison of VOmax Estimations for Maximal and Submaximal Exercise Tests in Apparently Healthy Adults.

Due to limited accessibility, direct measurement of VOmax is rarely performed in clinical settings or sports centers. As a result, regression equations have been developed and are currently used during exercise tests to provide an indirect estimation. The American College of Sports Medicine (ACSM) has recommended a regression equation for running to provide an indirect estimation of VO.

Perinatal morbidity among women with a previous caesarean delivery (PRISMA trial): a cluster-randomised trial.

Background: Women with a previous caesarean delivery face a difficult choice in their next pregnancy: planning another caesarean or attempting vaginal delivery, both of which are associated with potential maternal and perinatal complications. This trial aimed to assess whether a multifaceted intervention, which promoted person-centred decision making and best practices, would reduce the risk of major perinatal morbidity among women with one previous caesarean delivery.

Methods: We conducted an open, multicentre, cluster-randomised, controlled trial of a multifaceted 2-year intervention in 40 hospitals in Quebec among women with one previous caesarean delivery, in which hospitals were the units of randomisation and women the units of analysis.

Narcissistic dimensions and depressive symptoms in patients across mental disorders in cognitive behavioural therapy and in psychoanalytic interactional therapy in Germany: a prospective cohort study.

Background: Narcissistic personality traits have been theorised to negatively affect depressive symptoms, therapeutic alliance, and treatment outcome, even in the absence of narcissistic personality disorder. We aimed to examine how the dimensional narcissistic facets of admiration and rivalry affect depressive symptoms across treatment modalities in two transdiagnostic samples.

Methods: We did a naturalistic, observational prospective cohort study in two independent adult samples in Germany: one sample pooled from an inpatient psychiatric clinic and an outpatient treatment service offering cognitive behavioural treatment (CBT), and one sample from an inpatient clinic providing psychoanalytic interactional therapy (PIT).

Active learning for extracting surgomic features in robot-assisted minimally invasive esophagectomy: a prospective annotation study.

Background: With Surgomics, we aim for personalized prediction of the patient's surgical outcome using machine-learning (ML) on multimodal intraoperative data to extract surgomic features as surgical process characteristics. As high-quality annotations by medical experts are crucial, but still a bottleneck, we prospectively investigate active learning (AL) to reduce annotation effort and present automatic recognition of surgomic features.

Methods: To establish a process for development of surgomic features, ten video-based features related to bleeding, as highly relevant intraoperative complication, were chosen.

Germ line variant GFI1-36N affects DNA repair and sensitizes AML cells to DNA damage and repair therapy.

Growth factor independence 1 (GFI1) is a DNA-binding transcription factor and a key regulator of hematopoiesis. GFI1-36N is a germ line variant, causing a change of serine (S) to asparagine (N) at position 36. We previously reported that the GFI1-36N allele has a prevalence of 10% to 15% among patients with acute myeloid leukemia (AML) and 5% to 7% among healthy Caucasians and promotes the development of this disease.