A5072695678- Neurofibromatosis and Schwannoma Cases
- Tuberous Sclerosis Complex Research
- Vascular Malformations Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Meningioma and schwannoma management
- Cerebrospinal fluid and hydrocephalus
- Polyomavirus and related diseases
- Adrenal and Paraganglionic Tumors
- Renal and related cancers
- Chromatin Remodeling and Cancer
- Fetal and Pediatric Neurological Disorders
- Soft tissue tumor case studies
- Tumors and Oncological Cases
- Genetic and Kidney Cyst Diseases
- Medical Imaging and Pathology Studies
- Histiocytic Disorders and Treatments
- Neuroendocrine Tumor Research Advances
- Soft tissue tumors and treatment
- Hormonal Regulation and Hypertension
- Neurogenetic and Muscular Disorders Research
- Cardiovascular Syncope and Autonomic Disorders
- Aortic aneurysm repair treatments
- Rings, Modules, and Algebras
- Neuroscience of respiration and sleep
- RNA regulation and disease
University Hospital in Motol
1992-2024
Charles University
2007-2024
Klinik und Poliklinik für Neurologie
2018
University of Utah
1998
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, respiratory insufficiency, causing death frequently before the age year. Recently, causative mutations in EXOSC3 were reported a majority PCH1 patients, but detailed clinical phenotype caused mutations, genotype-phenotype correlations, prevalent specific ethnic groups not yet...
Abstract We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), which 93 infants TSC were followed from birth to age 2 years, seeking biomarkers development. Vigabatrin had profound effects on many metabolites, increasing serum deoxycytidine monophosphate (dCMP) levels 52-fold. Most proteins and blood RNA species showed significant change age....
Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,000-1/5,000 in various population-based studies). About 30-50% of cases are sporadic, resulting from new mutation. NF1 fully penetrant by mid-childhood, stigmata, and medical problems (neurological, dermatological, endocrine, ophthalmological, oncological) highly variable. Advanced paternal age (APA) has been known to increase the risk germline mutations that contribute presence...
Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been shown to be effective and safe in the treatment subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC). The Everolimus For Fast Expanded aCcess TSC SEGA (EFFECTS) study was designed provide everolimus access patients mainly assess safety also efficacy real-world setting.EFFECTS phase 3b, open-label, noncomparative, multicenter, expanded study. Eligible were ≥ 3 years age, definite...
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated disorders (TANDs), including autism spectrum (ASD) intellectual disability (ID). MicroRNAs (miRNAs) are small regulatory non-coding RNAs that regulate the expression more than 60% all protein-coding genes in humans have been reported to be dysregulated several diseases, TSC. In current study, RNA...
We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, mosaicism of ring chromosome 17 monosomy. The extent genetic material deleted from the was determined using combination classical cytogenetics, fluorescence in situ hybridization (FISH) multiplex ligation-dependent probe amplification (MLPA) to be 0.6-2.5 Mb on 17p, up about 10 17q. Based our observations review literature we argue that addition universal "ring syndrome"...
Abstract Objective Previous retrospective studies have reported vigabatrin‐associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort assessed to what extent VABAM‐related symptoms were TSC infants. Methods The Dutch Registry EPISTOP provided prospective data from 80 patients treated with (VGB) before age of...
INTRODUCTION: Neurofibromatosis von Recklinghausen type 1 (NF1) is characterized by the following National Institutes of Health (NIH) diagnostic criteria: café au lait spots, freckling, neurofibromas, Lisch nodules, optic glioma, distinct osseous lesions, and first-degree relative with NF1. Focal areas high-signal intensity (FASI) in white matter deep gray are typical brain MRI findings children OBJECTIVE: This study evaluated frequency FASI possibility using as a criterion. METHODS: In...
Neurokutánní onemocnění je skupina vrozených, genetiky podmíněných, multisystémových chorob, které postihují především kůži a nervový systém, ale také další systémy organizmu.Vznikají při chybném vývoji neurální lišty postižení neuroektodermu.Všechna neurokutánní patří mezi vzácné choroby.Manifestují se od novorozeneckého věku do dospělosti mají velmi variabilní klinické projevy, často s pomalým progresivním průběhem.Významným rysem četný výskyt nádorových procesů, v dětství benigního...