Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex.

The WAVE regulatory pentameric complex regulates actin remodeling. Two components of it (CYFIP2 and NCKAP1) are encoded by genes whose genetic mutations increase the risk for autism spectrum disorder (ASD) and related neurodevelopmental disorders. Here, we use a newly developed computational protocol and hotspot analysis to uncover the functional impact of these mutations at the interface of the correct isoforms of the two proteins into the complex.

Comparison of 2D and 3D lung lobe quantification with Ventilation/Perfusion Ratio.

In this study, standard 2D lung lobe quantification is compared with two 3D lung lobe quantification software tools to investigate the clinical benefit of a 3D approach. The accuracy of 2D versus 3D lung lobe quantification is evaluated based on the calculated numerical ventilation-perfusion ratio (VQR) using a receiver operating curve (ROC) analysis.A study group of 50 consecutive patients underwent a planar lung scintigraphy (anterior/posterior) as well as ventilation/perfusion single photon emission computed tomography (SPECT/CT) to exclude acute pulmonary embolism.

Assessing self-administration of medication: video-based evaluation of patient performance in the ABLYMED study.

Background: Older adults often face challenges in medication management due to multimorbidity and complex medication regimens, which frequently go unreported. Unrecognized problems, however, may lead to a loss of drug efficacy and harmful side effects. This study aimed to quantify the prevalence of such problems by applying a novel video-based assessment procedure in a sample of elderly patients.

Structural alterations as a predictor of depression - a 7-Tesla MRI-based multidimensional approach.

Major depressive disorder (MDD) is a debilitating condition that is associated with changes in the default-mode network (DMN). Commonly reported features include alterations in gray matter volume (GMV), cortical thickness (CoT), and gyrification. A comprehensive examination of these variables using ultra-high field strength MRI and machine learning methods may lead to novel insights into the pathophysiology of depression and help develop a more personalized therapy.

Large language models surpass human experts in predicting neuroscience results.

Scientific discoveries often hinge on synthesizing decades of research, a task that potentially outstrips human information processing capacities. Large language models (LLMs) offer a solution. LLMs trained on the vast scientific literature could potentially integrate noisy yet interrelated findings to forecast novel results better than human experts.

BMAL1-Potential Player of Aberrant Stress Response in Q31L Mice Model of Affective Disorders: Pilot Results.

Dysregulation in the stress-response system as a result of genetical mutation can provoke the manifestation of affective disorders under stress conditions. Mutations in the human gene is one of the main risk factors of affective disorders. It was known that DISC1 regulates a large number of proteins including BMAL1, which is involved in the regulation of glucocorticoid synthesis in the adrenal glands and the sensitivity of glucocorticoid receptor target genes.

Aβ status assessment in a hypothetical scenario prior to treatment with disease-modifying therapies: Evidence from 10-year real-world experience at university memory clinics.

Introduction: With the advent of disease-modifying therapies, accurate assessment of biomarkers indicating the presence of disease-associated amyloid beta (Aβ) pathology becomes crucial in patients with clinically suspected Alzheimer's disease (AD). We evaluated Aβ levels in cerebrospinal fluid (Aβ CSF) and Aβ levels in positron emission tomography (Aβ PET) biomarkers in a real-world memory-clinic setting to develop an efficient algorithm for clinical use.

Methods: Patients were evaluated for AD-related Aβ pathology from two independent cohorts (Ludwig Maximilian University [LMU],  = 402, and Medical University of Vienna [MUV],  = 144).

Microstructural asymmetry in the human cortex.

The human cerebral cortex shows hemispheric asymmetry, yet the microstructural basis of this asymmetry remains incompletely understood. Here, we probe layer-specific microstructural asymmetry using one post-mortem male brain. Overall, anterior and posterior regions show leftward and rightward asymmetry respectively, but this pattern varies across cortical layers.

ML-EM based dual tracer PET image reconstruction with inclusion of prompt gamma attenuation.

Conventionally, if two metabolic processes are of interest for image analysis, two separate, sequential positron emission tomography (PET) scans are performed. However, sequential PET scans cannot simultaneously display the metabolic targets. The concurrent study of two simultaneous PET scans could provide new insights into the causes of diseases.

Macro-scale patterns in functional connectivity associated with ongoing thought patterns and dispositional traits.

Complex macro-scale patterns of brain activity that emerge during periods of wakeful rest provide insight into the organisation of neural function, how these differentiate individuals based on their traits, and the neural basis of different types of self-generated thoughts. Although brain activity during wakeful rest is valuable for understanding important features of human cognition, its unconstrained nature makes it difficult to disentangle neural features related to personality traits from those related to the thoughts occurring at rest. Our study builds on recent perspectives from work on ongoing conscious thought that highlight the interactions between three brain networks - ventral and dorsal attention networks, as well as the default mode network.

Centiloid recommendations for clinical context-of-use from the AMYPAD consortium.

Amyloid-PET quantification through the tracer-independent Centiloid (CL) scale has emerged as an essential tool for the accurate measurement of amyloid-β (Aβ) pathology in Alzheimer's disease (AD) patients. The AMYPAD consortium set out to integrate existing literature and recent work from the consortium to provide clinical context-of-use recommendations for the CL scale. Compared to histopathology, visual reads, and cerebrospinal fluid, CL quantification accurately reflects the amount of AD pathology.

Bias-accounting meta-analyses overcome cerebellar neglect to refine the cerebellar behavioral topography.

The cerebellum plays important roles in motor, cognitive, and emotional behaviors. Previous cerebellar coordinate-based meta-analyses and mappings have attributed different behaviors to cerebellar subareas, but an accurate behavioral topography is lacking. Here, we show overrepresentation of superior activation foci, which may be exacerbated by historical cerebellar neglect.

Quantification Supports Amyloid PET Visual Assessment of Challenging Cases: Results from the AMYPAD Diagnostic and Patient Management Study.

Several studies have demonstrated strong agreement between routine clinical visual assessment and quantification, suggesting that quantification approaches could support assessment by less experienced readers or in challenging cases. However, all studies to date have implemented a retrospective case collection, and challenging cases were generally underrepresented. We included all participants ( = 741) from the AMYPAD diagnostic and patient management study with available baseline amyloid PET quantification.

Neurobiological correlates of comorbidity in disorders across the affective disorders-psychosis spectrum.

Disorders across the affective disorders-psychosis spectrum such as major depressive disorder (MDD), bipolar disorder (BD), schizoaffective disorder (SCA), and schizophrenia (SCZ), have overlapping symptomatology and high comorbidity rates with other mental disorders. So far, however, it is largely unclear why some of the patients develop comorbidities. In particular, the specific genetic architecture of comorbidity and its relationship with brain structure remain poorly understood.

The voice of depression: speech features as biomarkers for major depressive disorder.

Background: Psychiatry faces a challenge due to the lack of objective biomarkers, as current assessments are based on subjective evaluations. Automated speech analysis shows promise in detecting symptom severity in depressed patients. This project aimed to identify discriminating speech features between patients with major depressive disorder (MDD) and healthy controls (HCs) by examining associations with symptom severity measures.

Personality traits vary in their association with brain activity across situations.

Human cognition supports complex behaviour across a range of situations, and traits (e.g. personality) influence how we react in these different contexts.

Survival and Complication Rates of Feldspathic, Leucite-Reinforced, Lithium Disilicate and Zirconia Ceramic Laminate Veneers: A Systematic Review and Meta-Analysis.

Objectives: To analyze survival and complication rates for anterior and premolar laminate-veneers out of different ceramic materials (feldspathic, leucite-reinforced glass-ceramic [LRGC], lithium-disilicate [LDS] and zirconia).

Material And Methods: A systematic literature search was conducted across multiple databases for clinical studies on ceramic laminate-veneers with a minimum-follow-up of ≥ 1 year. The date of last search was on February 19, 2024.

ENIGMA-Meditation: Worldwide consortium for neuroscientific investigations of meditation practices.

Meditation is a family of ancient and contemporary contemplative mind-body practices that can modulate psychological processes, awareness, and mental states. Over the last 40 years, clinical science has manualised meditation practices and designed various meditation interventions (MIs), that have shown therapeutic efficacy for disorders including depression, pain, addiction, and anxiety. Over the past decade, neuroimaging has examined the neuroscientific basis of meditation practices, effects, states, and outcomes for clinical and non-clinical populations.

Flow cytometry identifies changes in peripheral and intrathecal lymphocyte patterns in CNS autoimmune disorders and primary CNS malignancies.

Background: Immune dysregulation is a hallmark of autoimmune diseases of the central nervous system (CNS), characterized by an excessive immune response, and primary CNS tumors (pCNS-tumors) showing a highly immunosuppressive parenchymal microenvironment.

Methods: Aiming to provide novel insights into the pathogenesis of CNS autoimmunity and cerebral tumor immunity, we analyzed the peripheral blood (PB) and cerebrospinal fluid (CSF) of 81 autoimmune limbic encephalitis (ALE), 148 relapsing-remitting multiple sclerosis (RRMS), 33 IDH-wildtype glioma, 9 primary diffuse large B cell lymphoma of the CNS (CNS-DLBCL), and 110 controls by flow cytometry (FC). Additionally, an in-depth immunophenotyping of the PB from an independent cohort of 20 RRMS and 18 IDH-wildtype glioblastoma patients compared to 19 controls was performed by FC combined with unsupervised computational approaches.

Artificial Intelligence for Response Assessment in Neuro Oncology (AI-RANO), part 1: review of current advancements.

The development, application, and benchmarking of artificial intelligence (AI) tools to improve diagnosis, prognostication, and therapy in neuro-oncology are increasing at a rapid pace. This Policy Review provides an overview and critical assessment of the work to date in this field, focusing on diagnostic AI models of key genomic markers, predictive AI models of response before and after therapy, and differentiation of true disease progression from treatment-related changes, which is a considerable challenge based on current clinical care in neuro-oncology. Furthermore, promising future directions, including the use of AI for automated response assessment in neuro-oncology, are discussed.