Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using long-read single-strand whole-genome sequencing (LR-GS), we identified a heterozygous GGC-repeat expansion in a large Utah pedigree encoding polyglycine (polyG) in zinc finger homeobox protein 3 (ZFHX3), also known as AT-binding transcription factor 1 (ATBF1). We queried 6,495 genome sequencing datasets and identified the repeat expansion in seven additional pedigrees.
View Article and Find Full Text PDFThe increasing lithium-ion battery production calls for profitable and ecologically benign technologies for their recycling. Unfortunately, all used recycling technologies are always associated with large energy consumption and utilization of corrosive reagents, which creates a risk to the environment. Herein we report a highly efficient mechanochemically induced acid-free process for recycling Li from cathode materials of different chemistries such as LiCoO, LiMnO, Li(CoNiMn)O, and LiFePO.
View Article and Find Full Text PDFObjectives: This study investigated the contemporary incidence and predictors of radial artery occlusion as well as the effectiveness of antithrombotic treatment for radial artery occlusion following transradial coronary angiography.
Background: The radial artery is the standard access for coronary angiography and even complex interventions. Postprocedural radial artery occlusion is still a common and significant complication.
: Limb apraxia is a motor cognitive disorder that has been mainly studied in patients with dementia or left hemisphere stroke (LHS). However, limb apraxia has also been reported in patients with right hemisphere stroke (RHS), multiple sclerosis (MS) or traumatic brain injury (TBI). This study's aim was to report detailed praxis performance profiles in samples suffering from these different neurological disorders by use of the Diagnostic Instrument for Limb Apraxia (DILA-S).
View Article and Find Full Text PDFIntroduction: Progress tests provide students feedback on their level of proficiency over the course of their medical studies. Peer-assisted learning and competency-based education have become increasingly important in medical education. Although progress tests have been proven to be useful as a longitudinal feedback instrument, there are currently no progress tests that have been created in cooperation with students or that focus on competency in medical education.
View Article and Find Full Text PDFPurpose: Pharmacotherapy of epilepsies is limited due to low concentrations at epileptogenic foci, side effects of high systemic doses and that some potentially efficient substances do not pass the blood-brain barrier. To overcome these limitations, we tested the efficacy of local valproate (VPA)-containing polymer implants in a model of necocortical injected tetanus toxin (TeT) in the rat.
Methods: Tetanus toxin was injected intracortically and cobalt (II) chloride (CoCl2) was applied on the cortical surface.