A5011927286- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Advanced Neuroimaging Techniques and Applications
- Inflammatory Myopathies and Dermatomyositis
- Sports injuries and prevention
- Hereditary Neurological Disorders
- Cerebral Palsy and Movement Disorders
- Stroke Rehabilitation and Recovery
- Viral Infections and Immunology Research
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Parkinson's Disease Mechanisms and Treatments
- Virus-based gene therapy research
- Prosthetics and Rehabilitation Robotics
- RNA modifications and cancer
- Botulinum Toxin and Related Neurological Disorders
- Clinical Reasoning and Diagnostic Skills
- Heterotopic Ossification and Related Conditions
- Nuclear Structure and Function
- Autoimmune and Inflammatory Disorders Research
- Skin and Cellular Biology Research
- Muscle and Compartmental Disorders
- Neurological diseases and metabolism
BG University Hospital Bergmannsheil Bochum
2013-2024
Ruhr University Bochum
2011-2024
Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature. We propose to identify proteins that accumulate within RVs.RVs and intact myofibers were laser microdissected from skeletal muscle of 18 sIBM patients analyzed by sensitive mass spectrometry approach using label-free spectral count-based relative protein quantification. Whole exome sequencing was performed on 62 patients. Immunofluorescence patient mouse muscle.A total 213...
Abstract Background The development and approval of disease modifying treatments have dramatically changed progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved Europe 2017 for the treatment SMA irrespective age severity. Most data on therapeutic efficacy are available infantile-onset SMA. For type 2 3, there is still a lack sufficient evidence long-term experience nusinersen treatment. Here, we report from SMArtCARE registry non-ambulant children typen 3 under...
Purpose: Exoskeletons have been developed for rehabilitation of patients with walking impairment due to neurological disorders. Recent studies shown that the voluntary-driven exoskeleton HAL® (hybrid assistive limb) can improve functions in spinal cord injury and stroke. The aim this study was assess safety effects on function supported treadmill therapy limb-girdle muscular dystrophy (LGMD). Materials Methods: Three LGMD received 8 weeks training 3 times a week. Outcome parameters were...
Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, point mutations in the dystrophin-encoding DMD gene. However, small subset of patients clinically diagnosed with DMD, molecular cause not identified these routine methods. Evaluation 60 our center revealed three cases without known genetic cause. DNA samples...
Escherichia coli Nissle 1917 (EcN) bears a defect in its LPS biosynthesis leading to truncated variable oligosaccharide-antigen chains and semi-rough phenotype. It is effectively inactivated by complement factors due resolved serum resistance is, therefore, safe as probiotic strain, i.e. for the treatment of inflammatory gastrointestinal diseases. unknown whether modification EcN contributes properties. Purified from wild-type uropathogenic E. W536 together with raw lysates both strains were...
Skeletal muscle biopsy is one of the gold standards in diagnostic workup disorders. By histopathologic analysis, characteristic features like inflammatory cellular infiltrations, fat and collagen replacement tissue or structural defects myofibers can be detected. In past years, novel quantitative MRI (qMRI) techniques have been developed to quantify parameters, thus providing a non-invasive tool several myopathies.This proof-of-principle study was performed validate qMRI-techniques skeletal...
Abstract Quantitative muscle magnetic resonance imaging (qMRI) is a valuable methodology for assessing muscular injuries and neuromuscular disorders. Notably, diffusion tensor (DTI) gives insights into microstructural macrostructural characteristics. However, the long‐term reproducibility robustness of these measurements remain relatively unexplored. The purpose this prospective longitudinal cohort study was to assess range variation qMRI parameters, especially DTI metrics, in lower...
Sporadic inclusion body myositis (sIBM) is the predominant idiopathic inflammatory myopathy (IIM) in older people. Limitations of classical clinical assessments have been discussed as possible explanations for failed trials, underlining need more sensitive outcome measures. Quantitative muscle MRI (qMRI) a promising candidate evaluating and monitoring sIBM.
Abstract Background and purpose Quantitative muscle magnetic resonance imaging (MRI) is a promising non‐invasive method in the diagnostic workup as well follow‐up of neuromuscular disorders. The aim this study was to correlate quantitative MRI (qMRI) parameters histopathological changes skeletal tissue thus verify data from our pilot study. Methods Twenty‐six patients (eight females, 46.4 ± 15.1 years) were examined within 72 h before 24 after biopsy using MRI. Post‐biopsy employed pinpoint...
Diagnosis of neuromuscular diseases in primary care is often challenging. Rare such as Pompe disease are easily overlooked by the general practitioner. We therefore aimed to develop a diagnostic support tool using patient-oriented questions and combined data mining algorithms recognizing answer patterns individuals with selected diseases. A multicenter prospective study for proof concept was conducted thereafter. First, 16 interviews patients were focusing on their pre-diagnostic...
Abstract To evaluate differences in qMRI parameters of muscle diffusion tensor imaging (mDTI), fat-fraction (FF) and water T2 time leg muscles calpainopathy patients (LGMD R1/D4) compared to healthy controls, correlate those findings clinical if show degeneration not-yet fatty infiltrated muscles. We evaluated eight thigh seven calf 19 matched controls. MRI scans were performed on a 3T including mDTI, mapping mDixonquant sequence. Clinical assessment was done with manual testing, patient...
Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked a neuromuscular disorder with manifestation child- or adulthood. Clinical findings indicate neuromyopathy presenting muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers missing, we aimed identify blood of relevance: white cells (WBC) plasma derived from six VWA1-patients investigated by...
Late-onset Pompe disease (LOPD) is a metabolic myopathy caused by mutations in GAA and characterized proximal muscle weakness respiratory insufficiency. There evidence from clinical studies that enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase improves motor performance function LOPD.We analyzed quantitative MRI data of lower limbs to evaluate the effects long-term ERT on parameters.Three symptomatic LOPD patients who received for five years four untreated...
High pre-existing antibodies against viral vectors reduce their functionality and may lead to adverse complications. To circumvent this problem in future gene therapy approaches, we tested the seroprevalence of a large range human adenovirus types patients with neuromuscular disorders (NMDs) find appropriate vector candidates for replacement NMDs. Binding neutralizing 39 were sera 133 NMDs 76 healthy controls aged 17–92 years. The influence age, sex, on antibody levels was analyzed....
Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated a reduced quality life. The aim this study was to analyse pain characteristics its relation small nerve fiber involvement LOPD patients.In 35 under enzyme replacement therapy without clinical signs polyneuropathy (19 females; 51 ± 15 years), as well depressive anxiety symptoms were assessed using PainDetect questionnaire (PDQ) hospital depression scale (HADS), respectively. Distal skin biopsies...
Background: Quantitative muscle MRI (qMRI) is a promising tool for evaluating and monitoring neuromuscular disorders (NMD). However, the application of different imaging protocols processing pipelines restricts comparison between patient cohorts disorders. In this qMRI study, we aim to compare dystrophic (limb-girdle muscular dystrophy), inflammatory (inclusion body myositis), metabolic myopathy (Pompe disease) as well patients with post-COVID-19 conditions suffering from myalgia healthy...
Limb-girdle muscular dystrophy (LGMD) type R1 (LGMDR1) is the most common subtype of LGMD in Europe. Prospective longitudinal data, including clinical assessments and new biomarkers such as quantitative magnetic resonance imaging (qMRI), are needed to evaluate natural course disease therapeutic options. We evaluated eight thigh seven leg muscles 13 LGMDR1 patients (seven females, mean age 36.7 years, body mass index 23.9 kg/m
High levels of pre-existing antibodies are a major challenge for the application viral vectors since they can severely limit their efficacy. To identify promising candidates among adeno-associated virus (AAV) based future gene therapies treatment hereditary neuromuscular disorders (NMDs), we investigated antibody in sera from patients with NMDs against 18 AAV types, including 11 AAVs wild-type capsids, 5 peptide-modified capsids and 2 shuffled capsids. With regard to capsid AAVs, lowest...
Myotonic Dystrophies type 1 and 2 are hereditary myopathies with dystrophic muscle degeneration in varying degrees. Differences diffusion between both diseases have not been evaluated yet.To evaluate the ability of tensor imaging (mDTI) Dixon fat-quantification to distinguish Dystrophy (DM) if show distinct involvement patterns.We 6 thigh 7 calf muscles (both legs) 10 DM 1, 13 28 healthy controls (HC) imaging, T1w mDixonquant sequences a 3T MRI scanner. The quantitative mDTI-values axial...
Muscle diffusion tensor imaging (mDTI)-based tractography is a promising tool with which to detect subclinical changes in muscle injuries and evaluate pathophysiology neuromuscular diseases. Classic region of interest (ROI)-based very time-consuming requires an examiner extensive experience. (Semi)automatic approaches such as volume-based (VBT) can diminish this problem but its robustness stability are unknown. The aim the current study was assess performance VBT multicenter setting...
Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with myofibrillar myopathy, carrying heterozygous c.4984C > T [p.Q1662X] mutation in filamin C (FLNC)-gene, via lentiviral expression OCT4, SOX2, KLF4 and c-MYC. displays typical embryonic cell-like morphology, carries FLNC gene mutation, expressed several makers, retained normal karyotype (46, XY) holds potential to differentiate all...
Sporadic inclusion body myositis (sIBM) is characterized by myopathological features including rimmed vacuoles (RVs) and proteins associated with protein aggregation, autophagy, inflammation. Previous proteomic studies of RV areas revealed an overrepresentation several chaperones subunits the T-complex 1 (TCP-1), which involved in prevention aggregation.To validate our findings, immunofluorescence analyses selected quantitative Western blot analysis TCP-1 were performed five sIBM patients...
Sporadic inclusion body myositis (sIBM) and polymyositis (PM) are characterized by muscle inflammation, with sIBM showing additional degenerative alterations. In this study we investigated human beta defensins associated TLRs to elucidate the role of innate immune system in idiopathic inflammatory myopathies (IIM), its association Expression levels beta-defensin (HBD)-1, HBD-2, HBD-3 TLR2, 3, 4, 7 9 were analysed quantitative real-time PCR skeletal tissue. Localization HBD-3, collagen 6,...