Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients. A multicenter study by EBMT IEWP.

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

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.

Resuscitative endovascular balloon occlusion of the aorta for trauma patients with uncontrolled hemorrhage: a retrospective target trial emulation (the AT-REBOA target trial).

Background: Noncompressible truncal hemorrhage is a major contributor to preventable deaths in trauma patients and, despite advances in emergency care, still poses a big challenge.

Objectives: This study aimed to assess the clinical efficacy of trauma resuscitation care incorporating Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA) compared to standard care for managing uncontrolled torso or lower body hemorrhage.

Methods: This study utilized a target trial design with a matched case-control methodology, emulating randomized 1 : 1 allocation for patients receiving trauma resuscitation care with or without the use of REBOA.

- a large-scale dataset of 3D medical shapes for computer vision.

Objectives: The shape is commonly used to describe the objects. State-of-the-art algorithms in medical imaging are predominantly diverging from computer vision, where voxel grids, meshes, point clouds, and implicit surface models are used. This is seen from the growing popularity of ShapeNet (51,300 models) and Princeton ModelNet (127,915 models).

Is human oversight to AI systems still possible?

The rapid proliferation of artificial intelligence (AI) systems across diverse domains raises critical questions about the feasibility of meaningful human oversight, particularly in high-stakes domains such as new biotechnology. As AI systems grow increasingly complex, opaque, and autonomous, ensuring responsible use becomes a formidable challenge. During our editorial work for the special issue "Artificial Intelligence for Life Sciences", we placed increasing emphasis on the topic of "human oversight".

Successful Aging across Middle vs High-Income Countries: An Analysis of the Role of eHealth Literacy Associated with Loneliness and Wellbeing.

Background And Objectives: "Successful aging" concerns the process of growing older while maintaining physical, cognitive, and social wellbeing, emphasizing independence for overall satisfaction and quality of life. We investigate the impact of e-health literacy on reducing loneliness and sustaining wellbeing during the pandemic, comparing middle- and high-income countries.

Research Design And Methods: Online surveys were conducted between April 4, 2020, and September 30, 2021, collecting responses (N=2091) from medium- and high-income countries in Europe, Asia, and North America.

Patients' and health professionals' perspectives regarding shared decision making in the psychiatric inpatient setting - A multiple qualitative case study.

Objective: Shared decision-making is one promising approach to promoting recovery and person-centred care but seems challenging for implementation in clinical practice. This study aimed to explore how patients and health professionals experience shared decision-making and its facilitators and barriers.

Methods: A multiple qualitative case study design was chosen, using a constant comparative method.

The Use of the Facial Sinus Wall as Bone Shell Onlay Graft for Maxillary Posterior Ridge Reconstruction: A Retrospective Case Series.

Purpose: To evaluate the performance and clinical outcome of vertical and horizontal bone augmentation (VHBA) in posterior maxillary regions combining lateral window sinus floor elevation (LWSFE) with a horizontal bone shell technique applying the maxillary facial sinus wall as a bone plate.

Materials And Methods: In 18 patients, LWSFE was combined with a horizontal bone shield augmentation procedure utilizing the maxillary facial sinus bone wall as a lateral bone plate. Both the sinus cavity and the lateral bone box created were grafted with a mixture of autogenous bone/venous blood and bovine bone mineral.

An international study of clinical, demographic, and competence-related determinants of communication with professionals.

Purpose: This study aims to identify a combination of clinical, demographic, and patient competence determinants of patients' communication with doctors and nurses in an international sample of cancer patients.

Methods: For our cross-sectional study, cancer patients assessed their communication with their doctors or nurses at the start of their treatment. Patients completed EORTC communication questionnaire QLQ-COMU26 to assess ten areas of communication with their doctor or nurses plus another item to assess how competent they felt when communicating with professionals.

Influence of magnetic convection on separation efficiency in magnetophoretic microfluidic processes: a combined simulation and experimental study.

This work explores the complex hydrodynamics in magnetophoretic microfluidic processes, focusing on the interplay of forces and particle concentrations. The study employs a combined simulation and experimental approach to investigate the impact of magnetophoresis on magneto-responsive nanoparticles (MNPs) and their environment, including non-magneto-responsive nanoparticles (non-MNPs) in a microfluidic system. Our findings reveal that the motion of MNPs induces a hydrodynamic convective motion of non-MNPs, significantly affecting the separation efficiency and purity of the particles.

Evaluation of the advanced air mobility potential for organ transplantation in Austria and Germany.

Solid organ transplantation continues to be the only or most efficient therapeutic solution for several end-stage diseases. The success of such transplantation is largely dependent on the swift transportation of organs from donors to recipients, as Cold Ischemia Time (CIT) plays a critical role in determining the recipient's medical outcome. This study explores the potential of Advanced Air Mobility (AAM) in the context of organ transplantation in Austria and Germany.

Tigecycline Containing Polymethylmethacrylate Cement Against MRSA, VRE, and ESBL-In Vitro Mechanical and Microbiological Investigations.

Background: The use of antibiotic-loaded bone cements (ALBCs) in arthroplasty has been well established for the prevention and treatment of infections. Tigecycline (Tig), a broad-spectrum antibiotic, has shown efficacy against various pathogens, including vancomycin-resistant strains.

Method: ISO and DIN mechanical and microbiological inhibition zone tests were performed on PMMA cement with manually added Tigecycline.

Psychological Mediators of the Association between Obesity and Symptoms of Depression, Anxiety, and Stress.

Introduction: There is still paucity of knowledge about which factors can mediate the link between obesity and mental health problems. This study aimed to investigate psychological mediators of the association between different weight profiles (healthy, overweight, and obesity) and symptoms of depression, anxiety, and stress.

Methods: A sample of 407 adults (≥18 years old) with different weight profiles recruited from general population was assessed for symptoms of depression, anxiety, and stress, and dimensions of emotion regulation and body investment/body image.

A Latent Cardiomyocyte Regeneration Potential in Human Heart Disease.

Background: Cardiomyocytes in the adult human heart show a regenerative capacity, with an annual renewal rate of ≈0.5%. Whether this regenerative capacity of human cardiomyocytes is employed in heart failure has been controversial.

Sacroiliac joint auricular surface morphology modulates its mechanical environment.

The sacroiliac joint (SIJ) exhibits significant variation in auricular surface morphology. This variation influences the mechanics of the SIJ, a central node for transmitting mechanical energy from upper body to lower limbs and vice versa. The impact of the auricular surface morphology on stress and deformation in the SIJ remains poorly understood to date.

Novel antimicrobial coating for hernia meshes.

Purpose: Antibiotic coating for several medical devices has been carried out; however, there are only few studies about coating hernia meshes with antimicrobial substances. In this study we checked the capacity of different commercially available hernia meshes to act as drug carrier.

Methods: The meshes were coated with gentamicin palmitate, chlorhexidine palmitic acid and chlorhexidine palmitate.

Cement Viscosity and Application Time Lead to Significant Changes in Cement Penetration and Contact Surface Area.

Background: Application time and viscosity are factors that can significantly affect the properties of bone cement and implant fixation. The aim of this study was to investigate the influence of different application times of 2 different cements on mechanical parameters, cement interdigitation, and cement distribution.

Methods: P.