Innsbruck Medical University

Hemorrhage Volume and Imaging Recommendations: Factors for Decision Making in the Care of Patients With Perimesencephalic Subarachnoid Hemorrhage

BACKGROUND AND OBJECTIVES: Perimesencephalic subarachnoid hemorrhage (pmSAH) has a markedly better prognosis than aneurysmal subarachnoid hemorrhage. Despite advances in noninvasive imaging, the role of repeat digital subtraction angiography (DSA) after negative initial high-qual...

Psychosocial support for mothers experiencing psychological stress in early childhood interventions: a mixed-methods evaluation in Austria

Abstract Background Psychological stress during pregnancy and early motherhood is a major public health concern with significant implications for maternal wellbeing and early child development. Persistent stress during this period can adversely affect maternal mental health, pare...

Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome

Objective PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnorm...

Radiological response of primary central nervous system lymphoma after corticosteroid therapy and its predictive value on overall survival: a multicenter study

Abstract Background Primary Large-B-Cell Lymphoma of the CNS (PCNS-LBCL) is a rare, aggressive tumor often sensitive to corticosteroid therapy (CST). This multicenter study investigated the spectrum of radiological responses to routine CST and evaluated its impact on patient prog...

High-resolution peripheral quantitative computed tomography imaging and bone biomarker characteristics of patients with ischemic stroke or transient ischemic attack—baseline analysis of the Post-stroke Osteopathy study

Stroke or transient ischemic attack (TIA) leads to unfavorable structural changes in the bones. The underlying pathophysiological process is unclear. We provide a detailed characterization of the structural and biochemical properties of bone in a stroke/TIA cohort. Our findings l...

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Reorganization of Innate Immune Cell Lipid Profiles by Bioinspired Meroterpenoids to Limit Inflammation

Lipidomics-guided screening of unexplored natural product chemical space provides access to small molecules that globally reprogram cellular lipid profiles. Here, we show that the meroterpenoid cyclosmenospongine from Spongia sp. reshapes immune cell lipidomes, shifting them from...

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect

The identification of a pathogenic variant (PV) in one of the mismatch repair (MMR) genes confirms the diagnosis of Lynch syndrome (LS). Hence, the correct classification of MMR gene variants is of utmost importance for appropriate counselling, surveillance, and treatment of LS p...

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

Background Spinocerebellar Ataxia 27B (SCA27B) is a novel, frequent and likely treatable late-onset autosomal-dominant ataxia caused by GAA repeat-expansions in FGF14 . For understanding disease evolution and imminent trial planning, metrics of the most widely used clinical outco...

Histological aging signatures for monitoring tissue-specific aging and disease

Aging is the primary risk factor for chronic disease and is characterized by profound structural and architectural remodeling of human tissues. Here, we present a comprehensive assessment of these changes using 25,712 whole-slide histopathological images from 40 tissue types acro...

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

Lysosomes are dynamic organelles regulating metabolic signaling by recruiting cytosolic molecules to protein platforms on their limiting membrane. We used proximity labeling to define interactors and vicinal proteins of LAMTOR3, a component of the Ragulator scaffold that controls...

Radiomics for risk stratification in brain metastases: potential in melanoma brain metastases

The identification of quantitative non-invasive imaging biomarkers, including radiomics, may complement molecular characterization and thereby improve clinical management of neuro-oncological patients. We aimed to identify imaging predictors with improved performance over clinica...

Washout characteristics of sevoflurane and desflurane in surgical patients: a prospective observational study using gas chromatography - ion mobility spectrometry

Abstract Background Sevoflurane and desflurane are routinely used volatile anaesthetics in balanced general anaesthesia, but their elimination time from the human body may be underestimated. Methods Levels of sevoflurane and desflurane in end-tidal exhaled breath and ambient room...