A5005178459- Tuberous Sclerosis Complex Research
- Polyomavirus and related diseases
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Histiocytic Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Peripheral Neuropathies and Disorders
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Medical Imaging and Pathology Studies
- Tumors and Oncological Cases
- Muscle activation and electromyography studies
- Myasthenia Gravis and Thymoma
- RNA Research and Splicing
- Nitric Oxide and Endothelin Effects
- Neurological Disorders and Treatments
- Chromatin Remodeling and Cancer
- Muscle metabolism and nutrition
- Autoimmune Neurological Disorders and Treatments
- Connective tissue disorders research
- Ethics and Legal Issues in Pediatric Healthcare
- Diet and metabolism studies
- Cytomegalovirus and herpesvirus research
Children's Memorial Health Institute
2014-2024
ERN GUARD-Heart
2021
University Medical Center Utrecht
2021
Instytut Matki i Dziecka
2009-2018
University of Cambridge
1993
Medical University of Warsaw
1978-1987
Institute of Psychiatry and Neurology
1984-1985
Epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly the first year age. Early manifestation epilepsy is associated drug-resistant and mental retardation more than 80% patients. Clinical epileptic seizures are preceded by deterioration EEG recording thus infants high risk can be identified.We hypothesized that preventative antiepileptic treatment multifocal activity on might lower incidence retardation.Forty-five early diagnosis complex were included...
Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant medication. Recently, the concept preventive antiepileptic treatment modify natural history epilepsy has been proposed. EPISTOP was a clinical trial designed compare versus conventional TSC infants. Methods In this multicenter study, 94 infants without seizure were followed monthly video electroencephalography (EEG), received vigabatrin either as treatment, started after first...
Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated the development benign tumors in several organs. It also characterized by high rates neurological neuropsychiatric abnormalities, including epilepsy affecting 70–90% patients being one major risk factors intellectual disability. The first seizures TSC appear usually between 4th 6th months life. Recent studies have shown beneficial role preventative antiepileptic treatment patients,...
BackgroudDrug-resistant epilepsy is the main risk factor for future intellectual disability in patients with tuberous sclerosis complex. Clinical epileptic seizures are often preceded by electroencephalographic changes, which provide an opportunity preventive treatment. We evaluated neuropsychologic and outcomes at school age children complex who received antiepileptic treatment infancy.MethodsWe performed a prospective, nonrandomized clinical trial 14 infants diagnosed whom serial...
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed identify the early clinical markers of ASD and/or developmental delay (DD) an diagnosis TSC. We prospectively evaluated 82 TSC (6-24 months age), using a detailed neuropsychological assessment (Bayley Scales Infant Development-BSID, and Diagnostic Observation Schedule-ADOS), context EPISTOP...
Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in second decade of life, but may develop the first months life. The aim this work was to establish incidence, clinical features, and outcome congenital SEGA TSC patients. Cohort 452 patients reviewed identify cases growing or hydrocephalus producing SEGAs 3 Clinical presentation, size tumor, growth rate, mutational analysis, treatment applied, were analyzed. Ten...
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by mammalian target of rapamycin (mTOR) activation and growth benign tumors. Some TSC lesions, such as cardiac rhabdomyomas cortical tubers in the brain, occur fetuses, some, renal angiomyolipomas (AMLs) skin angiofibromas, develop over years. Recently, mTOR inhibitor everolimus was shown to be effective treatment subependymal giant cell astrocytomas (a brain tumor) AMLs (kidney tumors) patients. We present monozygotic twin...
Abstract Objective To evaluate the relationship between age at seizure onset and neurodevelopmental outcome 24 months in infants with TSC, as well effect on of early versus conventional treatment epileptic seizures vigabatrin (80–150 mg/kg/day). Methods Infants aged ≤4 without previous were enrolled a prospective study closely followed monthly video EEG serial standardized testing (Bayley Scales Infant Development Autism Diagnostic Observation Schedule). Results Eighty enrolled. At...
To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children tuberous sclerosis complex (TSC) to improve prenatal counseling.This retrospective cohort study was performed a collaboration between centers the EPISTOP consortium. We included definite TSC, MRIs, available follow-up data age. A pediatric neuroradiologist masked patient's clinical evaluated all MRIs. MRIs were categorized for each 10 lobes as...
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....
Segregation analysis was performed on 354 cases of chronic proximal spinal muscular atrophy childhood and adolescence (CPSMA) in the total series a number subgroups formed according to age at onset sex. The provided evidence sex influence studied, particularly subgroup milder form disease with between 37th month 18th year life. In latter subgroup, females were affected much less frequently. This striking after 8 years, only exceptionally 13 years. These facts point incomplete penetrance gene.
Tuberous sclerosis complex (TSC), a rare genetic disorder caused by mutation in the TSC1 or TSC2 gene, is characterized growth of hamartomas several organs. This includes low-grade brain tumors, known as subependymal giant cell astrocytomas (SEGA). Previous studies have shown differential expression genes related to extracellular matrix SEGA. Matrix metalloproteinases (MMPs), and their tissue inhibitors (TIMPs) are responsible for remodeling associated with tumorigenesis. study aimed...
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...
Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures of the Achilles tendons, elbows, and postcervical muscles, (2) slowly progressive muscle wasting weakness with a predominantly humeroperoneal distribution in stages, (3) cardiomyopathy conduction defects risk sudden death. Inheritance usually X linked recessive but can be autosomal dominant. Family linkage studies have mapped EMD to distal long arm chromosome precise genetic localisation has been hampered...
Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target Rapamycin (mTOR). Common TSC features include brain lesions, such as cortical tubers subependymal giant cell astrocytomas (SEGAs). However, the current treatment with mTOR inhibitors has critical limitations. We aimed to identify new targets for pharmacotherapy. The results our shRNA screen point glutamate-cysteine ligase catalytic subunit (GCLC),...
Background Epilepsy develops in 70–90% of children with Tuberous Sclerosis Complex (TSC) and is often resistant to medication. Treatment mTOR pathway inhibitors an important therapeutic option drug-resistant epilepsy associated TSC. Our study evaluated the antiepileptic effect rapamycin pediatric population patients diagnosed Methods This single center, open-label safety anti-epileptic efficacy 12 months treatment 32 aged from 11 14 years TSC- epilepsy. Results After first 6 treatment,...