Advancing the personalized advantage index (PAI): a systematic review and application in two large multi-site samples in anxiety disorders.

Background: The Personalized Advantage Index (PAI) shows promise as a method for identifying the most effective treatment for individual patients. Previous studies have demonstrated its utility in retrospective evaluations across various settings. In this study, we explored the effect of different methodological choices in predictive modelling underlying the PAI.

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.

Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has revolutionised treatment and outcome of this disorder. NTBC has to be combined with a low protein diet.

The cobalamin processing enzyme of Trichoplax adhaerens.

Cobalamin (Cbl) is an essential cofactor for methionine synthase (MS) and methylmalonyl-CoA mutase (MUT), but it must first undergo chemical processing for utilization in animals. In humans, this processing comprises β-axial ligand cleavage and Cbl reduction and is performed by the enzyme MMACHC (HsCblC). Although the functionality of CblC is well-understood in higher order organisms, little is known about the evolutionary origin of these enzymes and the reactivity of CblCs in lower-order organisms with unique environmental and cellular conditions.

Intra-operative and post-operative management of conduits for coronary artery bypass grafting: a clinical consensus statement of the European Society of Cardiology Working Group on Cardiovascular Surgery and the European Association for Cardio-Thoracic Surgery Coronary Task Force.

The structural and functional integrity of conduits used for coronary artery bypass grafting is critical for graft patency. Disruption of endothelial integrity and endothelial dysfunction are incurred during conduit harvesting subsequent to mechanical or thermal injury and during conduit storage prior to grafting, leading to acute thrombosis and early graft failure. Late graft failure, in particular that of vein grafts, is precipitated by progressive atherogenesis.

Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): An externally-controlled study.

Leniolisib, an oral, targeted phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, was well-tolerated and efficacious versus placebo in treating individuals with activated PI3Kδ syndrome (APDS), an ultra-rare inborn error of immunity (IEI), in a 12-week randomised controlled trial. However, longer-term comparative data versus standard of care are lacking. This externally controlled study compared the long-term effects of leniolisib on annual rate of respiratory tract infections and change in serum immunoglobulin M (IgM) levels versus current standard of care, using data from the leniolisib single-arm open-label extension study 2201E1 (NCT02859727) and the European Society for Immunodeficiencies (ESID) registry.

Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases.

Background: Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health teams. Modern dentistry encompasses a wide range of therapeutic options performed by specialists from different fields.

Immunological effects of CD19.CAR-T cell therapy in systemic sclerosis: an extended case study.

Objective: The high potential of CD19.CAR-T cells to treat autoimmune diseases such as Systemic Sclerosis (SSc) supposedly relies on the disappearance of autoantibodies. Here we investigated effects of CAR-T cells on the innate immune system which is an important contributor to pathology in SSc.

Human Genetic GLUT1 Deficiency Results in Impaired T Cellular IFN-γ Production.

GLUT1 deficiency prevents glucose uptake in T cells resulting in lower intracellular ATP generation and IFNy production.

Clinical updates of B‑cell maturation antigen‑targeted therapy in multiple myeloma (MM) and relapsed/refractory MM (Review).

Despite significant progress in managing multiple myeloma (MM) in recent years, certain patients still have a short duration of therapeutic response, often relapsing within 18 months. These patients typically have high‑risk genetic mutations and may show little to no response to current treatments, highlighting the need for further exploration of optimal therapeutic targets for MM. B‑cell maturation antigen (BCMA), highly expressed in mature B lymphocytes and plasma cells and upregulated in MM, is a promising therapeutic target.

Tumor sequencing before and after neoadjuvant chemoradiotherapy in locally advanced rectal cancer: Genetic tumor characterization and clinical outcome.

Background And Purpose: Neoadjuvant chemoradiotherapy (NCRT) is a standard treatment option for locally advanced rectal cancer. However, there is still conflicting data about the genetic landscape and potential dynamics during and after NCRT. This study evaluated oncogenic driver mutations before NCRT and investigated corresponding resection samples after treatment.

The influence of electrode array design, scalar dislocation and insertion technique on postoperative vertigo in CI surgery - a prospective study.

Objectives: This study aimed to examine the effect of electrode array design, insertion angle, scalar position, and insertion technique on the occurrence of postoperative subjective vertigo following cochlear implant (CI) surgery using questionnaires in conjunction with objective vestibular functional measurements.

Materials And Methods: We prospectively evaluated subjective vertigo using the Dizziness Handicap Inventory (DHI). Additionally, we performed videonystagmography, video head-impulse tests, and vestibular-evoked myogenic potentials to assess the objective vestibular function preoperatively, at four weeks and 12 months after CI.

Intra-individual Differences in Pericoronary Fat Attenuation Index Measurements Between Photon-counting and Energy-integrating Detector Computed Tomography.

Rationale And Objectives: The purpose of this study was to explore intra-individual differences in pericoronary adipose tissue (PCAT) fat attenuation index (FAI) between photon-counting detector (PCD)- and energy-integrating detector (EID)-CT.

Material And Methods: Patients were prospectively enrolled for a PCD-CT research scan within 30 days of EID-CT. Both acquisitions were reconstructed using a Qr36 kernel at 0.

EOMES establishes mesoderm and endoderm differentiation potential through SWI/SNF-mediated global enhancer remodeling.

Mammalian pluripotent cells first segregate into neuroectoderm (NE), or mesoderm and endoderm (ME), characterized by lineage-specific transcriptional programs and chromatin states. To date, the relationship between transcription factor activities and dynamic chromatin changes that guide cell specification remains ill-defined. In this study, we employ mouse embryonic stem cell differentiation toward ME lineages to reveal crucial roles of the Tbx factor Eomes to globally establish ME enhancer accessibility as the prerequisite for ME lineage competence and ME-specific gene expression.

Climbing the longevity pyramid: overview of evidence-driven healthcare prevention strategies for human longevity.

Longevity medicine is an emerging and iterative healthcare discipline focusing on early detection, preventive measures, and personalized approaches that aim to extend healthy lifespan and promote healthy aging. This comprehensive review introduces the innovative concept of the "." This conceptual framework delineates progressive intervention levels, providing a structured approach to understanding the diverse strategies available in longevity medicine.

Sex-specific NLRP3 activation in neutrophils promotes neutrophil recruitment and NETosis in the murine model of diffuse alveolar hemorrhage.

Objectives: Diffuse alveolar hemorrhage (DAH) is a life-threatening complication of systemic lupus erythematosus and small vessel vasculitis. We previously showed that neutrophil extracellular traps (NETs) were associated with the pathogenesis of pristane-induced DAH and demonstrated that neutrophil NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome assembly participated in NET generation under sterile stimulation. We investigated whether NLRP3 inflammasome assembly in neutrophils may drive pulmonary NETosis in a mouse model of pristane-induced DAH.

Analysis of skin and corneal fiber electrodes for electroretinogram assessments in patients with major depressive disorder.

Background: Electroretinograms (ERG) are usually recorded with non-invasive corneal electrodes, requiring direct contact with the ocular surface. However, corneal electrode application is not tolerated by some individuals. The advent of handheld ERG devices has facilitated the use of skin electrodes for ERG measurements.

Beneficial microbiome and diet interplay in early-onset colorectal cancer.

Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the second leading cause of cancer-related deaths worldwide. Although the risk of developing CRC increases with age, approximately 10% of newly diagnosed cases occur in individuals under the age of 50. Significant changes in dietary habits in young adults since industrialization create a favorable microenvironment for colorectal carcinogenesis.

Association of Patients' Knowledge on the Disease and Its Management with Indicators of Disease Severity and Individual Characteristics in Patients with Chronic Obstructive Pulmonary Disease (COPD): Results from COSYCONET 2.

Background: In patients with chronic diseases, including those with chronic obstructive pulmonary disease (COPD), knowledge on the disease and its self-management is considered as relevant for improving disease control and long-term outcome. We studied to which extent components of knowledge depended on potential predictors, such as participation in educational programs and disease severity. For example, the perception of exacerbations or GOLD grade might modulate the content and reliability of COPD understanding.

Integrating radiomics with clinical data for enhanced prediction of vertebral fracture risk.

Introduction: Osteoporotic vertebral fractures are a major cause of morbidity, disability, and mortality among the elderly. Traditional methods for fracture risk assessment, such as dual-energy X-ray absorptiometry (DXA), may not fully capture the complex factors contributing to fracture risk. This study aims to enhance vertebral fracture risk prediction by integrating radiomics features extracted from computed tomography (CT) scans with clinical data, utilizing advanced machine learning techniques.

Vocal Tract Configurations of Professional Operatic Singers During Sustained Phonation.

Objectives: In voice production, interactions occur between the oscillating vocal folds, the respiratory system, and the vocal tract. However, it is not yet sufficiently understood how the respiratory system could affect the vocal tract configuration. It is hypothesized that a reduction in tracheal pull, caused by decreasing lung volume, along with shifts in dominant exhalation forces (from inspiratory to expiratory muscles), leads to a larynx elevation with shortening of the vocal tract tube, and consecutively, articulatory adjustments to preserve consistent sound quality.