A5085137380- Glioma Diagnosis and Treatment
- Advanced Neuroimaging Techniques and Applications
- Lysosomal Storage Disorders Research
- Advanced MRI Techniques and Applications
- Neuroblastoma Research and Treatments
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Fetal and Pediatric Neurological Disorders
- Neurofibromatosis and Schwannoma Cases
- Meningioma and schwannoma management
- RNA modifications and cancer
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Escherichia coli research studies
- Neurological diseases and metabolism
- Chromatin Remodeling and Cancer
- MRI in cancer diagnosis
- Neonatal and fetal brain pathology
- Vestibular and auditory disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Cerebrospinal fluid and hydrocephalus
- Infectious Encephalopathies and Encephalitis
- Tuberous Sclerosis Complex Research
- Genetic Syndromes and Imprinting
Great Ormond Street Hospital for Children NHS Foundation Trust
2019-2025
Boston Children's Hospital
2024
Children's Hospital of Philadelphia
2024
Great Ormond Street Hospital
2020-2024
University College London
2020-2024
Sorbonne Université
2024
Texas Children's Hospital
2024
Centre National de la Recherche Scientifique
2024
University Medical Center Hamburg-Eppendorf
2012-2021
Universität Hamburg
2012-2021
Neurological manifestations have been reported in adults with coronavirus disease 2019 (COVID-19), which is caused by the highly pathogenic virus severe acute respiratory syndrome 2 (SARS-CoV-2).To report neurological of children COVID-19.In this case-series study, patients younger than 18 years who presented SARS-CoV-2 infection and symptoms to Great Ormond Street Hospital for Children (London, UK) between March 1, 2020, May 8, were included after was confirmed either a quantitative reverse...
PFS occurs in approximately 25% of pediatric patients receiving surgery for midline posterior fossa tumors. Increasing evidence suggests that represents a complex supratentorial cortical dysfunction related to surgery-induced disruption critical cerebellocerebral connections. The purpose this study was determine whether consistent surgical damage pattern may be identified with by early postoperative anatomic imaging analysis the pECP and test DSC can detect corresponding changes cerebral...
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem arising from pathogenic variants in anchor pathway (GPI-AP) genes. Despite associating 24 at least 31 GPI-AP genes with human neurogenetic disease, prior reports limited to single without consideration the as whole and natural history data. In this multinational retrospective observational study, we systematically analyse molecular spectrum, phenotypic characteristics 83 individuals 75 unique...
<h3>BACKGROUND AND PURPOSE:</h3> Focal anaplasia characterized by T2 hypointensity, signal-intensity enhancement on postcontrast T1-weighted MR imaging and restricted water diffusion has been reported in a patient with juvenile pilocytic astrocytoma. We identified T2<sub>HOF</sub> these characteristics children DIPG hypothesized that represent areas of focal anaplasia; may, therefore, have increased perfusion properties should be perfusion. Thus, we used DSC to investigate our hypothesis....
Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting neurocognitive decline and improvement life expectancy, beneficial effect on skeletal system limited. As orthopedic complications are one most disabling factors following HSCT, this points to need new strategies. The study summarizes musculoskeletal manifestations in 19 transplanted patients.Data were obtained retrospectively. Patients' charts physical examinations joint range...
Abstract Cancer predisposition syndromes mediated by recessive cancer genes generate tumors via somatic variants (second hits) in the unaffected allele. Second hits may or not be sufficient for neoplastic transformation. Here we performed whole-genome and whole-exome sequencing on 479 tissue biopsies from a child with neurofibromatosis type 1, multisystem cancer-predisposing syndrome constitutive monoallelic NF1 inactivation. We identified multiple independent driver histologically normal...
<h3>BACKGROUND AND PURPOSE:</h3> Posterior fossa syndrome is a severe postoperative complication occurring in up to 29% of children undergoing posterior tumor resection; it most likely caused by bilateral damage the proximal efferent cerebellar pathways, whose fibers contribute Guillain-Mollaret triangle. When triangle disrupted, hypertrophic olivary degeneration develops. We hypothesized that MR imaging patterns inferior nucleus changes reflect pathways and show association with clinical...
The 5th edition of the World Health Organization Classification CNS tumors defines neuroblastoma FOXR2 in group embryonal tumors. Published clinical outcomes tend to suggest a favorable outcome after resection, craniospinal irradiation, and chemotherapy. This multicenter study aimed describe imaging features neuroblastoma-FOXR2, which have been poorly characterized thus far.On basis previously published cohort molecularly classified as patients with available data were identified. on...
Abstract Central nervous system neuroblastoma with FOXR2 activation (CNS NB FOXR2) has recently been described as a class of brain tumors sharing common genetic events and highly similar DNA methylation profile. Most these have previously diagnosed primitive neuroectodermal tumor (PNET). Whereas the entity PNET removed from WHO classification in its current edition, CNS was kept an entity, but still lacks any molecular detail. Here, we describe 8 cases focusing on histomorphological...
Distinct from signal alterations in diffusion-weighted images, T2-values are also dependent on tissue water content and known to increase with time symptom onset acute ischaemic stroke. The purpose of this study was evaluate whether there is a detectable different regions stroke the subacute situation effect recanalization evaluation phase. In addition, we sought reversible. For purpose, 22 patients territory middle cerebral artery underwent magnetic resonance imaging including imaging,...
Abstract Therapeutic trials for Neurodegeneration with Brain Iron Accumulation have aimed at a reduction of cerebral iron content. A 13‐year‐old girl mitochondrial membrane protein‐associated neurodegeneration treated an iron‐chelating agent was monitored by R2 relaxometry, R2* and quantitative susceptibility mapping to estimate the brain The highly increased content slowly decreased in substantia nigra but remained stable globus pallidus. estimated higher compared mapping, finding not...
<h3>BACKGROUND AND PURPOSE:</h3> Experimental therapies for ceroid lipofuscinosis, neuronal, 2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are currently being developed. Because quantitative descriptions the natural course volume loss needed to evaluate novel therapies, we performed MR imaging volumetry patients CLN2 identify suitable marker disease progression. <h3>MATERIALS METHODS:</h3> Thirteen (8 females, 5 males) were recruited from prospective...
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification associated postnatal neurological deterioration, led us study calcium metabolism cohort 42 children. In this study, we find that 74% patients had at least one abnormal measurement metabolism, the...
Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders. Recently, enzyme replacement therapy (ERT) was approved for neuronal lipofuscinosis type 2 (CLN2), subtype lipofuscinoses. The aim this study to quantify brain volume loss in CLN2 disease patients on ERT comparison with natural history cohort using MRI. Nineteen (14 female, 5 male) at 1 UK center were studied serial 3D T1-weighted MRI (follow-up time, 1-9 years). Brain segmentation performed FreeSurfer. Volume...
The article by Kawakami et al. demonstrated severe and irreversible neurological side effects in patients who received nelarabine prior to haploidentical stem cell transplantation 1. We report an 11-year-old boy with a second combined bone marrow (BM) central nervous system (CNS) relapse of his T acute lymphoblastic leukemia (T-;ALL) suffered fatal side-effects after one cycle treatment. Histopathologic examinations revealed necrotic changes the corresponding alterations MRI. At admission,...