Documents in Process

Despite advances in mammography screening, some cancers remain undetected, prompting the evaluation of artificial intelligence (AI) as an independent third reader to reduce missed cancers.In this prospective study, women eligible for the German Mammography Screening were enrolled at six sites belonging to one screening unit between August 2023 and February 2024. Each mammogram underwent double reading and was independently analyzed using Transpara, an AI-based detection software. [...]

Combined oral contraceptive (COC) use has been associated with stress-like, metabolic, and inflammatory alterations. Previous studies demonstrated that metabolic changes were related to cortisol. [...]

Background/Objectives: Weight loss and hypermetabolism are negative prognostic factors in amyotrophic lateral sclerosis (ALS). Ketone bodies (β-hydroxybutyrate, βHB) as high-energy substrates may compensate for this energy deficit, since a ketogenic diet (KD) has been shown to increase survival and stabilize body weight in the SOD1 mouse model. [...]

Neuroinflammation is increasingly recognized as a key modulator of therapeutic response and adverse events in Alzheimer's disease (AD), especially during anti-amyloid-β (Aβ) monoclonal antibody (Aβ-mAb) treatment. We applied longitudinal translocator protein (TSPO) positron emission tomography (PET) to evaluate TSPO-associated neuroinflammatory responses to chronic Aβ-mAb therapy and their modulation by the peroxisome proliferator-activated receptor γ (PPARγ) agonist pioglitazone. [...]

Background: Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations.Objective: We conducted the first large-scale, multi-ancestral investigation of PD to examine the impact of genome-wide homozygosity on disease risk and age at onset (AAO). Using genotyping, imputed, and whole-genome sequencing data from 36,127 PD cases and 19,475 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability.Methods: We analyzed ROHs for total length (SROH), number (NROH), average length (AVROH), and genomic inbreeding coefficient (FROH). [...]

Deep brain stimulation (DBS) of the ventral intermediate nucleus (VIM) and caudal zona incerta is an established therapy for essential tremor (ET). Clinical outcomes depend on precise electrode placement and optimal stimulation parameters. [...]

Friedreich ataxia (FA) causes progressive impairment of communication due to gradual deterioration of speech, associated with impaired hearing, socio-cognitive and language skills. There is an urgent need to investigate the impact of this multiparametric alteration on patients' lives. [...]

While thrombectomy benefits patients with large infarcts, it is unclear whether this benefit persists across different levels of reperfusion.This study investigates how the degree of reperfusion influences the effectiveness of endovascular thrombectomy (EVT) combined with best medical treatment (BMT), compared to BMT alone, in patients with large infarcts.This post hoc analysis of the TENSION trial, a randomized controlled study, assessed EVT versus BMT in patients with extensive infarction (Alberta Stroke Program Early CT Score (ASPECTS) 3-5). Primary outcome was the modified Rankin Scale (mRS) score at 90 days. [...]

Intronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as a recurrent feature of this disease. [...]

Obsessive-compulsive disorder (OCD) is associated with a dysfunction of the cortico-striato-thalamo-cortical loops and overarching functional networks as well as with disturbances in serotonin, dopamine, and glutamate neurotransmission. In rare individual cases, the underlying cause is an autoimmune OCD. [...]