1,721,156 research outputs found
Emerging new entities and variants of tumors of CNS neoplasms
No full textAbstract. Since the appearance in 2000 of the World Health Organization (WHO) classification for central nervous system (CNS) neoplasms, numerous descriptions of new entities or variants have appeared in the literature. In the group of neuronal and mixed glioneuronal neoplasms are lesions with distinctive morphological features that are still not included in a precise classification, including extraventricular neurocytoma, papillary glioneuronal tumor, rosette-forming glioneuronal of the fourth ventricle, glioneuronal with neuropil-like rosette, and DNT-like tumor of the septum pellucidum. The glioneuronal tumor with neuropil-like rosette and oligodendroglioma with neurocytic differentiation represent morphological variants of genetically proven diffuse gliomas. The lipoastrocytoma and the pilomixoid astrocytoma enlarge the group of astrocytic lesions. Rare, low-grade gliomas of the spinal cord with extensive leptomeningeal dissemination associated with unusual neuroimaging are described. The chordoid glioma of the third ventricle and the papillary tumor of the pineal region seem to be correlated by a common histogenesis from the specialized ependyma of the subcommissural organ. An embryonal tumor with neuropil and true rosettes combining features of neuroblastoma and ependymoblastoma is discussed. These new, recently described lesions indicate that the complex morphologic spectrum of CNS tumors is far from being completely delineated
Muscle Pathology in Biopsy of MuSK-Ab Positive Myasthenic Patients Shows Mitochondrial Abnormalities
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LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism.
Full text linkLimb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous diseases presenting with a wide clinical spectrum. Autosomal dominant LGMDs represent about 10-15% of LGMDs and include disorders due to defects of DNAJB6, transportin-3 (TNPO3), HNRNPDL, Calpain-3 (CAPN3), and Bethlem myopathy. This review article aims to describe the clinical spectrum of LGMD D2 TNPO3-related, a rare disease due to heterozygous mutation in the TNPO3 gene. TNPO3 encodes for transportin-3, which belongs to the importin beta family and transports into the nucleus serine/arginine-rich (SR) proteins, such as splicing factors, and HIV-1 proteins, thus contributing to viral infection. The purpose of this review is to present and compare the clinical features and the genetic and histopathological findings described in LGMD D2, performing a comparative analytical description of all the families and sporadic cases identified. Even if the causative gene and mutations of this disease have been identified, the pathogenic mechanisms are still an open issue; therefore, we will present an overview of the hypotheses that explain the pathology of LGMD D2 TNPO3-related
Acute kidney injury and bilateral renal enlargement: a sonography matter
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Plasma Welll Interaction Physics in Ignitor
No full textThe introduction of a proper divertor in meaningful fusion burn experiments is at times advocated with the argument that it addresses the rcactor relevant issue of ash and impurity control and it allows easier access to the H-mode regime. On the other hand, a divettor decreases the volume available for the plasnna and introduces structutes that have to withstand high thermal wall loadings and the effects of disruptions in a high magnetic field environment. Other related questions are whether the density profiles that characterize the H-regime, for which a divertor is introduced, are optimal for ignition, whether the divertor has indeed led to cleaner core plasmas than those produced in limiter devices , and whether other means to remove the alfa-particles produced by fusion reactions, e.g. during their slowing down, are more appropriate even in principle. In the Ignitor operating scenario of reference, ignition can be reached by ohmic heating only. The edge conditions are characterized by relatively low temperatures and high densities. In high density regimes , an extensive series of experiments has observed a low level of impurity in the plasma core, thanks to both reduced sputtering from the wall and improved screening properties of the adjacent plasma. Radiation losses gain importance in dissipating the power leaving the main plasma and the whole scrape off layer contributes in dispersing the energy of the particles impinging on the material walls, even without the introduction of additional impurities. Therefore, the extended limiter solution, with the plasma wetting a large fraction of the first wall surface, has been preferred over that of a traditional divertor configuration
Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies
No full textPatients with myasthenia gravis (MG) with antibodies to muscle-specific receptor tyrosine kinase (MuSK) differ from acetylcholine receptor (AChR)-positive MG patients, as they frequently present with severe oculobulbar muscle weakness or with neck, shoulder, and respiratory muscle involvement. The neuromuscular junction (NMJ) has been confirmed to be the main target of both AChR- and MuSK-MG. However, histopathological investigation disclosed that muscle fiber atrophy was prevalent in AChR-MG, whereas mild myopathic changes and mitochondrial abnormalities were more frequently observed in MuSK-MG. As the pathogenetic mechanism in MuSK-MG remains unclear, this study investigated the submicroscopic pattern of muscle histopathology to establish a possible correlation between clinical involvement and subcellular morphological findings. Muscle biopsies from seven MuSK-MG patients and from seven patients with AChR-MG were analyzed by transmission electron microscopy. Myopathic and mitochondrial abnormalities were more prominent in MuSK-MG and show giant, swollen, and degenerated mitochondria with fragmented cristae. The most common changes in AChR-MG muscles were fiber atrophy, myofibrillar disarray, and Z-line streaming, consistent with mild neurogenic abnormalities. A different pathogenetic mechanism is emerging in MuSK-MG compared to AChR-MG. Mitochondrial abnormalities seem to be more prominent in MuSK-MG, whereas neurogenic atrophy is observed in AChR-MG
Neuronal Nitric Oxide Synthase (nNOS) activity and ultrastructural changes in caveolin-3 deficient muscle cause mechanical irritability.
No full textSU UN CASO DI MACROADENOMA SILENTE IPOFISARIO A CELLULE GH DI TIPO "SPARSELY GRANULATED" CON ESPRESSIONE DI NEUROFILAMENTI
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