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Neuropathology: Official Journal of the Japanese Society of Neuropathology

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https://www.readbyqxmd.com/read/28906054/neuropathological-comorbidity-associated-with-argyrophilic-grain-disease
#1
REVIEW
Osamu Yokota, Tomoko Miki, Chikako Ikeda, Shigeto Nagao, Shintaro Takenoshita, Hideki Ishizu, Takashi Haraguchi, Shigetoshi Kuroda, Seishi Terada, Norihito Yamada
Argyrophilic grain disease (AGD) is a common four-repeat tauopathy in elderly people. While dementia is a major clinical picture of AGD, recent studies support the possibility that AGD may be a pathological base in some patients with mild cognitive impairment, late-onset psychosis, bipolar disorder and depression. AGD often coexists with various other degenerative changes. The frequency of AGD in progressive supranuclear palsy (PSP) cases was reported to range from 18.8% to 80%. The frequency of AGD in corticobasal degeneration (CBD) cases tends to be higher than that in PSP cases, ranging from 41...
September 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28906030/pathological-and-immunoblot-analysis-of-phosphorylated-tdp-43-in-sporadic-amyotrophic-lateral-sclerosis-with-pallido-nigro-luysian-degeneration
#2
Akiko Uchino, Mieko Ogino, Junko Takahashi-Fujigasaki, Saori Oonuma, Naomi Kanazawa, Sabine Kajita, Masaaki Ichinoe, Masato Hasegawa, Kazutoshi Nishiyama, Shigeo Murayama
Transactivation response DNA-binding protein 43 kDa (TDP-43) is a key protein of sporadic amyotrophic lateral sclerosis (ALS), and phosphorylated form of TDP-43 (p-TDP-43) is a major pathological protein that accumulates in sporadic ALS. p-TDP-43 is found not only in primary motor neurons, but often propagates to non-motor systems as well. However, pallido-nigro-luysian (PNL) degeneration (PNLD) is rarely associated with ALS. We describe here a 68-year-old ALS patient presenting severe PNLD. He had difficulty walking due to poor movement of his right leg, and was diagnosed as having Parkinson's disease because of akinesia...
September 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28901666/clinicopathological-and-molecular-characteristics-of-pediatric-meningiomas
#3
Sudha Battu, Anupam Kumar, Pankaj Pathak, Suvendu Purkait, Linchi Dhawan, Mehar C Sharma, Ashish Suri, Manmohan Singh, Chitra Sarkar, Vaishali Suri
Molecular and clinical characteristics of pediatric meningiomas are poorly defined. Therefore, we analyzed clinical, morphological and molecular profiles of pediatric meningiomas. Forty pediatric meningiomas from January 2002 to June 2015 were studied. 1p36, 14q32 and 22q-deletion were assessed by fluorescent in situ hybridization and mutations of most relevant exons of AKT, SMO, KLF4, TRAF and pTERT using sequencing. Expression of GAB1, stathmin, progesterone receptor (PR), p53 along with MIB-1 LI was examined using immunohistochemistry...
September 13, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28880421/diffuse-midline-gliomas-with-histone-h3-k27m-mutation-a-rare-case-with-pnet-like-appearance-and-neuropil-like-islands
#4
Yue Gao, Yang-Yang Feng, Juan-Han Yu, Qing-Chang Li, Xue-Shan Qiu, En-Hua Wang
Diffuse midline glioma with histone H3-K27M mutation is a new tumor entity defined by the 2016 WHO Classification of Tumors of the Central Nervous System. A 51-year-old Chinese woman presented with neck pain for a month. Subsequent MRI revealed an intramedullary neoplasm extending from C5 to C7. Histologically, the cellular area of the tumor was composed of primitive, poorly differentiated, small cells with scant cytoplasm, nuclear molding, and brisk mitotic activity, exhibiting PNET-like appearance, while in the hypocellular area, oligodendroglioma-like cells were observed...
September 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28856748/propionibacterium-acnes-associated-neurosarcoidosis-a-case-report-with-review-of-the-literature
#5
Guang Yang, Yoshinobu Eishi, Anwar Raza, Heather Rojas, Adina Achiriloaie, Kenneth De Los Reyes, Ravi Raghavan
A 56-year-old woman with a 3-year history of hydrocephalus and ventriculo-peritoneal shunt placement, presented with worsening altered level of consciousness for 2 days. Imaging studies showed severe ventriculomegaly involving the lateral and third ventricles with multiple septated cysts noted in the lateral ventricles predominantly near the frontal horns. Histopathologic examination of the excised brain lesion revealed choroid plexus tissue and adjacent cerebral parenchyma with several non-caseating granulomas...
August 30, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28856744/frequency-of-myd88-and-cd79b-mutations-and-mgmt-methylation-in-primary-central-nervous-system-diffuse-large-b-cell-lymphoma
#6
Mei Zheng, Anamarija M Perry, Philip Bierman, Fausto Loberiza, Michel R Nasr, David Szwajcer, Marc R Del Bigio, Lynette M Smith, Weiwei Zhang, Timothy C Greiner
Primary CNS diffuse large B-cell lymphoma (PCNS-DLBCL) and systemic DLBCL harbor mutations in MYD88 and CD79B. DNA methyltransferase (MGMT) is methylated in some DLBCL. Our goal was to investigate the frequencies of these events, which have not been previously reported within the same series of patients with PCNS-DLBCL. Fifty-four cases of PCNS-DLBCL from two institutions were analyzed by Sanger sequencing for MYD88 and CD79B, and pyrosequencing for MGMT. MYD88 mutations were identified in 68.8% (35 of 51 cases), with L265P being the most frequent mutation...
August 30, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28841245/marked-accumulation-of-oligodendroglia-like-cells-in-temporal-lobe-epilepsy-with-amygdala-enlargement-and-hippocampal-sclerosis
#7
Daichi Sone, Masako Ikemura, Yuko Saito, Go Taniguchi, Naoto Kunii
Although an increasing number of cases of temporal lobe epilepsy (TLE) with ipsilateral amygdala enlargement (AE) have been reported, there are few pathological reports, and no clear consensus has been established. Oligodendroglia or oligodendroglia-like cells (OLCs) have recently attracted attention in epilepsy studies. Here, we report the clinical and pathological findings of a 40-year-old male TLE patient with AE and hippocampal sclerosis, in whom histopathological study demonstrated remarkable clustering of OLCs around the uncus...
August 25, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28840946/high-resolution-melting-and-immunohistochemical-analysis-efficiently-detects-mutually-exclusive-genetic-alterations-of-adamantinomatous-and-papillary-craniopharyngiomas
#8
Koji Yoshimoto, Ryusuke Hatae, Satoshi O Suzuki, Nobuhiro Hata, Daisuke Kuga, Yojiro Akagi, Takeo Amemiya, Yuhei Sangatsuda, Nobutaka Mukae, Masahiro Mizoguchi, Toru Iwaki, Koji Iihara
Craniopharyngioma consists of adamantinomatous and papillary subtypes. Recent genetic analysis has demonstrated that the two subtypes are different, not only in clinicopathological features, but also in molecular oncogenesis. Papillary craniopharyngioma (pCP) is characterized by a BRAF mutation, the V600E (Val 600 Glu) mutation. Adamantinomatous craniopharyngioma (aCP) can be distinguished by frequent β-catenin gene (CTNNB1) mutations. Although these genetic alterations can be a diagnostic molecular marker, the precise frequency of these mutations in clinical specimens remains unknown...
August 25, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28836300/cerebral-amyloid-angiopathy-initially-occurs-in-the-meningeal-vessels
#9
Shigeki Takeda, Kazunori Yamazaki, Teruo Miyakawa, Kiyoshi Onda
To clarify the frequency of CAA in the brain parenchyma and subarachnoid space (SAS), we counted sections of blood vessels showing positive staining for Aβ in the SAS, cerebral cortex (CC) and cerebral white matter (WM) using paraffin-embedded sections of the frontal, temporal and occipital lobes. The specimens had been taken for routine neuropathological examination from the brains of 105 Japanese patients (aged 40-95 years) selected from among 200 consecutive patients autopsied between 1989 and 2015 at our hospital...
August 23, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28833600/clinicopathologic-features-and-pathogenesis-of-melanocytic-colonization-in-atypical-meningioma
#10
Mitra Dehghan Harati, Andrew Yu, Shino D Magaki, Mari Perez-Rosendahl, Kyuseok Im, Young K Park, Marvin Bergsneider, William H Yong
Only two prior cases of benign dendritic melanocytes colonizing a meningioma have been reported. We add a third case, describe clinicopathologic features shared by the three, and elucidate the risk factors for this very rare phenomenon. A 29 year-old Hispanic woman presented with headache and hydrocephalus. MRI showed a lobulated enhancing pineal region mass measuring 41 mm in greatest dimension. Subtotal resection of the mass demonstrated an atypical meningioma, WHO grade II, and the patient subsequently underwent radiotherapy...
August 18, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#11
Eduardo López-Corella, Isabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Á Rodríguez-Weber, Sara Guillén-Lopez, Leticia Belmont-Martínez, David Agüero-Linares, Marcela Vela-Amieva
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...
August 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28812319/poorly-differentiated-chordoma-with-loss-of-smarcb1-ini1-expression-in-pediatric-patients-a-report-of-two-cases-and-review-of-the-literature
#12
Yoon Jin Cha, Chang-Ki Hong, Dong-Seok Kim, Seung-Koo Lee, Hyeon Jin Park, Se Hoon Kim
Identification of loss of SMARCB1/INI1 expression in poorly differentiated (PD) chordoma in pediatric patients suggests that PD chordoma is an entity molecularly distinct from conventional chordoma or atypical teratoid/rhabdoid tumor, which is also characterized by loss of SMARCB1/INI1 expression by inactivating mutation of the SMARCB1/INI gene. So far, around 20 cases of pediatric PD chordoma with loss of SMARCB1/INI1 expression have been reported. Here, we report two cases of pediatric PD chordoma with loss of SMARCB1/INI1 expression, which is very rare among the pediatric chordoma types...
August 15, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28812310/gliosarcoma-arising-from-oligodendroglioma-idh-mutant-and-1p-19q-codeleted
#13
Takayuki Yasuda, Masayuki Nitta, Takashi Komori, Tatsuya Kobayashi, Kenta Masui, Takashi Maruyama, Tatsuo Sawada, Yoshihiro Muragaki, Takakazu Kawamata
Herein, we present a rare case of gliosarcoma arising from oligodendroglioma, isocitrate dehydrogenase (IDH) mutant and 1p/19q codeleted. A 36-year-old man presented with a non-enhanced calcified abnormal lesion on the right frontal lobe. The patient underwent subtotal surgical resection, PAV chemotherapy (procarbazine, nimustine (ACNU) and vincristine), and fractionated radiotherapy with 50 Gy. The pathological diagnosis was oligodendroglioma, IDH mutant and 1p/19q codeleted, World Health Organization 2016 grade II...
August 15, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28782849/diffuse-glioma-rare-homozygous-idh-point-mutation-is-it-an-oncogenetic-mechanism
#14
Angad Singh, Mamta Gurav, Sandeep Dhanavade, Omshree Shetty, Sridhar Epari
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
August 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28748542/pediatric-intracerebral-histiocytic-sarcoma-with-rhabdoid-features-case-report-and-literature-review
#15
Young Hye Kim, Gie-Taek Yie, Na Rae Kim, In-Sang Jeon, Hyun Yee Cho, Jae Yeon Seok, Eung Yeop Kim, Kyu Chan Lee
A 16-year-old boy presented with marked weight loss, weakness of the left extremities and dizziness of 2 months duration and vomiting for 2 days. Brain MRI showed an approximately 6.5 × 5.3 cm-sized huge heterogeneous enhancing mass located in the corpus callosum, extending into the lateral ventricle. Open biopsy showed that the lesion consisted of lymphoplasmacytes and plump histiocytes with rhabdoid morphology, which were stained with S-100 protein, CD68 (KP1) and negative for CD1a. Histiocytic tumor was initially diagnosed...
July 27, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28731225/decreased-levels-of-pdi-and-p5-in-oligodendrocytes-in-alzheimer-s-disease
#16
Yasuyuki Honjo, Takashi Ayaki, Takami Tomiyama, Tomohisa Horibe, Hidefumi Ito, Hiroshi Mori, Ryosuke Takahashi, Koji Kawakami
Protein disulfide isomerase (PDI) is a chaperone protein located in the endoplasmic reticulum (ER). Nitric oxide-induced S-nitrosylation of PDI inhibits its enzymatic activity, leading to protein accumulation and activation of the unfolded protein response. Protein disulfide isomerase P5 (P5) is a member of the PDI family that mostly localizes to the ER lumen. Both S-nitrosylated PDI and S-nitrosylated P5 are found in Alzheimer's disease (AD) brain. Previously, we showed that expression of the ER stress marker, growth arrest, and DNA damage protein (GADD34) was significantly increased in neurons and oligodendrocytes in AD brain...
July 21, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28707717/an-autopsied-case-of-corticobasal-degeneration-presenting-with-frontotemporal-dementia-followed-by-myoclonus
#17
Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Mari Yoshida
A Japanese woman developed frontotemporal dementia (FTD)-like symptoms of abnormal behavior, such as stereotyped behavior and disinhibition. The patient developed these symptoms at the age of 59 years, although aphasia symptoms were not apparent at early disease stages. Progressive parkinsonism was dominant on the left side, and conspicuous myoclonus was recognized in the late disease stage. MRI indicated severe, right side-dominant frontotemporal lobe atrophy with white matter degeneration. Brainstem and cerebellar atrophy were also observed...
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28707715/myelinating-cocultures-of-rodent-stem-cell-line-derived-neurons-and-immortalized-schwann-cells
#18
Tomohiro Ishii, Emiko Kawakami, Kentaro Endo, Hidemi Misawa, Kazuhiko Watabe
Myelination is one of the most remarkable biological events in the neuron-glia interactions for the development of the mammalian nervous system. To elucidate molecular mechanisms of cell-to-cell interactions in myelin synthesis in vitro, establishment of the myelinating system in cocultures of continuous neuronal and glial cell lines are desirable. In the present study, we performed co-culture experiments using rat neural stem cell-derived neurons or mouse embryonic stem (ES) cell-derived motoneurons with immortalized rat IFRS1 Schwann cells to establish myelinating cultures between these cell lines...
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28707334/human-zika-and-west-nile-virus-neurological-infections
#19
LETTER
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28691164/pick-s-disease-with-neuronal-four-repeat-tau-accumulation-in-the-basal-ganglia-brain-stem-nuclei-and-cerebellum
#20
Chikako Ikeda, Osamu Yokota, Tomoko Miki, Shintaro Takenoshita, Hideki Ishizu, Yoko Mori, Kiyohiro Yamazaki, Yuki Ozaki, Shu-Ichi Ueno, Takeshi Ishihara, Masato Hasegawa, Seishi Terada, Norihito Yamada
It is very rare that cases of Pick's disease, a representative three-repeat (3R) tauopathy, also have significant four-repeat (4R) tau accumulation. Here, we report a Pick's disease case that clinically showed behavioral variant frontotemporal dementia without motor disturbance during the course, and pathologically had 3R tau-positive Pick bodies as well as numerous 4R tau-positive neuronal cytoplasmic inclusions (NCIs). Abundant 3R tau-positive 4R tau-negative spherical or horseshoe-shaped Pick bodies were found in the frontotemporal cortex, limbic region, striatum and pontine nucleus...
July 9, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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