16 research outputs found

    Intervertebral disc embolization resulting in spinal cord infarction

    Get PDF
    Journal ArticleA case of spinal cord infarction resulting from embolization of fibrocartilaginous intervertebral disc material is presented. Cases from the literature are reviewed and the theories of pathogenesis are discussed. In all reported cases the diagnosis was not made until postmortem examination

    GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

    Get PDF
    GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE are pathogenic and this clinical phenotype can be difficult to differentiate clinically from other late-onset myopathies. We describe two families with novel mutations in GNE, and describe their clinical and MRI features. We also describe the presence of striking paraspinal muscle involvement on MRI of the lumbar spine, which is an under-recognized feature of GNE myopathy

    Oligodendroglial neoplasms with ganglioglioma-like maturation: a diagnostic pitfall

    Get PDF
    Although oligodendroglial neoplasms are traditionally considered purely glial, increasing evidence suggests that they are capable of neuronal or neurocytic differentiation. Nevertheless, ganglioglioma-like foci (GGLF) have not been previously described. Herein, we report seven examples where the primary differential diagnosis was a ganglioglioma with an oligodendroglial component. These five male and two female patients ranged in age from 29 to 63 (median 44) years at initial presentation and neuroimaging features were those of diffuse gliomas in general. At presentation, the glial component was oligodendroglioma in six and oligoastrocytoma in one; one was low-grade and six were anaplastic. A sharp demarcation from adjacent GGLF was common, although some intermingling was always present. The GGLF included enlarged dysmorphic and occasionally binucleate ganglion cells, Nissl substance, expression of neuronal antigens, GFAP-positive astrocytic elements, and low Ki-67 labeling indices. In contrast to classic ganglioglioma, however, cases lacked eosinophilic granular bodies and CD34-positive tumor cells. Scattered bizarre astrocytes were also common and one case had focal neurocytic differentiation. By FISH analysis, five cases showed 1p/19q codeletion. In the four cases with deletions and ample dysmorphic ganglion cells for analysis, the deletions were found in both components. At last follow-up, two patients suffered recurrences, one developed radiation necrosis mimicking recurrence, and one died of disease 7.5 years after initial surgery. We conclude that GGLF represents yet another form of neuronal differentiation in oligodendroglial neoplasms. Recognition of this pattern will prevent a misdiagnosis of ganglioglioma with its potential for under-treatment

    MOESM4 of Reduced antiretroviral drug efficacy and concentration in HIV-infected microglia contributes to viral persistence in brain

    No full text
    Additional file 4.  Differentiated THP-1 cells were infected with HIV-1 YU-2 and SF162. DNA was extracted from infected cells and used to establish the integration assay (A). Host genes expression from patients 1 and 2 compared to uninfected controls measured by quantitative RT-PCR for, (B) CD163, (C) IL6, (D) TNFA, (E) APOBEC3G, (F) MX2, (G) MX1 and (H) BST2
    corecore