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Neuropathology: Official Journal of the Japanese Society of Neuropathology

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https://www.readbyqxmd.com/read/28185325/a-case-of-high-grade-astrocytoma-with-braf-and-atrx-mutations-following-a-long-standing-course-over-two-decades
#1
Satoshi Nakata 中田 聡, Keishi Horiguchi, Shogo Ishiuchi, Yuhei Yoshimoto, Seiji Yamada, Sumihito Nobusawa, Hayato Ikota, Junko Hirato, Hideaki Yokoo
Pediatric high-grade gliomas are rare and occasionally hard to classify. These tumors often feature a well-demarcated histology and are expected to have a better outcome than ordinary diffuse high-grade gliomas in adults. We herein report a case of circumscribed high-grade glioma that showed a distinct molecular profile and followed an excellent course for 26 years. The patient, a 3-year-old boy at onset, presented with a contrast-enhancing mass in the right temporal lobe and underwent resection. Histologically, the tumor mainly consisted of compact bundles of GFAP-positive spindle cells...
February 9, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28168741/comparison-of-at8-immunoreactivity-in-the-locus-ceruleus-and-hippocampus-of-154-brains-from-routine-autopsies
#2
Koichi Okamoto, Masakuni Amari, Toshio Fukuda, Keiji Suzuki, Masamitsu Takatama
We compared semiquantitatively AT8 immunoreactivity in the locus ceruleus (LC) and hippocampus of 154 brains from routine autopsies to investigate the initial sites of phosphorylated tau (phospho-tau) development. The numbers of AT8-positive neurons and the severity of AT8-positive neuropil threads (NTs) in the LC were strongly associated: there were no cases with AT8-positive neurons that lacked NTs and 20 cases (13%) had only NTs in the LC. Phospho-tau pathologies in the LC were almost equally on both sides, although some cases (7...
February 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28168739/intracranial-neuromuscular-choristoma-report-of-a-case-with-literature-review
#3
Antonella Coli, Mariangela Novello, Gianpiero Tamburrini, Manila Antonelli, Felice Giangaspero, Libero Lauriola
Neuromuscular choristoma (NMC), also called neuromuscular hamartoma or nerve rhabdomyoma, is a rare lesion of the spinal and cranial nerves composed of skeletal muscle intimately associated with nerve fibers. Its origin has not been precisely clarified and a malformative event, resulting from aberrant differentiation or a true neoplastic growth, have been proposed by authors. We hereby present a cerebellopontine angle NMC enlarging the eighth cranial nerve in a 3-year-old child, that histologically appeared composed of a large amount of striated muscle mixed with nerve fibers...
February 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28144989/dentatorubral-pallidoluysian-atrophy-drpla-with-a-small-ganglioglioma-component-containing-neurofibrillary-tangles-and-polyglutamine-aggregation
#4
Seiji Yamada, Tatsuya Yamazaki, Satoshi Nakata, Sumihito Nobusawa, Hayato Ikota, Munenori Ide, Kazuyuki Mizushima, Yasuo Harigaya, Junko Hirato, Hideaki Yokoo
Dentatorubral-pallidoluysian atrophy (DRPLA), one of the polyglutamine diseases, has not been reported in combination with ganglioglioma (GG). Herein, we report an autopsy case of a 72-year-old man with DRPLA with a small GG component harboring neurofibrillary tangles (NFTs) and polyglutamine aggregates. NFTs, cytoplasmic accumulations of hyper-phosphorylated tau, are mainly observed in Alzheimer's disease (AD) and other tau-associated neurodegenerative disorders. NFTs can also be present in normal aging, and are occasionally observed in low-grade central nervous system (CNS) neoplasms such as GG...
January 31, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28139865/silencing-of-otub1-inhibits-migration-of-human-glioma-cells-in-vitro
#5
Li Xu, Jinquan Li, Zhen Bao, Peng Xu, Hao Chang, Jingjing Wu, Yuanqi Bei, Liuwan Xia, Peizhang Wu, Ke Yan, Bing Lu, Gang Cui
OTU domain-containing ubiquitin aldehyde-binding protein 1 (OTUB1) protein, a deubiquitinating enzyme (DUB) which belongs to the ovarian tumor (OTU) family, was reported to be associated with the development of various malignancies. However, the potential function of OTUB1 in human gliomas was still unclear. In this study, we sought to investigate the function of OTUB1 in the pathological process of gliomas and analyze its related clinical significance. Western blot and immunohistochemistry analyses demonstrated that OTUB1 was overexpressed in glioma tissues, and statistical analysis suggested the expression level of OTUB1 was significantly correlated with the WHO grades of human gliomas (P < 0...
January 31, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28124385/up-regulation-of-plakophilin-2-is-correlated-with-the-progression-of-glioma
#6
Degeng Zhang, Yuxia Qian, Xiaoxing Liu, Hong Yu, Niangao Zhao, Zhengdong Wu
Glioma is the most common type of primary brain tumor in the CNS. Due to its poor prognosis and high mortality rates, it is urgent to find out more effective therapies. Plakophilin-2 (PKP2) is a widespread desmosomal plaque protein. Recently, the important roles of PKP2 in the proliferation and migration of cancer cells and tumor progression has been shown. However, the expression and potential function of PKP2 in glioma was still unclear. In this study, we demonstrated that PKP2 protein expression level was increased in glioma tissues compared with normal brain tissues, and its level was significantly associated with the Ki-67 expression and WHO grade by Western blot analysis and immunohistochemistry...
January 26, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28116838/insular-primary-glioblastomas-with-idh-mutations-clinical-and-biological-specificities
#7
Nobuhiro Hata 秦暢宏, Ryusuke Hatae, Koji Yoshimoto, Hideki Murata, Daisuke Kuga, Yojiro Akagi, Yuhei Sangatsuda, Satoshi O Suzuki, Toru Iwaki, Masahiro Mizoguchi, Koji Iihara
Isocitrate dehydrogenase (IDH) mutation is a good prognostic marker for glioblastoma (GBM). Although it is infrequent in primary tumors, it is found in most lower-grade gliomas. Thus, it is unclear whether IDH mutation is a marker for a specific phenotype of apparently primary de novo GBMs (pGBMs), or a marker for secondary tumors (sGBMs). We addressed this issue by analyzing clinical, radiographic and molecular findings in our institutional case series. Our cases included 92 pGBMs, with five cases of IDH1 mutations at R132 and no IDH2 mutations...
January 24, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28093855/typical-and-atypical-appearance-of-early-onset-alzheimer-s-disease-a-clinical-neuroimaging-and-neuropathological-study-symposium-fundamentals-learned-from-diversity-among-typical-and-atypical-appearances
#8
Shinobu Kawakatsu 川勝 忍, Ryota Kobayashi, Hiroshi Hayashi
The International Working Group (IWG) has classified Alzheimer's disease (AD) as two different types, the typical form and the atypical form, but clinicopathological studies of atypical AD are limited. Because atypical AD cases usually present with early-onset dementia, we investigated 12 patients with early-onset AD, including two patients with typical AD and 10 patients with atypical AD. Of these patients, six had the posterior variant, three had the frontal variant and one had the logopenic variant mixed with semantic dementia...
January 17, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28070930/pituitary-adenoma-with-adipose-tissue-a-new-metaplastic-variant
#9
Chiara Caporalini, Anna Maria Buccoliero, Luigi Pansini, Selene Moscardi, Luca Novelli, Gianna Baroni, Lorenzo Bordi, Franco Ammannati, Gian Luigi Taddei
Pituitary adenomas are benign tumors representing approximately 15-20% of intracranial neoplasms. There have been few reports of metaplastic osseous transformation and about 60 cases of neuronal metaplasia in pituitary adenoma but adipose metaplasia has not been previously described in the English literature. Here we report a case of pituitary adenoma with metaplastic adipose tissue in a 58-year-old male patient. Histologically this case fulfilled the criteria of a non-functioning pituitary adenoma, and moreover a central area of adipose tissue, made by mature adipocytes, and many tumor cells, containing fat droplet were evident...
January 9, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28042664/well-formed-cerebellum-and-brainstem-like-structures-in-a-mature-ovarian-teratoma-neuropathological-observations
#10
Masayuki Shintaku 新宅雅幸, Toshiko Sakuma, Chiho Ohbayashi, Motoyoshi Maruo
In the surgical case of a mature cystic teratoma of the ovary that arose in a 16-year-old girl, a large amount of well-differentiated and highly organized cerebellar tissue was found. Three layers of the cerebellar cortex were well formed, and synaptophysin-positive "glomeruli" were found in the granule cell layer. Some Purkinje cells exhibited focal expansion and a dysmorphic appearance of the dendrites. Adjacent to the cerebellar tissue, a large space lined by the ependymal layer and a club-shaped CNS tissue mass resembling the brainstem were found, and structures reminiscent of the midbrain tectum and pontine nuclei were distinguished within this mass...
January 2, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28028861/creutzfeldt-jakob-disease
#11
REVIEW
Yasushi Iwasaki 岩崎 靖
This review will explore the clinical and pathological findings of the various forms of Creutzfeldt-Jakob disease (CJD). Clinical findings of CJD are characterized by rapidly progressive cognitive dysfunction, diffusion-weighted magnetic resonance imaging (DWI) hyperintensity, myoclonus, periodic sharp-wave complexes on electroencephalogram and akinetic mutism state. Neuropathologic findings of CJD are characterized by spongiform changes in gray matter, gliosis-particularly hypertrophic astrocytosis-neuropil rarefaction, neuron loss and prion protein (PrP) deposition...
December 28, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28004435/biopsy-proven-case-of-epstein-barr-virus-ebv-associated-vasculitis-of-the-central-nervous-system
#12
Kohei Kano 鹿野耕平, Takayuki Katayama, Shiori Takeguchi, Asuka Asanome, Kae Takahashi, Tsukasa Saito, Jun Sawada, Masato Saito, Ryogo Anei, Kyousuke Kamada, Naoyuki Miyokawa, Hiroshi Nishihara, Naoyuki Hasebe
A 75-year-old woman was admitted to our hospital with rapidly deteriorating consciousness disturbance. She had a 7-year history of rheumatoid arthritis (RA), which had been treated with methotrexate (MTX) and prednisolone. Brain T2-weighted MRI showed diffuse high-intensity lesions in the cerebral subcortical and deep white matter, bilateral basal ganglia and thalamus. A cerebrospinal fluid examination revealed elevated protein levels and positive Epstein-Barr virus (EBV) DNA. Human immunodeficiency virus was negative...
December 22, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27925304/dura-mater-graft-associated-creutzfeldt-jakob-disease-with-30-year-incubation-period
#13
Masahiro Shijo, Hiroyuki Honda, Sachiko Koyama, Koji Ishitsuka, Koichiro Maeda, Junya Kuroda, Mitsugu Tanii, Takanari Kitazono, Toru Iwaki
Over 60% of all patients with dura mater graft-associated Creutzfeldt-Jakob disease (dCJD) have been diagnosed in Japan. The incubation period has ranged from 1 to 30 years and the age at onset from 15 to 80 years. Here, we report a 77-year-old male Japanese autopsied dCJD case with the longest incubation period so far in Japan. He received a cadaveric dural graft at the right cranial convexity following a craniotomy for meningioma at the age of 46. At 30 years post-dural graft placement, disorientation was observed as an initial symptom of dCJD...
December 7, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27925301/atypical-case-of-perimesencephalic-subarachnoid-hemorrhage
#14
Konark Malhotra, Shino D Magaki, Maria Inmaculada Cobos Sillero, Harry V Vinters, Reza Jahan, Robert D Brown, David S Liebeskind
Perimesencephalic subarachnoid hemorrhage (PM-SAH) refers to intracranial hemorrhage located in the perimesencephalic cistern. The etiology remains mainly unclear, although venous leakage or rupture has been postulated. We report an interesting case of a 57-year-old healthy man who presented initially with PM-SAH with worsening of subcortical lesions on follow-up neuroimaging. Histopathological examination demonstrated cerebral amyloid angiopathy with perivascular inflammation.
December 7, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27925298/schwannoma-like-tumor-in-the-anterior-cranial-fossa-immunonegative-for-leu7-but-immunopositive-for-schwann-2e
#15
Christian Aïssè Bohoun, Yuzo Terakawa, Takeo Goto, Sayaka Tanaka, Yuko Kuwae, Masahiko Ohsawa, Hiroki Morisako, Kosuke Nakajo, Hidetoshi Sato, Kenji Ohata, Hideaki Yokoo
Schwannoma arising from the olfactory system, often called olfactory groove schwannoma (OGS), is rare, as the olfactory bulb and tract, belonging to the central nervous system, should lack Schwann cells. Another rare entity called olfactory ensheathing cell tumor (OECT) has been reported, which mimics clinical and radiological characteristics of OGS. Here, we report two rare cases of schwannoma-like tumor in the anterior cranial fossa that showed negative staining for Leu7, but positive staining for Schwann/2E, and discuss their origin...
December 7, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27546599/a-novel-mutation-in-the-pdz-like-motif-of-zasp-causes-distal-zasp-related-myofibrillar-myopathy
#16
Junjun Zheng, Shuyun Chen, Yunqing Chen, Min Zhu, Daojun Hong 洪道俊
Mutations in the LDB3 gene have been identified in patients with Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)-related myofibrillar myopathy (ZASP-MFM) characterized by late-onset distal myopathy with signs of cardiomyopathy and neuropathy. We describe an autosomal dominant inherited pedigree with ZASP-MFM that is in line with the typical phenotype of distal myopathy without cardiomyopathy and neuropathy, while mild asymmetrical muscle atrophy can be observed in some affected members...
February 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27506782/decrease-of-aquaporin-4-and-excitatory-amino-acid-transporter-2-indicate-astrocyte-dysfunction-for-pathogenesis-of-cortical-degeneration-in-hiv-associated-neurocognitive-disorders
#17
Hui Qin Xing, Yu Zhang, Kimiko Izumo, Shiho Arishima, Ryuji Kubota, Xiang Ye, Qiping Xu, Kazuyasu Mori, Shuji Izumo
Human immunodeficiency virus (HIV) encephalitis and degeneration of cerebral cortex are established histopathologies of HIV-associated neurocognitive disorders (HAND). We previously reported decreased excitatory amino acid transporter-2 (EAAT-2) and astrocytic apoptosis in cortical degeneration using SIVmac239 and simian-human immunodeficiency virus (SHIV)-infected macaques and human AIDS autopsy cases. In the present study, we added highly pathogenic SIVsm543-3-infected macaques. These animals showed similar degenerative changes in the frontal cortex...
February 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27500883/meningeal-ewing-sarcoma-peripheral-pnet-clinicopathological-immunohistochemical-and-fish-study-of-four-cases
#18
Changshu Ke 柯昌庶, Qiuhong Duan 段秋红, Hui Yang, Feng Zhu, Meng Yan, San-Peng Xu, Sheng Zhou, Feng Wan, Kai Shu, Ting Lei, Li-Ming Xia
Meningeal Ewing Sarcoma (ES)/peripheral primitive neuroectodermal tumor (pPNET) is a rare diagnostically challenging small round cell tumor in the CNS. This study investigates the clinical pathological features of four cases of this tumor from archives of 6 years in our hospital. Patients were within the median age of 21.5 years and male to female ratio was 1:1. The tumors distributed at the supra-tentorial location, posterior fossa and lumbar vertebral canal, usually presenting as the dura-sited nodule or having close connection with the meninges within the cranium or vertebral canal...
February 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27444855/familial-amyotrophic-lateral-sclerosis-with-an-i104f-mutation-in-the-sod1-gene-multisystem-degeneration-with-neurofilamentous-aggregates-and-sod1-inclusions
#19
Haishan Jiang, Hiroshi Shimizu, Atsushi Shiga, Masami Tanaka, Osamu Onodera, Akiyoshi Kakita, Hitoshi Takahashi
We previously reported familial amyotrophic lateral sclerosis (FALS) of 11 years duration in a 57-year-old woman, who received artificial ventilation for 5 years prior to death and exhibited widespread multisystem degeneration and neurofilamentous aggregates, so-called conglomerate inclusions (CIs). In the present study, we re-evaluated this autopsied patient (proband) with further immunohistochemical observation as well as mutational analysis of the superoxide dismutase 1 (SOD1) gene. A review of the clinical features of the proband's family revealed five affected members (including the proband) over two successive generations who showed marked variability in clinical presentation, such as the age at onset...
February 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27436355/an-autopsied-case-of-mm1%C3%A2-%C3%A2-mm2-cortical-with-thalamic-type-sporadic-creutzfeldt-jakob-disease-presenting-with-hyperintensities-on-diffusion-weighted-mri-before-clinical-onset
#20
Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Tetsuyuki Kitamoto, Mari Yoshida
A 78-year-old Japanese man presented with rapidly progressive dementia and gait disturbances. Eight months before the onset of clinical symptoms, diffusion-weighted magnetic resonance imaging (DWI) demonstrated hyperintensities in the right temporal, right parietal and left medial occipital cortices. Two weeks after symptom onset, DWI showed extensive hyperintensity in the bilateral cerebral cortex, with regions of higher brightness that existed prior to symptom onset still present. Four weeks after clinical onset, periodic sharp wave complexes were identified on an electroencephalogram...
February 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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