Search results for "610"
showing 10 items of 1353 documents
Fabry Disease With Concomitant Lewy Body Disease
2019
AbstractAlthough Gaucher disease can be accompanied by Lewy pathology (LP) and extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another progressive multisystem lysosomal storage disorder. We aimed to elucidate the distribution patterns of FD-related inclusions and LP in the brain of a 58-year-old cognitively unimpaired male FD patient suffering from predominant hypokinesia. Immunohistochemistry (CD77, α-synuclein, collagen IV) and neuropathological staging were performed on 100-µm sections. Tissue from the enteric or peripheral nervous system was unavailable. As controls, a second cognitively unimpaired 50-year-old male FD patient without LP or motor symptoms and 3…
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
2015
Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining n…
Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.
2019
Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can exert toxic functions by trapping RNA-binding proteins. While few examples of proteins that aberrantly bind to mutant HTT RNA and execute abnormal function in conjunction with the CAG repeat RNA have been described, an unbiased approach to identify the interactome of mutant HTT RNA is missing. Here, we describe the analysis of proteins that preferentially bind mutant HTT RNA using a mass spectrometry approach. We show that (I) the majority of proteins captured by mutant…
El error diagnóstico en radiología. Análisis de variables explicativas
2019
ANTECEDENTES: Se ha demostrado que la etiología del error médico es multifactorial, con convergencia de factores humanos activos (errores de percepción, cognición y/o comunicación) y factores latentes del sistema. Los factores latentes del sistema son aquellas variables que pueden predisponer a la aparición de errores activos, o aumentar el impacto negativo de estos. Incluyen una amplia variedad de elementos, entre otros el material de trabajo inadecuado, la sobrecarga de trabajo, la falta de experiencia del radiólogo, la información clínica insuficiente y la no disponibilidad de estudios previos. Nuestra hipótesis de trabajo es que los factores latentes contribuyen significativamente al er…
Neuroprotection by erythropoetin and darbopoetin-alfa - Following experimental intracerebral hemorrhage
2008
Validierung der Messung der gesundheitsbezogenen Lebensqualität mittels des SF-12 Version 2.0 in einer deutschen Normstichprobe
2018
Hintergrund: Mit der gesundheitsbezogenen Lebensqualität ist das subjektive Befinden von Menschen zu einem wesentlichen Teil der Gesundheitsforschung geworden. In der Lebensqualitätsforschung werden auf Basis einer bio-psycho-sozialen Modellvorstellung psychologische, funktionale und soziale[zum vollständigen Text gelangen Sie über die oben angegebene URL]
Performance of $b$-Jet Identification in the ATLAS Experiment
2016
We thank CERN for the very successful operation of the LHC, as well as the support staff from our institutions without whom ATLAS could not be operated efficiently. We acknowledge the support of ANPCyT, Argentina; YerPhI, Armenia; ARC, Australia; BMWFW and FWF, Austria; ANAS, Azerbaijan; SSTC, Belarus; CNPq and FAPESP, Brazil; NSERC, NRC and CFI, Canada; CERN; CONICYT, Chile; CAS, MOST and NSFC, China; COLCIENCIAS, Colombia; MSMT CR, MPO CR and VSC CR, Czech Republic; DNRF, DNSRC and Lundbeck Foundation, Denmark; IN2P3-CNRS, CEA-DSM/IRFU, France; GNSF, Georgia; BMBF, HGF, and MPG, Germany; GSRT, Greece; RGC, Hong Kong SAR, China; ISF, I-CORE and Benoziyo Center, Israel; INFN, Italy; MEXT an…
Volume I. Introduction to DUNE
2020
Journal of Instrumentation 15(08), T08008 (1-228) (2020). doi:10.1088/1748-0221/15/08/T08008
Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey
2020
Aim:Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula. Materials and Methods:Sixteen pediatric surgeons from 14 European centers belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms taken in sagittal projection at a median age of 66 days of life (rang…
Predictors for Therapy Response to Intrathecal Corticosteroid Therapy in Multiple Sclerosis
2019
\(\bf Objective:\) The autoimmune disease Multiple Sclerosis (MS) represents a heterogeneous disease pattern with an individual course that may lead to permanent disability. In addition to immuno-modulating therapies patients benefit from symptomatic approaches like intrathecal corticosteroid therapy (ICT), which is frequently applied in a growing number of centers in Germany. ICT reduces spasticity, which elongates patient's walking distance and speed, thus improves quality of life. \(\bf Methods:\) In our study we set out to investigate cerebrospinal fluid (CSF) parameters and clinical predictors for response to ICT. Therefore, we analyzed 811 CSF samples collected from 354 patients over …