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Neuropathology: Official Journal of the Japanese Society of Neuropathology

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https://www.readbyqxmd.com/read/30011089/late-onset-hereditary-sensory-and-autonomic-neuropathy-expands-the-phenotypic-spectrum-of-mfn2-related-diseases
#1
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
#2
Michael A Paolini, Mai L 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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/29939429/co-occurrence-of-astrocytoma-and-astroblastoma-case-report-and-literature-review
#6
Goksel Sali, Robert G Briggs, Andrew K Conner, Ali H Palejwala, Kar-Ming Fung, James D Battiste, Michael E Sughrue
A 41-year-old man presented to us with left arm and leg weakness and mild word finding difficulties. His preoperative magnetic resonance imaging (MRI) demonstrated abnormal T1 and T2 signal changes in the right temporal lobe and basal ganglia, indicative of possible glioma. An awake craniotomy for right temporal lobectomy was performed and the tumor was resected. Full pathologic workup later revealed the patient had two distinct tumors occurring simultaneously, anaplastic astrocytoma and astroblastoma. We review the literature regarding the treatment of anaplastic astrocytoma and astroblastoma and discuss their co-occurrence...
June 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29938835/colocalization-of-bunina-bodies-and-tdp-43-inclusions-in-a-case-of-sporadic-amyotrophic-lateral-sclerosis-with-lewy-body-like-hyaline-inclusions
#7
Yasuo Miki, Fumiaki Mori, Yusuke Seino, Kunikazu Tanji, Tadashi Yoshizawa, Hiroshi Kijima, Mikio Shoji, Koichi Wakabayashi
Sporadic amyotrophic lateral sclerosis (sALS) is characterized pathologically by loss of upper and lower motor neurons with occurrence of transactivation response DNA-binding protein 43 kDa (TDP-43)-immunoreactive skein-like and round hyaline inclusions. Lewy body-like hyaline inclusions (LBHIs) are also found in a small proportion of sALS cases as well as in individuals with familial ALS with mutations in the Cu/Zu superoxide dismutase (SOD1) gene. LBHIs in sALS are immunopositive for TDP-43, but not for SOD1...
June 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29876986/fulminant-leptomeningeal-carcinomatosis-from-a-malignant-melanoma-arising-in-a-cerebellopontine-epidermoid-cyst-a-rare-case-with-diagnostic-pointers
#8
Mohammad Kaif, Azfar Neyaz, Saumya Shukla, Nuzhat Husain
A malignant component in an epidermoid cyst is rare. We report an exceptionally rare case of a malignant melanoma arising in an epidermoid cyst located in the cerebellopontine (CP) angle. A 26-year-old woman presented with headache, vomiting, ataxia and difficulty in swallowing over the previous 3 months. The radiological finding suggested an epidermoid cyst and the lesion was excised. The histopathology confirmed a CP angle epidermoid cyst. Within 1 month of discharge, she developed hydrocephalus for which a ventriculo-peritoneal shunt was performed...
June 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29876981/intracranial-epidermoid-cyst-with-proliferative-folliculosebaceous-epithelium-report-of-a-rare-case-and-discussion-on-pathogenesis
#9
Tomu Okada, Kazuhiko Fujitsu, Teruo Ichikawa, Kousuke Miyahara, Shin Tanino, Yasuhiro Uriu, Synsuke Hataoka, Yuusuke Tanaka, Kouji Suzuki, Hitosi Niino, Saburou Yagishita, Ikuma Kato
Intracranial epidermoid cysts are rarely known to increase in size over a brief period. While malignant transformations of epidermoid cyst have been previously described, no reports to date have described rapid proliferation accompanied by mature hair follicles and sebaceous glands without malignant transformations. The present case involved a 71-year-old man who visited a local physician with disturbance of equilibrium. A mass lesion was detected at the left cerebellopontine angle and was subsequently removed...
June 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29876971/immunohistochemical-analysis-of-intrasulcal-hematoma-due-to-cerebral-amyloid-angiopathy-in-a-brain-dead-patient
#10
Shigeki Takeda, Kiyoshi Onda, Yuichi Yoshida
Neuropathological examinations of the brain in cases of brain death are usually insufficient because of autolysis. We examined a case of sporadic-type cerebral amyloid angiopathy-related hemorrhage (sCAA-H) in a 74-year-old Japanese woman who had been clinically established as brain dead 7 days before cardiac arrest. The brain was macerated, and a huge hematoma was evident in the right parieto-occipital region. Ordinary neuropathological examination was unable to clarify where the hematoma was located in the brain parenchyma or the subarachnoid space (SAS)...
June 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29869356/anaplastic-ganglioglioma-with-epithelioid-cell-components
#11
Chiaki Murakami, Tatsuya Yamazaki, Ryosuke Shintoku, Masanori Aihara, Yuhei Yoshimoto, Nozomi Matsumura, Sumihito Nobusawa, Hayato Ikota, Junko Hirato, Hideaki Yokoo
A 40-year-old man was admitted to our hospital because of disorientation and mild left-sided weakness. Radiological examination revealed a solid and cystic tumor in the right temporal lobe, and total resection was performed. Histologically, the tumor was composed mainly of low-grade gangiloglioma and had some high-grade glial components with focal necrosis and microvascular proliferations. In the high-grade component, there were epithelioid cells with round cytoplasm and eccentric nuclei. The high-grade area with epithelioid cells was intermingled within the low-grade area, which suggests that epithelioid cells were an anaplastic transformation of ganglioglioma...
June 4, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29851180/an-elderly-case-of-malignant-small-cell-glioma-with-hemorrhage-coexistent-with-a-calcified-pilocytic-astrocytoma-component-in-the-cerebellar-hemisphere
#12
Yuhei Sangatsuda, Nobuhiro Hata, Satoshi O Suzuki, Yojiro Akagi, Ryusuke Hatae, Daisuke Kuga, Koji Yoshimoto, Seiya Momosaki, Toru Iwaki, Koji Iihara
Pilocytic astrocytoma is a less aggressive form of glial tumor that commonly occurs in the pediatric population, and its malignant transformation is extremely rare. Here, we report an elderly case of malignant small cell glioma with hemorrhage coexistent with a calcified pilocytic astrocytoma component. An 80-year-old male was found to have a right cerebellar non-enhanced tumor with hematoma adjoining a calcified nodule. The lesion was surgically removed, and a histological examination verified that the tumor was a malignant small cell glioma with hemorrhagic change and the calcified nodule showed features of pilocytic astrocytoma...
May 31, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29799141/a-novel-mutation-in-the-dysf-gene-in-a-patient-with-a-presumed-inflammatory-myopathy
#13
Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang
Dysferlinopathy, a progressive muscular dystrophy, results from mutations in the Dysferlin gene (DYSF, MIM*603009). Traditional diagnosis relies on the reduction or absence of dysferlin. However, altered dysferlin has been observed in other myopathies, leading to a precise diagnosis through molecular genetics. In this study, we report a patient who was previously misdiagnosed as inflammatory myopathy based on routine clinicopathological examinations alone. However, muscle biopsy specimens were analyzed further by immunohistochemistry of muscular dystrophy-related proteins, and gene-targeted next generation sequencing (NGS) was used to correctly identify muscular dystrophy...
May 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29797751/histopathologic-features-of-an-autopsied-patient-with-cerebral-small-vessel-disease-and-a-heterozygous-htra1-mutation
#14
Junko Ito, Hiroaki Nozaki, Yasuko Toyoshima, Takashi Abe, Aki Sato, Hideki Hashidate, Shuichi Igarashi, Osamu Onodera, Hitoshi Takahashi, Akiyoshi Kakita
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary cerebral small vessel disease (CSVD) caused by homozygous or compound heterozygous mutations of the high temperature requirement A serine peptidase 1 gene (HTRA1). Affected patients suffer from cognitive impairment, recurrent strokes, lumbago and alopecia. Recently, clinical studies have indicated that some patients with heterozygous mutations in HTRA1 may also suffer CSVD. Here, we report the histopathologic features of an autopsied 55-year-old male patient who had shown cognitive impairment and multiple cerebral infarcts, and was found to have a heterozygous missense mutation (p...
May 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29781194/paraneoplastic-autoimmune-encephalitis-associated-with-pleomorphic-lung-carcinoma-an-autopsy-case-report
#15
Takashi Ando, Yoji Goto, Kazuo Mano, Fumio Nomura, Masako Kurashige, Masafumi Ito, Maya Mimuro, Yasushi Iwasaki, Masahisa Katsuno, Mari Yoshida
A 64-year-old man was admitted with acute onset disturbed consciousness. Cerebrospinal fluid analysis revealed pleocytosis and elevated protein, with negative cultures and PCR. Serum antibodies for autoimmune encephalitis were also negative. Brain magnetic resonance imaging (MRI) was unremarkable, but whole-body CT scan showed a tumor in the left lower lung lobe. Bronchial brush cytology demonstrated clusters of malignant cells, and 18 F-fluorodeoxyglucose positron emission tomography showed multiple lesions and increased uptake in the lung tumor...
May 20, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29781154/neuroglial-ectopia-of-the-vestibular-nerve-masquerading-as-a-vestibular-schwannoma-a-case-report
#16
John P Sheppard, Carlito Lagman, Thien Nguyen, Négar Khanlou, Quinton Gopen, Isaac Yang
Neuroglial ectopia is a rare entity of undetermined clinical significance. Here, we report a unique case of neuroglial ectopia of the vestibular nerve. A 27-year-old pharmacy student with a previous radiological diagnosis of vestibular schwannoma presented to our clinic for surgical evaluation. Magnetic resonance imaging (MRI) of the brain revealed a 17-mm T1 hypo- to isointense, T2 iso- to hyperintense, poorly enhancing left cerebellopontine angle mass extending into the left internal auditory canal compatible by imaging with a vestibular schwannoma...
May 20, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29748975/lysosomes-autophagosomes-and-alzheimer-pathology-in-dementia-with-lewy-body-disease
#17
Rowan Gurney, Yvonne S Davidson, Andrew C Robinson, Anna Richardson, Matthew Jones, Julie S Snowden, David M A Mann
A failure of protein degradation may underpin Lewy body disease (LBD) where α-synuclein is assimilated into the pathognomic Lewy bodies and Lewy neurites. We investigated histological alterations in lysosomes and autophagosomes in the substantia nigra (SN) and cingulate gyrus (CG) in 34 patients with LBD employing antibodies against phosphorylated α-synuclein and lysosomal (lysosomal associated membrane proteins 1 and 2 (LAMP-1 and LAMP-2), cathepsin D (CTSD)) and autophagosomal (microtubule-associated protein light chain 3α (LC3A)) proteins...
May 10, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29718563/first-pathological-report-of-a-de-novo-cd5-positive-diffuse-large-b-cell-lymphoma-patient-presenting-with-guillain-barr%C3%A3-syndrome-like-neuropathy-due-to-neurolymphomatosis
#18
Mikiko Kobayashi, Yasuhiro Sakai, Yuta Kariya, Hitoshi Sakai, Akiyo Hineno, Kiyomitsu Oyanagi, Hiroyuki Kanno
Peripheral neuropathy occurs in approximately 5% of the patients with lymphoma. Two major causes of peripheral neuropathy associated with lymphoma are neurolymphomatosis and paraneoplastic neuropathy such as demyelinating neuropathy. The differential diagnosis between neurolymphomatosis and demyelinating neuropathy is difficult, because electrophysiological findings suggestive of demyelination are frequently observed even in patients with neurolymphomatosis. Here, we report a patient with de novo CD5-positive diffuse large B-cell lymphoma (DLBCL) who presented with Guillain-Barré syndrome (GBS)-like neuropathy...
May 2, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29603414/glt-1-mediates-exercise-induced-fatigue-through-modulation-of-glutamate-and-lactate-in-rats
#19
Dongmei Wang, Xingtong Wang
Glutamate has been implicated in exercise-induced fatigue, but the underlying mechanism is unknown. This study aimed to determine whether glutamate transporter-1 (GLT-1) has a key role in the regulation of exercise-induced fatigue. The expressions of GLT-1 and glial fibrillary acidic protein (GFAP) in the supplementary motor area of rats exposed to exhaustion were analyzed by immunohistochemistry. The expression of GLT-1 was further confirmed by Western blotting. The effects of GLT-1 on extracellular levels of glutamate and lactate and on exercise endurance were studied by microdialysis...
June 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29603402/expression-of-crym-in-different-rat-organs-during-development-and-its-decreased-expression-in-degenerating-pyramidal-tracts-in-amyotrophic-lateral-sclerosis
#20
Reiji Hommyo, Satoshi O Suzuki, Nona Abolhassani, Hideomi Hamasaki, Masahiro Shijo, Norihisa Maeda, Hiroyuki Honda, Yusaku Nakabeppu, Toru Iwaki
The protein μ-crystallin (CRYM) is a novel component of the marsupial lens that has two functions: it is a key regulator of thyroid hormone transportation and a reductase of sulfur-containing cyclic ketimines. In this study, we examined changes of the expression pattern of CRYM in different rat organs during development using immunohistochemistry and immunoblotting. As CRYM is reportedly expressed in the corticospinal tract, we also investigated CRYM expression in human cases of amyotrophic lateral sclerosis (ALS) using immunohistochemistry...
June 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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