A5002903855- Multiple Sclerosis Research Studies
- Peripheral Neuropathies and Disorders
- Autoimmune Neurological Disorders and Treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Bacterial Infections and Vaccines
- Epilepsy research and treatment
- Acute Lymphoblastic Leukemia research
- Autoimmune and Inflammatory Disorders Research
- Viral Infections and Immunology Research
- Inflammasome and immune disorders
- Neuroscience and Neuropharmacology Research
- Neurological and metabolic disorders
- Drug Transport and Resistance Mechanisms
- Muscle Physiology and Disorders
- Hereditary Neurological Disorders
- Bartonella species infections research
- Pharmacological Effects and Toxicity Studies
- Cerebral Venous Sinus Thrombosis
- Vector-borne infectious diseases
- Electrolyte and hormonal disorders
- Genetic Syndromes and Imprinting
- Cellular transport and secretion
- Genetic Neurodegenerative Diseases
- Biotin and Related Studies
- Celiac Disease Research and Management
University Hospital in Motol
2013-2024
Charles University
2013-2024
University of Gothenburg
2017
Hospital for Sick Children
2015
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder of the central nervous system (CNS). Its immunopathogenesis has been proposed to include early cerebrospinal fluid (CSF) lymphocytosis, subsequent CNS disease restriction and B cell mechanism predominance. There are limited data regarding T involvement in disease. To contribute current knowledge, we investigated complex chemokines cytokines related functions CSF sera samples from anti-NMDAR patients at...
<h3>Objective</h3> The impetus for this consensus discussion was to recommend clinical trial designs that can deliver high-quality data effective therapies pediatric patients, in a reasonable timeframe, with key focus on short- and long-term safety. <h3>Methods</h3> International Pediatric Multiple Sclerosis Study Group convened meeting of experts review the advances understanding pediatric-onset multiple sclerosis (MS) advent trials population. <h3>Results</h3> In last few years, convincing...
Abstract Our study presents a novel germline c.1715G>T (p.G572V) mutation in the gene encoding Toll‐like receptor 8 ( TLR8 ) causing an autoimmune and autoinflammatory disorder family with monozygotic male twins, who suffer from severe hemolytic anemia worsening infections, autoinflammation presenting as fevers, enteritis, arthritis, CNS vasculitis. The pathogenicity of was confirmed by vitro assays on transfected cell lines primary cells. p.G572V causes impaired stability protein,...
Background The recognition of active inflammation in the central nervous system (CNS) absence infectious agents is challenging. present study aimed to determine diagnostic relevance five selected chemo/cytokines CNS and context traditional cerebrospinal fluid (CSF) biomarkers (white blood cell [WBC] counts, oligoclonal bands, protein levels, CSF/serum albumin ratios) clinical diagnoses. Methods C-C C-X-C motif ligands (CCL2, CXCL8, 10 13) interleukin (IL) 6 levels CSF serum from 37 control...
Abstract Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in axonemal chains, as well cytoplasmic light and intermediate have been linked with ciliary dyskinesia skeletal dysplasia. The 1 heavy chain protein (DYNC1H1) serves a core complex retrograde neuronal axons. Dominant pathogenic variants DYNC1H1 previously implicated peripheral neuromuscular disorders (NMD)...
Rasmussen encephalitis (RE) is a severe immune-mediated neurologic disease characterized by unihemispheric inflammation, progressive deficits, and intractable focal epilepsy. Functional hemispherectomy considered to be the only effective intervention for this devastating disease.1,2
Chemokines and cytokines in cerebrospinal fluid (CSF) serum have been extensively studied adults with neuroborreliosis (NB), whereas there are limited data about the pediatric population. In adults, T helper type 1 (Th1) Th17-related were observed during acute NB. children, Th2 response is thought to moderate disease course. The aim of this study was determine chemokine-cytokine profile children NB displaying Borrelia-related peripheral facial nerve palsy (PFNP).Luminex multiple bead...
Rasmussen encephalitis (RE) is a rare but devastating unihemispheric brain disorder that often affects children.1 The clinical picture characterized by intractable focal epilepsy and progressive decline of functions associated with the affected hemisphere.2 Despite its known inflammatory background T-cell involvement, immunotherapy appears to slow rather than halt disease progression, hemispherotomy be only solution for epilepsy.1–4 A potential early therapeutic window has been suggested,...
Abstract Background Immune-mediated mechanisms substantially contribute to the Rasmussen encephalitis (RE) pathology, but for unknown reasons, immunotherapy is generally ineffective in patients who have already developed intractable epilepsy; overall laboratory data regarding effect of on with RE are limited. We analyzed multiple samples from seven differently treated children and evaluated effects immunotherapies neuroinflammation. Immunotherapy was introduced all at time epilepsy they had...
Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report patient diagnosed prenatally and ventriculomegaly carrying novel, previously unreported, likely pathogenic variant in COL4A1. At the gestational age 27 weeks, dilation lateral ventricles was detected during routine prenatal ultrasound scan, confirmed by MRI at 30 + 3 weeks gestation. Prenatal examinations included amniocentesis conventional G-band karyotyping arrayCGH,...
Background/Purpose: We recently described magnetic resonance imaging (MRI) features of children with transverse myelitis (TM) at first event important and unique differences depending on the underlying disease entity.
Autoimunitní onemocnění centrálního nervového systému jsou potenciálně léčitelná.Jejich výskyt je u dětí vzácný a průběh bývá závažný.Klasifikace prochází vývojem, upravují se diagnostická kritéria formují terapeutické přístupy.Cílem je, aby diagnóza autoimunitního postižení byla stanovena co nejdříve mohla být zahájena adekvátní terapie.Text ve stručnosti přináší aktualizovaný pohled na nejčastější klinické
A two-year-old girl with an unremarkable family history was transferred to our tertiary care centre showcasing a severe dyselectrolytemia and suspicion of tubulopathy. She born healthy nonconsanguienous parents at 35 weeks gestation from dizygotic twins birth weight 2,550 g, polyhydramnios not reported. One week prior her admission department, she exhibited symptoms acute upper respiratory tract infection admitted the local hospital. Her physical examination showed mild dehydration, general...