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Neuropathology: Official Journal of the Japanese Society of Neuropathology

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https://www.readbyqxmd.com/read/30216556/autopsy-case-of-v180i-genetic-creutzfeldt-jakob-disease-presenting-with-early-disease-pathology
#1
Yasushi Iwasaki, Hiroko Kato, Tetsuo Ando, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Tetsuyuki Kitamoto, Mari Yoshida
The patient was a Japanese woman who experienced a decrease in activity and gait disturbance as the initial symptoms at the age of 86, followed by disorientation and memory dysfunction. Magnetic resonance imaging showed extensive cortical regions with hyperintensity in diffusion-weighted images, and these regions showed swelling in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images. The medial occipital cortex and striatum showed no apparent hyperintensity on diffusion-weighted imaging (DWI)...
September 14, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30215888/first-descriptions-of-tuberous-sclerosis-by-d%C3%A3-sir%C3%A3-magloire-bourneville-1840-1909
#2
EDITORIAL
Francesco Brigo, Simona Lattanzi, Eugen Trinka, Raffaele Nardone, Nicola L Bragazzi, Martino Ruggieri, Mariano Martini, Olivier Walusinski
No abstract text is available yet for this article.
September 14, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30215870/dynactin-is-involved-in-lewy-body-pathology
#3
Chang Shen, Hiroyuki Honda, Satoshi O Suzuki, Norihisa Maeda, Masahiro Shijo, Hideomi Hamasaki, Naokazu Sasagasako, Naoki Fujii, Toru Iwaki
Dynactin forms a protein complex with dynein that retrogradely transports cargo along microtubules. Dysfunction of this dynein-dynactin complex causes several neurodegenerative diseases such as Perry syndrome, motor neuron diseases and progressive supranuclear palsy. Recently, we reported colocalization of phosphorylated α-synuclein (p-SNCA) and the largest subunit of dynactin (DCTN1) in Lewy body (LB)-like structures in Perry syndrome. Previous reports have not focused on the relationship between dynactin and synucleinopathies...
September 14, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30187580/expanding-the-spectrum-of-pediatric-ntrk-rearranged-fibroblastic-tumors-to-the-central-nervous-system-a-case-report-with-rbpms-ntrk3-fusion
#4
Matthew Torre, Nicholas Jessop, Jason L Hornick, Sanda Alexandrescu
We report a case of a 20-month-old male presenting with seizures who was found to have a hyperintense lesion on T2-weighted images of magnetic resonance imaging in the left medial temporal lobe that was initially clinically and radiologically thought to be either low-grade glioma or focal cortical dysplasia. Histologic, immunohistochemical and molecular evaluation (array comparative genomic hybridization, Archer fusion panel) of the resection specimen demonstrated a highly infiltrative fibroblastic spindle cell neoplasm with mild nuclear atypia and an RBPMS-NTRK3 fusion...
September 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30187570/xanthomatous-meningioma-a-metaplastic-or-degenerative-phenomenon
#5
Yin Ping Wong, Geok Chin Tan, Ramesh Kumar
Xanthomatous changes can be observed in various conditions including primary xanthomatosis that is linked to an underlying hypercholesterolemia and more commonly associated with secondary xanthomatous degenerative processes in neoplasm and chronic inflammation. Meningioma with extensive xanthomatous change is exceedingly rare. The presence of cholesterol clefts within this peculiar meningioma subtype has not been described. Herein, we report an unusual case of xanthomatous meningioma in an 83-year-old normolipidemic woman, who presented to us with worsening lower limb weakness and global aphasia...
September 5, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30187543/novel-graded-traumatic-brain-injury-model-in-rats-induced-by-closed-head-impacts
#6
Hao Wang, Xiyan Zhu, Zhikang Liao, Hongyi Xiang, Mingliang Ren, Minhui Xu, Hui Zhao
Traumatic brain injury (TBI) is a leading cause of death and disability worldwide. Due to the heterogeneity of human TBI, none of the available animal models can reproduce the entire spectrum of TBI. This study was designed to develop a novel-graded TBI rat model which is induced by closed head impacts (CHI) with reproducible brain damage and neurological dysfunction. A total of 75 male Sprague-Dawley rats (200 ± 20 g) were randomly equally divided into five groups: the Sham, 0.5, 0.6, 0.7 and 0.8 MPa groups...
September 5, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30155928/reproducibility-of-the-nanostring-22-gene-molecular-subgroup-assay-for-improved-prognostic-prediction-of-medulloblastoma
#7
Letícia F Leal, Adriane F Evangelista, Flávia E de Paula, Gisele Caravina Almeida, Adriana C Carloni, Fabiano Saggioro, João N Stavale, Suzana M F Malheiros, Bruna Mançano, Marco A de Oliveira, Betty Luu, Luciano Neder, Michael D Taylor, Rui M Reis
Medulloblastoma is the most frequent malignant brain tumor in children. Four medulloblastoma molecular subgroups, MBSHH , MBWNT , MBGRP3 and MBGRP4 , have been identified by integrated high-throughput platforms. Recently, a 22-gene panel NanoString-based assay was developed for medulloblastoma molecular subgrouping, but the robustness of this assay has not been widely evaluated. Mutations in the gene for human telomerase reverse transcriptase (hTERT) have been found in medulloblastomas and are associated with distinct molecular subtypes...
August 28, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30155921/case-of-primary-central-nervous-system-histiocytic-sarcoma-with-prominent-proliferation-of-histiocytic-cells-between-the-trabeculae-of-reactive-glial-cells
#8
Emiko Takahashi, Ayako Sakakibara, Toyonori Tsuzuki, Shigeo Nakamura
Histiocytic sarcoma (HS) is an extremely rare malignant neoplasm that exhibits morphologic and immune-phenotype evidence of histiocytic differentiation. The disease most commonly involves the lymph nodes, gastrointestinal tract, skin, and soft tissue, as well as in the central nervous system (CNS) being relatively rare. Here we report a case of primary CNS HS with unusual histopathological characteristics. A 65-year-old woman presented with CNS HS in the left frontal lobe region, showing two distinct histological patterns...
August 28, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30123989/autopsy-proven-case-of-paraneoplastic-lower-motor-neuron-disease-with-sensorimotor-neuropathy-due-to-waldenstr%C3%A3-m-s-macroglobulinemia
#9
Yasuhiro Suzuki, Hitoshi Aizawa, Kento Sakashita, Hideaki Kishi, Kenta Nomura, Kosuke Yoshida, Yoko Aburakawa, Kenji Kuroda, Chisato Murakami, Yasutaka Kakinoki, Takashi Kimura
We report a case of a male patient with a 19-year history of monoclonal and later polyclonal gammopathy who subsequently developed tetraparesis, bulbar palsy, and respiratory failure. Autopsy findings showed degeneration of the hypoglossal nuclei, prominent neuronal loss and atrophy in the anterior horn of the whole spinal cord despite the presence of mild astrocytosis, degeneration of the gracilis on one side, and infiltration of inflammatory cells, which included B cells and plasma cells in the anterior and posterior roots of the lumbar spinal cord, iliopsoas muscle, and perivascular area of the cervical cord...
August 19, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30123962/sporadic-creutzfeldt-jakob-disease-with-glial-prp-res-nuclear-and-perinuclear-immunoreactivity
#10
Ivan Fernández-Vega, Daniela Díaz-Lucena, Itxaso Azkune Calle, Maria Geijo, Ramon A Juste, Franc Llorens, Ikerne Vicente Etxenausia, Jorge Santos-Juanes, Juan Jose Zarranz Imirizaldu, Isidro Ferrer
Proteinase K-resistant prion protein (PrPRes ) nuclear and perinuclear immunoreactivity in oligodendrocytes of the frontal cortex is found in one case of otherwise typical sporadic Creutzfeldt-Jakob disease (sCJD) type VV2a. The PrP nature of the inclusions is validated with several anti-PrP antibodies directed to amino acids 130-160 (12F10), 109-112 (3F4), 97-102 (8G8) and the octarepeat region (amino acids 59-89: SAF32). Cellular identification and subcellular localization were evaluated with double- and triple-labeling immunofluorescence and confocal microscopy using antibodies against PrP, glial markers, and histone H3...
August 19, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30123961/metformin-exacerbates-and-simvastatin-attenuates-myelin-damage-in-high-fat-diet-fed-c57bl-6-j-mice
#11
Darko Ciric, Tamara Martinovic, Sasa Petricevic, Vladimir Trajkovic, Vladimir Bumbasirevic, Tamara Kravic-Stevovic
Diabetic neuropathy is one of the most deleterious complications of diabetes mellitus in humans. High fat diet (HFD)-fed C57BL/6 J mice are a widely used animal model for type 2 diabetes mellitus and metabolic syndrome. We investigated the effects of metformin and simvastatin on the ultrastructural characteristics of sciatic nerve fibers in these mice. Metformin treatment increased the number of structural defects of the myelin sheet surrounding these fibers in already affected nerves of HFD fed mice, and simvastatin treatment reduced these numbers to the levels seen in control mice...
August 19, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30084170/autopsied-case-of-non-plaque-type-dura-mater-graft-associated-creutzfeldt-jakob-disease-presenting-with-extensive-amyloid-%C3%AE-deposition
#12
Yasushi Iwasaki, Kazuhiro Imamura, Katsushige Iwai, Yasushi Kobayashi, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Tetsuyuki Kitamoto, Mari Yoshida
We present an autopsied case of non-plaque-type dura mater graft-associated Creutzfeldt-Jakob disease (dCJD) with extensive amyloid-β (Aβ) deposition in the brain. A 39-year-old Japanese woman presented with memory disturbance and abnormal behavior. The patient had a history of craniotomy with dura matter-graft transplant for a head injury which occurred when she was 19 years old. Magnetic resonance imaging (MRI) showed hyperintensities in the cerebral cortex and striatum on diffusion-weighted images, particularly on the dura mater-grafted right side...
August 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30066398/localized-crystal-storing-histiocytosis-of-the-posterior-fossa
#13
Margaret E Flanagan, Christopher Dirk Keene, David N Louis, Gordana Juric-Sekhar
Crystal-storing histiocytosis (CSH) is an uncommon histiocytic proliferation reported to involve diverse organs and tissues, but involvement of the central nervous system (CNS) is rare. In most cases CSH is identified in association with underlying lymphoproliferative, plasma cell diseases or rarely with various inflammatory or infectious conditions. CSH is characterized by the cytoplasmic accumulation of crystalline material in histiocytes, most commonly of kappa immunoglobulin light chain. We report a unique case of localized CSH involving the left cerebellum and caudal brain stem in a young man with a history of gout but without known lymphoproliferative or plasma cell disorders...
July 31, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30051533/low-grade-neuroepithelial-tumor-unusual-presentation-in-an-adult-without-history-of-seizures
#14
Giulio Riva, Luca Cima, Manuela Villanova, Claudio Ghimenton, Sokol Sina, Luca Riccioni, Giada Munari, Matteo Fassan, Felice Giangaspero, Albino Eccher
Low-grade neuroepithelial tumors (LGNT) show a broad histopathological spectrum and may be difficult to classify using current World Health Organization (WHO) criteria. A 57-year-old man came to medical attention because of headaches. The patient medical history was otherwise unremarkable. Magnetic resonance imaging (MRI) revealed a 2.5 cm lesion, partially cystic, with an increased signal on T2-weighted imaging, located in the right frontal lobe. The patient underwent right frontal craniotomy and the surgical specimen was entirely evaluated...
July 26, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30039530/novel-case-of-recurrent-intraventricular-atypical-central-neurocytoma-with-prominent-gangliogliomatous-differentiation-in-a-10-year-old-boy-with-10-years-of-follow-up
#15
Char-Loo Tan, Daniel Landi, Herbert Fuchs, Roger E McLendon
Central neurocytoma is a rare neuronal tumor that typically occurs in young adults. Infrequently, these tumors exhibit advanced neuronal maturation and glial differentiation, giving rise to a histologically diverse tumor, in contrast to a typical central neurocytoma. We present a novel case of intraventricular central neurocytoma with prominent gangliogliomatous differentiation that developed atypical features upon recurrence after 10 years of follow up in a 10-year-old boy. Our case provides insight into the divergent differentiation capability of a neurocytic tumor and illustrates the diverse histological features of this rare entity...
July 24, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30011089/late-onset-hereditary-sensory-and-autonomic-neuropathy-expands-the-phenotypic-spectrum-of-mfn2-related-diseases
#16
Rui Wu, Jun Fu, Lingchao Meng, He Lv, Zhaoxia Wang, Yun Yuan
Mutations in the Mitofusin 2 (MFN2) gene have been identified in patients with autosomal dominant axonal motor and sensory neuropathy or Charcot-Marie-Tooth 2A (CMT2A). Here we describe clinical and pathological changes in an adult patient with sporadic hereditary sensory and autonomic neuropathy (HSAN) due to an MFN2 mutation. The patient was a 53-year-old man who had sensory involvement and anhidrosis in all limbs without motor features. The electrophysiological assessment documented severe axonal sensory neuropathy...
July 16, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29989215/supratentorial-capnon-associated-with-who-grade-ii-meningioma-a-case-report
#17
Michael A Paolini, Mai-Lan Ho, Hannah R Monahan, Aditya Raghunathan
Calcifying pseudoneoplasm of the neuraxis (CAPNON) is a rare benign tumor of uncertain etiology, arising in the craniospinal axis. CAPNON typically arises in isolation, with only two prior reports of a concurrent second neoplasm. Here, we report the case of a male 17-year-old who presented with new-onset seizures. MRIs revealed a 2 cm extra-axial solid-cystic mass, arising at the left temporo-occipital junction and abutting the dura with marked surrounding parenchymal vasogenic edema. The solid components demonstrated dense calcification and avid enhancement...
July 10, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29974522/intra-arterial-spread-of-mucormycetes-mediates-early-ischemic-necrosis-of-brain-and-suggests-new-venues-for-prophylactic-therapy
#18
Sergei I Bannykh, Brice Hunt, Franklin Moser
Intracranial invasion by Mucormycosis carries high mortality mostly related to arterial occlusion and ischemic necrosis. We report clinical, imaging and autopsy findings in an adult immunodeficiency syndrome (AIDS) patient with fungal infection extending from a tooth. We report a striking discordance between a restriction of fungal growth to the initial branches of the circle of Willis and extensive ischemic infarcts of deep brain structures. This lends to a suggestion of apparently lost opportunities for brain salvage and prompts a re-assessment of clinical approaches to treat mucormycosis...
July 4, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29961958/mitochondrial-dysfunction-and-altered-ribostasis-in-hippocampal-neurons-with-cytoplasmic-inclusions-of-multiple-system-atrophy
#19
Norihisa Maeda, Hiroyuki Honda, Satoshi O Suzuki, Naoki Fujii, Jun-Ichi Kira, Toru Iwaki
Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disease. It has recently been shown that patients with MSA accompanied by cognitive decline display numerous neuronal cytoplasmic inclusions (NCIs) in the limbic neurons. We examined potential mechanisms underlying the formation of these NCIs by determining of mitochondrial function and statuses of RNA processing by analyzing 12 pathologically confirmed cases of MSA. Among them, four had cognitive impairment Semiquantitative evaluation using immunohistochemistry analyses revealed a significantly greater NCI burden in the hippocampal cornu ammonis 1 (CA1) subfield, subiculum, and amygdala in the cases with cognitive impairments compared with those without cognitive impairment...
July 1, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29952031/carbonic-anhydrase-ix-is-a-prognostic-biomarker-in-glioblastoma-multiforme
#20
Bulent Cetin, Ipek Isık Gonul, Ozge Gumusay, Irem Bilgetekin, Efnan Algin, Ahmet Ozet, Aytug Uner
The identification of prognostic factors in patients with glioblastoma multiforme (GBM) represents an area of increasing interest. Carbonic anhydrase IX (CA-IX), a hypoxia marker, correlates with tumor progression in a variety of human cancers. However, the role of CA-IX in GBM remains largely unknown. In the present study, we evaluated the prognostic role of CA-IX in GBM patients. In total, 66 consecutive patients with GBM who received concomitant chemoradiotherapy and adjuvant chemotherapy with temozolomide were retrospectively reviewed, and all patients received temozolomide chemotherapy for at least 3 months...
June 28, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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