A5059312142- Fetal and Pediatric Neurological Disorders
- Advanced MRI Techniques and Applications
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Hearing, Cochlea, Tinnitus, Genetics
- Medical Imaging Techniques and Applications
- Traumatic Brain Injury and Neurovascular Disturbances
- Head and Neck Surgical Oncology
- Ear Surgery and Otitis Media
- Hearing Loss and Rehabilitation
- Neurological and metabolic disorders
- Functional Brain Connectivity Studies
- Meningioma and schwannoma management
- RNA Research and Splicing
- Neonatal and fetal brain pathology
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Nasal Surgery and Airway Studies
- Complement system in diseases
- Noise Effects and Management
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
Medizinische Hochschule Hannover
2016-2025
University Medical Centre Mannheim
2008
Heidelberg University
2008
University Hospital Heidelberg
2008
Universitätsklinikum Knappschaftskrankenhaus Bochum
2006
Ruhr University Bochum
2006
Universitätsklinikum Tübingen
2005-2006
University of Tübingen
2005
RWTH Aachen University
1999
Abstract SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic biallelic variants, predominantly clustered last coding exon, are ascertained to segregate disease. We demonstrate that mutant SPN1 failed oligomerize...
Anti-NMDA receptor (NMDAR) encephalitis is an autoimmune antibody-mediated neuropsychiatric disorder. The disorder known to be associated with ovarian teratoma and predominantly affects young women. Here, we report the case of a 34-year-old woman anti-NMDAR encephalitis, in which detailed investigations gave no specific hint for teratoma. Despite this, due continuous severe clinical syndrome, ovarectomy was performed histological examination revealed occult led remarkable improvement even...
<b>Objective</b> In this retrospective study, we aimed to assess frequency, types, and long-term outcome of neurological disease during acute <i>Mycoplasma pneumoniae</i> (<i>M. pneumoniae</i>) infection in pediatric patients. <b>Materials Methods</b> Medical records patients hospitalized with <i>M. were reviewed. Possible risk factors analyzed by uni- multivariate regression. Patients symptoms followed up expanded disability status score (EDSS) the cognitive problems children adolescents...
Abstract With an incidence of 2–5 per million adults, cerebral venous and sinus thrombosis (CVST) is a rarity in the spectrum cerebrovascular diseases. The etiology symptomatic presentation are heterogeneous diverse. CSVT is, therefore, often underdiagnosed. In addition to therapeutic anticoagulation, thrombectomy last-resort therapy individual cases. A 42-year-old woman was admitted hospital with postural headache following unsuccessful lumbar puncture. On suspicion post-puncture syndrome,...
Chiari malformation type III is a rare and severe congenital disorder characterized by herniation of posterior fossa contents into encephalocele other abnormalities. It associated with high rate early mortality survivors suffer from neurological deficits mental retardation. There only very limited data available on long-term outcome after surgery, in general there lack quantification disability. In this technical note, we present the case female newborn diagnosed already during pregnancy...
To describe the neurologic and neuroradiologic complications of Shiga toxin producing Escherichia coli infection (STEC)-associated hemolytic-uremic syndrome (HUS) in adults.All 52 adult patients with STEC O104:H4 cared for at Hannover Medical School during outbreak Germany through May-July 2011 are considered this observational study. Forty-three underwent a standard diagnostic procedure including clinical examination, Mini-Mental State Examination, Glasgow Coma Scale Score. Thirty-six EEG,...
The objective of this study was to evaluate and analyze morphometric volumetric changes the skull due acromegaly in areas relevant for neurosurgical practice, focusing on surgical implications.On preoperatively acquired CT scans, cephalometric measurements were performed 45 patients with (Group A) control B). authors determined thickness cranial vault, inner outer diameters skull, diameter sphenoidal maxillary sinus, as well frontal sinus volumetry. data compared a group correlated clinical...
<h3>BACKGROUND AND PURPOSE:</h3> Gadobenate dimeglumine (MultiHance) has higher r1 relaxivity than gadoterate meglumine (Dotarem) which may permit the use of lower doses for MR imaging applications. Our aim was to compare 0.1- and 0.05-mmol/kg body weight gadobenate with 0.1-mmol/kg assessment brain tumors. <h3>MATERIALS METHODS:</h3> We performed crossover, intraindividual comparison (Arm 1) 2). Adult patients suspected or known tumors were randomized Arm 1 (70 patients) 2 (107 underwent...
Untreated chronic otitis media severely impairs quality of life in affected individuals. Local destruction the middle ear and subsequent loss hearing are common sequelae, currently available treatments provide limited relief. Therefore, objectives this study were to evaluate feasibility insertion a coronary stent from nasopharynx into Eustachian tube in-vivo sheep make an initial assessment its positional stability, tolerance by animal, possible tissue reactions. Bilateral implantation bare...
Aminoacylation of transfer RNA (tRNA) is a key step in protein biosynthesis, carried out by highly specific aminoacyl-tRNA synthetases (ARSs). ARSs have been implicated autosomal dominant and recessive human disorders. Autosomal variants tryptophanyl-tRNA synthetase 1 (WARS1) are known to cause distal hereditary motor neuropathy Charcot-Marie-Tooth disease, but recessively inherited phenotype yet be clearly defined. Seryl-tRNA (SARS1) has rarely an developmental disorder. Here, we report...
Objective/Hypothesis Magnetic resonance imaging of the temporal bone has an important role in decision making with regard to cochlea implantation, especially children cochlear nerve deficiency. The purpose this study was evaluate usefulness combination advanced high‐resolution T2‐weighted sequence a surface coil 3‐Tesla magnetic scanner cases suspected aplasia. Study Design Prospective study. Methods Seven patients hypoplasia or aplasia were prospectively examined using three‐dimensional...
In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave way an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network disorders has been established comprising renowned experts neurology, pediatric (neuro-) genetics and neuroradiology. DASNE successfully implemented case presentations multidisciplinary discussions both...
We report the results of a prospective, standardized follow-up programme eight children (median age at SCT 1.2 yr) with mucopolysaccharidosis (MPS1H, M. Hurler) transplanted using fludarabine-based SCT. resulted in stable engraftment without transplant-related mortality. All patients are alive, engrafted and ambulatory care. During five yr, 1.9-8 yr), six showed developmental delay (two severe, two mild/no), all had spinal deformities one received hip surgery for acetabular dysplasia. Hand...
To investigate possible effects of injections tritiated thymidine ([3H]dThd) into pregnant mice or the injection procedure itself on proliferation neuronal precursor cells in fetuses, received intraperitoneal either [3H]dThd saline embryonic days 12, 14, and 19, while their offspring remained untreated. A second group dams was not injected but male a subcutaneous again postnatal day 10. Then total numbers hippocampal pyramidal (areas CA1 to CA3) granular (dentate gyrus) were determined...
Aging is the most significant determinant for brain iron accumulation in deep grey matter. Data on evolution during maturation early childhood are limited. The purpose of this study was to investigate age-related deposition matter children using quantitative susceptibility (QSM) and R2* mapping.We evaluated MRI scans 74 (age 6-154 months, mean 40 months). A multi-echo gradient-echo sequence obtained at 3 Tesla used QSM calculation. Susceptibility pallidum, head caudate nucleus, putamen...