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CLN6-related continuum phenotype caused by aberrant splicing.
Epilepsia Open
December 2024
Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies.
View Article and Find Full Text PDF-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
J Neurol Neurosurg Psychiatry
October 2024
Filière nationale, FILNEMUS, France.
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.
COVID-19 thromboinflammation: adding inflammatory fibrin to the puzzle.
Trends Immunol
October 2024
IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele (Milan), Italy. Electronic address:
Thromboinflammation is a peculiar and key component of acute COVID-19 pathogenesis, which contributes to long COVID. In a recent study, Ryu et al. demonstrate that the SARS-CoV-2 spike protein interacts with fibrinogen, promoting fibrin polymerization and its inflammatory activity.
View Article and Find Full Text PDFH3-Altered Diffuse Glioma of the Spinal Cord in Adult Patients: A Qualitative Systematic Review and Peculiarity of Radiological Findings.
J Clin Med
May 2024
Department of Neurosurgery, Fondazione Universitaria Policlinico Gemelli, 00168 Rome, Italy.
Primary spinal cord diffuse gliomas (SpDG) are rare tumors that may harbor, like diffuse intrinsic pontine gliomas (DIPG), H3 mutations. According to the WHO (2021), SpDGs are included in diffuse midline H3K27-altered gliomas, which occur more frequently in adults and show unusual clinical presentation, neuroradiological features, and clinical behavior, which differ from H3 G34-mutant diffuse hemispheric glioma. Currently, homogeneous adult-only case series of SpDG, with complete data and adequate follow-up, are still lacking.
View Article and Find Full Text PDFClinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective study.
Cancer Lett
April 2024
Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Five-year glioblastoma (GBM) survivors (LTS) are the minority of the isocitrate dehydrogenase (IDH)-wild-type GBM patients, and their molecular fingerprint is still largely unexplored. This multicenter retrospective study analyzed a large LTS-GBM cohort from nine Italian institutions and molecularly characterized a subgroup of patients by mutation, DNA methylation (DNAm) and copy number variation (CNV) profiling, comparing it to standard survival GBM. Mutation scan allowed the identification of pathogenic variants in most cases, showing a similar mutational spectrum in both groups, and highlighted TP53 as the most commonly mutated gene in the LTS group.
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