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Clinical Neuropathology

Boleslaw Lach, Suzanne Goodwin, Allison Edgecombe, Andrew Duncan, John Fernandes
We describe an unusual leukoencephalopathy in a female who developed global language and memory difficulties as well as diffuse FLAIR lesions in the cerebral white matter (WM) ~ 30 months after bariatric surgery. She had no detectable nutritional deficiency. She died suddenly due to cardiovascular disease. The cerebral WM revealed perivascular T-cell infiltrations and strong immunoreactivity for the amyloid precursor protein limited to axons, without signs of myelin or neuronal injury. Unexplained WM lesions have been reported in post-bariatric-surgery patients...
June 29, 2018: Clinical Neuropathology
Yuanyuan Lu, Rui Wu, Lingchao Meng, He Lv, Jing Liu, Yuehuan Zuo, Wei Zhang, Yun Yuan, Zhaoxia Wang
Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes. Here, we report on two Han Chinese patients with HADHB mutation-associated infantile axonal Charcot-Marie-Tooth disease (IACMT). Both patients were unrelated. Case 1 was a 19-year-old man, and case 2 was a 5-year-old boy. Both had delayed motor development and slowly-progressing distal muscle weakness with areflexia and foot deformities. The electrophysiology findings were compatible with axonal polyneuropathy in both patients...
June 29, 2018: Clinical Neuropathology
Richard A Armstrong
AIMS: To characterize the topography of white matter pathology in neuronal intermediate filament inclusion disease (NIFID), a rare subtype of frontotemporal lobar degeneration (FTLD) with "fused in sarcoma" (FUS)-immunoreactive inclusions. MATERIAL AND METHODS: Fiber tracts from frontal and temporal lobes of 10 cases of NIFID. METHOD: Spatial patterns of the vacuolation, glial cell nuclei, and glial inclusions (GI) were studied across cortical fiber tracts from each case...
June 29, 2018: Clinical Neuropathology
Arnault Tauziède-Espariat, Raphaël Saffroy, Mélanie Pagès, Johan Pallud, Laurence Legrand, Aurore Besnard, Joëlle Lacombe, Guillaume Lot, Alin Borha, Sanaa Tazi, Homa Adle-Biassette, Marc Polivka, Emmanuèle Lechapt, Pascale Varlet
Numerous molecular alterations have been described in supratentorial high-grade gliomas (1p19q co-deletion, <i>IDH1/2</i>, histone H3, <i>hTERT</i> promotor mutations, loss of ATRX) which have led to a new histomolecular classification of diffuse gliomas. We aimed at describing these alterations in a series of 19 adults with pure cerebellar high-grade gliomas. Systematic immunohistochemical analyses, including that of IDH1R132H, ATRX, p53, PTEN, EGFR, p16, FGFR3, BRAFV600E, mismatch repair proteins, H3K27me3, H3K36me3, and H3K27M; molecular analyses of <i>IDH1/2</i>, <i>hTERT</i>, <i>BRAF</i>, <i>H3F3A</i>, and <i>HIST1H3B</i> mutation hotspots; and <i>EGFR</i>, <i>PTEN</i> FISH were retrospectively performed in a multicentric study...
May 29, 2018: Clinical Neuropathology
Mireille Bitar, Shabbar F Danish, Marc K Rosenblum
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described variant of low-grade neuroepithelial tumors that exhibits infiltrative growth, histopathological variability with frequently prominent oligodendroglioma-like components, intense labeling for CD34, absence of 1P/19Q codeletion, a distinct DNA methylation signature and genetic alterations involving MAP kinase pathway constituents of either the B-Raf proto-oncogene BRAF or fibroblast growth factor receptors 2 or 3 (FGFR2 and FGFR3)...
April 27, 2018: Clinical Neuropathology
Hans H Goebel
No abstract text is available yet for this article.
April 27, 2018: Clinical Neuropathology
Michał Bieńkowski, Adelheid Wöhrer, Patrizia Moser, Melitta Kitzwögerer, Gerda Ricken, Thomas Ströbel, Johannes A Hainfellner
Typing of diffuse gliomas according to the WHO 2016 Classification of Tumors of the Central Nervous System is based on the integration of histology with molecular biomarkers. However, the choice of appropriate methods for molecular analysis and criteria for interpretation of test results is left to each diagnostic laboratory. In the present study, we tested the applicability of combined immunohistochemistry, direct sequencing, and multiplex ligation-dependent probe amplification (MLPA) for diagnostic assessment of IDH1/2 mutation status, chromosome 1p/19q status, and TERT promoter mutations...
July 2018: Clinical Neuropathology
Massimiliano Filosto, Anna Galvagni, Gigliola Fagiolari, Filomena Caria, Stefano Cotti Piccinelli, Mattia Marchesi, Serena Gallo Cassarino, Carla Baronchelli, Maurizio Moggio, Alessandro Padovani
No abstract text is available yet for this article.
July 2018: Clinical Neuropathology
Miren Aizpurua, Christopher Chandler, Josef Jarosz, Onadim Zerrin, Khin Thway, Cyril Fisher, Andrew King
No abstract text is available yet for this article.
May 2018: Clinical Neuropathology
Hugh Kearney, Alan Beausang
No abstract text is available yet for this article.
May 2018: Clinical Neuropathology
Nila Volpi, Federica Ginanneschi, Alfonso Cerase, Salvatore Francesco Carbone, Margherita Aglianò, Paola Lorenzoni, Matteo Bellini, Sabina Bartalini, Giovanni Di Pietro, Alessandro Rossi
No abstract text is available yet for this article.
May 2018: Clinical Neuropathology
Hugh Kearney, Jane Cryan, Alan Beausang, Seamus Looby, Francesca M Brett
The aim of this study is to identify, in our center, all cases of foreign-body reactions to hemostatic agents or other prostheses resulting in a radiological suspicion of tumor recurrence. We interrogated our internal database to identify all such cases and systematically evaluated the MRI brain scans of patients: (i) at the time of initial tumor diagnosis, (ii) postoperatively, (iii) and at the time of suspected tumor recurrence. In addition, we reviewed each patient's operative notes and reviewed the histology of all cases following a second surgical intervention...
May 2018: Clinical Neuropathology
Yoon Jin Cha, Junjeong Choi, Se Hoon Kim
AIM: To evaluate the overlapping and distinguishing cytologic features of primary central nervous system lymphoma (PCNSL), diffuse large B-cell lymphoma, and glioblastoma (GM) in frozen sections and squash smear slides. MATERIALS AND METHODS: Intraoperative frozen sections and squash smear slides from PCNSL (N = 63) and GM (N = 122) patients diagnosed from 2005 to 2015 were retrieved from pathology records. Overlapping and distinguishing histologic features were examined and statistically analyzed...
May 2018: Clinical Neuropathology
Diogo Fitas, Ana Monteiro, Fernando Silveira, Lígia Castro, Stirling Carpenter, Goreti Nadais
Focal myositis is a very rare form of inflammatory myopathy, with unknown etiology. We describe a 44-year-old previously healthy man who noticed a painless swelling on his left forearm, following trauma over the left cubital fossa. The swelling grew progressively over 2 years. He had otherwise no weakness complaints. Physical and neurological examinations were otherwise normal. Creatine kinase and aldolase levels were increased (1,009 U/L and 11.9 U/L, respectively); autoimmunity panel was negative. MRI showed diffuse edema and gadolinium enhancement of muscles innervated by the median nerve...
April 9, 2018: Clinical Neuropathology
Beth Frazer, Hugh Kearney, Jane Cryan, Alan Beausang, Francesca Brett, Michael A Farrell, Patrick G Buckley
The presence of oligodendroglioma-like areas in pilocytic astrocytoma may give rise to pathologic diagnostic uncertainty. This study aims to determine if the oligodendroglioma-like areas present in some pilocytic astrocytomas (PA) possess the signature 1p/19q codeletion that is characteristic of classical oligodendroglioma. Array comparative genomic hybridization was carried out on 12 PA samples, from which oligodendroglioma-like areas were microdissected and used as the template DNA source. 1p/19q codeletions were not found in any of the oligodendroglioma areas in PAs...
March 29, 2018: Clinical Neuropathology
Jacqueline Mikol, Danielle Seilhean
No abstract text is available yet for this article.
March 26, 2018: Clinical Neuropathology
Julia Lang, Thomas Czech, Irene Slavc, Dominik Reisinger, Sophie Bartsch, Johannes A Hainfellner, Christine Haberler, Ellen Gelpi
No abstract text is available yet for this article.
March 2018: Clinical Neuropathology
Bette K Kleinschmidt-DeMasters, Jean M Mulcahy Levy
BACKGROUND: H3 K27M mutation was originally described in pediatric diffuse intrinsic pontine gliomas (DIPGs), but has been recently recognized to occur also in adult midline diffuse gliomas, as well as midline tumors with other morphologies, including gangliogliomas (GGs), anaplastic GGs, pilocytic astrocytomas (PAs), and posterior fossa ependymomas. In a few patients with H3 K27M;mutant tumors with these alternate morphologies, longer survival has been reported, making grading difficult for the neuropathologist...
March 2018: Clinical Neuropathology
Hugh Kearney, Jane B Cryan, Seamus Looby, Francesca M Brett, Michael A Farrell, Patrick G Buckley
Intracranial collision tumors are composed of two histologically distinct but merging components, and are rare. Their genetic profile has rarely been described. Comparative genome hybridization of a combined meningioma and oligodendroglioma demonstrated deletion of chromosome 22q and of 19q in both tumors. Somatic deletion of chromosome 22q and 19q is associated with development of an intracranial collision tumor.
March 2018: Clinical Neuropathology
Masayuki Shintaku, Daita Kaneda, Kiyomitsu Oyanagi
The patient was an 81-year-old woman diagnosed with atypical motor neuron disease who died after a long clinical course (7.5 years without mechanical assistance of ventilation) characterized by lower motor neuron signs and symptoms. Upper motor neuron signs and cognitive impairment were not apparent. Autopsy demonstrated severe neuronal loss in the anterior horn of the spinal cord, and some of the remaining neurons showed enlargement of Nissl substance and apparent thickening of the nuclear envelopes. No Bunina bodies, skein-like inclusions, or structures immunoreactive for phosphorylated transactivation response DNA-binding protein 43 were found...
March 2018: Clinical Neuropathology
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