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Neuropathology: Official Journal of the Japanese Society of Neuropathology

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https://www.readbyqxmd.com/read/30430658/intracranial-vascular-calcification-with-extensive-white-matter-changes-in-an-autopsy-case-of-pseudopseudohypoparathyroidism
#1
Tamaki Iwase, Mari Yoshida, Yoshio Hashizume, Ikuru Yazawa, Seishiro Takahashi, Takashi Ando, Toshimasa Ikeda, Kazuya Nokura
We herein report an autopsy case of a 69-year-old man with pseudopseudohypoparathyroidism. The patient suffered from mental retardation and spastic tetraparesis and had all the features of Albright's hereditary osteodystrophy with a normal response to parathyroid hormone in the Ellsworth-Howard test. Computed tomography demonstrated symmetrical massive brain calcification involving the bilateral basal ganglia, thalami, dentate nuclei and cerebral gray/white matter junctions, which was consistent with Fahr's syndrome...
November 14, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30411407/autopsied-centenarian-case-of-alzheimer-s-disease-combined-with-hippocampal-sclerosis-tdp-43-and-%C3%AE-synuclein-pathologies
#2
Yasushi Iwasaki, Akira Deguchi, Keiko Mori, Masumi Ito, Yoshinari Kawai, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Mari Yoshida
A Japanese woman showed slowly progressive memory disturbance starting at the age of 84 years, and disorientation gradually appeared. Head computed tomography revealed severe hippocampal atrophy, whereas the atrophy of the frontal lobe was considerably mild for her age. Behavioral and psychological symptoms of dementia were relatively inconspicuous during the disease course. Apolipoprotein E gene analysis showed ε3/ε4 heterozygosity. She died at the age of 100 years and she was clinically diagnosed as having Alzheimer's disease (AD)...
November 9, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30411412/hydroxychloroquine-induced-autophagic-vacuolar-myopathy-with-mitochondrial-abnormalities
#3
Shaweta Khosa, Negar Khanlou, Gurveer S Khosa, Shri K Mishra
Hydroxychloroquine (HCQ) and chloroquine are used worldwide for malaria as well as connective and rheumatological disorders. They have been reported to be linked to myopathy in patients. We report four patients who were receiving HCQ as part of treatment for connective tissue disorder and who presented with myopathy. The muscle biopsy in these patients was consistent with findings of HCQ toxicity. HCQ muscle toxicity is usually self-limiting after discontinuation of the drug. It also usually tends to be under-reported due to presence of various confounding factors...
November 8, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30402942/nuclear-abnormalities-in-vascular-myocytes-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil
#4
Dorota Dziewulska, Ewelina Nycz, Cecylia Rajczewska-Oleszkiewicz, Jacek Bojakowski, Dorota Sulejczak
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a stroke and dementia syndrome with degeneration and loss of vascular smooth muscle cells (VSMCs). The disease is due to mutations in NOTCH3 playing an important role in VSMC differentiation, proliferation and apoptosis. Searching for a possible cause of VSMC dysfunction in CADASIL, we investigated morphology and proliferative activity the affected myocytes. In material from autopsy brains and skin-muscle biopsies of patients with CADASIL diagnosis, assessment of VSMCs in arterial vessels at the level of light and electron microscopy was performed...
November 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30318820/distinct-microglia-profile-in-creutzfeldt-jakob-disease-and-alzheimer-s-disease-is-independent-of-disease-kinetics
#5
Katarina Krbot, Peter Hermann, Magdalena Krbot Skorić, Inga Zerr, Diego Sepulveda-Falla, Stefan Goebel, Jakob Matschke, Susanne Krasemann, Markus Glatzel
Activated microglia represent a common pathological feature of neurodegenerative diseases. Sporadic Creutzfeldt-Jakob disease (sCJD) patients show more pronounced microglial activation than Alzheimer's disease (AD) patients. Whether these differences are due to differences in disease kinetics or represent disease-specific changes is unknown. We investigated microglial phenotypes in brains of rapidly progressive AD (rpAD) and sCJD patients matched for clinical presentation, including disease duration. We immunostained the frontal cortex, basal ganglia and cerebellum in 16 patients with rpAD and sCJD using antibodies against markers of microglia and recruited monocytes (ionized calcium-binding adaptor molecule 1, human leukocyte antigen DPQR, Cluster of Differentiation 68), an antibody unique to brain-resident microglia (transmembrane protein 119 (TMEM119)), in addition to antibodies against a marker of astrocytes (glial fibrillary acidic protein), amyloid-β (Aβ) and pathological prion protein...
October 15, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30238518/brainstem-astroblastoma-with-mn1-translocation
#6
Sun Ah Shin, Bokyung Ahn, Seung-Ki Kim, Hyoung Jin Kang, Sumihito Nobusawa, Takashi Komori, Sung-Hye Park
Astroblastoma is a rare glial neoplasm that occurs mostly in the cerebral hemisphere of children, adolescents and young adults. Although astroblastic perivascular pseudorosettes are unique histopathology of this neoplasm, diagnosis is usually challenging. Recently, it was discovered that the meningioma 1 gene (MN1)-altered pediatric central nervous system high-grade neuroepithelial tumors are actually astroblastomas. This case report presents a rare brainstem astroblastoma, with an unusual immunoprofile: negative for glial fibrillary acidic protein and oligodendrocyte transcription factor 2, but with a robust expression of pancytokeratin and epithelial membrane antigen...
September 20, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30216556/autopsy-case-of-v180i-genetic-creutzfeldt-jakob-disease-presenting-with-early-disease-pathology
#7
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
#8
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
#9
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
#10
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
#11
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/30155921/case-of-primary-central-nervous-system-histiocytic-sarcoma-with-prominent-proliferation-of-histiocytic-cells-between-the-trabeculae-of-reactive-glial-cells
#12
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/30187543/novel-graded-traumatic-brain-injury-model-in-rats-induced-by-closed-head-impacts
#13
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...
October 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
#14
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...
October 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
#15
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...
October 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
#16
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...
October 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
#17
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...
October 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
#18
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...
October 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/30066398/localized-crystal-storing-histiocytosis-of-the-posterior-fossa
#19
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...
October 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
#20
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...
October 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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