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Clinical Neuropathology

Ishita Pant, Sujata Chaturvedi, Avneesh Kumar Singh, Gurbachan Singh, Sadhna Tiwari
Intracranial aspergillosis is rare in immunocompetent patients. Its presentation is subtle, often without any diagnostic characteristics, and is frequently mistaken for tuberculous meningitis, pyogenic abscess, or a space-occupying lesion. The authors report a case of diffuse intracranial aspergillosis, in an immunocompetent 34-year-old male, that mimicked a meningioma on preoperative imaging. The origin, clinical course, radiological features, histopathological findings, and surgical treatment are discussed based on review of literature...
September 20, 2018: Clinical Neuropathology
Sumit Das, Wael Alshaya, Carolyn O'Hara, Frank van Landeghem, Keith Aronyk
No abstract text is available yet for this article.
September 20, 2018: Clinical Neuropathology
Harvey B Sarnat, Walter Hader, Laura Flores-Sarnat, Luis Bello-Espinosa
AIMS: The purpose is to demonstrate heterotopic neurones and their synaptic plexi within the U-fibre layer beneath focal cortical dysplasias (FCD). MATERIALS AND METHODS: This prospective qualitative neuropathological study included 23 patients, ages from 3 months to 17 years: resections at epileptogenic foci in 10 FCD Ia; 6 FCD IIa,b; 2 FCD IIIa,d; 3 HME; 2 TSC; 8 controls. TECHNIQUES: immunoreactivities for synaptophysin, NeuN, MAP2, SMI32, calretinin, GFAP, vimentin, α-B-crystallin...
September 20, 2018: Clinical Neuropathology
Sumit Das
No abstract text is available yet for this article.
September 4, 2018: Clinical Neuropathology
Anusha S Bhatt, D Nagendra Babu, Sumitra Sivakoti, Ramesh Teegala, Anita Mahadevan
Chondroblastomas are benign tumors of the osteoarticular system, involving long bones of skeletally immature individuals. Chondroblastomas of skull and facial bones are rare, with a predilection for temporal bone. We report the second case of chondroblastoma of frontal bone in world literature in an 8-year-old boy who presented with a painless swelling on the left side of the forehead increasing in size over 1 year. Plain radiography of the skull revealed a circular punched-out lesion in the left frontal precoronal area...
September 4, 2018: Clinical Neuropathology
Dorota Dziewulska, Biruta Kierdaszuk
AIMS: Familial hemiplegic migraine type 1 (FHM1) due to mutations in the <i>CACNA1A</i> gene is known as functional vascular disorder with cerebellar atrophy. We describe a case of a FHM1 family in which pathological changes occurred in both brain neuroimaging and skin and muscle biopsy. MATERIALS AND METHODS: In 5 of 18 affected family members, brain MRI scans revealed hyperintense changes in the cerebral white matter. In 2 of these 5 patients, skin and muscle biopsies were performed at the interictal period of the disease and examined under light and transmission electron microscopy...
August 27, 2018: Clinical Neuropathology
Maryam Abdollahi, MingYang Meah Gao, David G Munoz
Dyskeratosis congenita (DKC) is a rare, inherited disorder classically known by the triad of nail dystrophy, mucosal leukoplakia, and lacy reticulated skin hyperpigmentation. Bone marrow failure is a prominent feature and accounts for most deaths in these patients. Genetic mutations resulting in shortened telomeres have been shown to cause DKC, which is the basis for categorizing it as a "premature aging syndrome". Different modes of inheritance have been identified with X-linked recessive as the most common...
August 14, 2018: Clinical Neuropathology
Julia Lang, Ariane Biebl, Andreas Gruber, Beate Maier-Hiebl, Johannes A Hainfellner, Romana Höftberger, Ellen Gelpi
No abstract text is available yet for this article.
September 2018: Clinical Neuropathology
Aurelio Hernandez-Lain, Amaya Hilario, Juan Manuel Sepulveda, Diana Cantero, Ana Ramos, Angel Perez-Nuñez
The radiological diagnosis of glioma progression is still challenging. A 33-year-old woman diagnosed with a frontal tumor underwent awake craniotomy with total tumor resection. The diagnosis was IDH-mutated diffuse astrocytoma, WHO grade II. The patient did not receive additional radiotherapy or chemotherapy. Periodic MRI scans showed a T2/FLAIR nodular enlargement which appeared de novo and grew slowly and gradually until 4 years post surgery. The patient underwent a second craniotomy to completely resect the T2/FLAIR hyperintensity...
September 2018: Clinical Neuropathology
Eric M Thompson, Kyle Halvorson, Roger McLendon
INTRODUCTION: Edema is a significant cause of neuromorbidity in children and adults with brain tumors. Agents used to control this effect, such as corticosteroids, have their own associated morbidities. Sulfonylurea receptor 1 (SUR1) is a transmembrane protein that regulates the activity of ion channels in neurons, glia, and endothelial cells. SUR1 expression is upregulated in neuroinflammatory conditions. Inhibition of SUR1 with glyburide decreases edema and neuroinflammation by countering cytotoxic edema and apoptosis in rodent models of subarachnoid hemorrhage, stroke, trauma, and cerebral metastases...
September 2018: 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...
September 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...
September 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...
September 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
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)...
July 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...
July 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...
July 2018: Clinical Neuropathology
Jacqueline Mikol, Danielle Seilhean
No abstract text is available yet for this article.
July 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
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