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Clinical Neuropathology

María José Gil, Soledad Serrano, María Sagrario Manzano, María Luz Cuadrado, Elena Góméz, Alberto Rábano
Argyrophilic grain disease (AgD) is a frequent late-onset 4R tauopathy of old age characterized by the presence of profuse spindle-shaped argyrophilic grains (AGs). It is a neurodegenerative disorder that is clinically characterized by a slow progressive amnestic mild cognitive impairment similar to Alzheimer's disease. In rare instances, it is characterized as a behavioral-variant frontotemporal dementia (bv-FTD). In this study, we report a case with typical clinical and neuroimaging features of bv-FTD, who had autopsy findings consistent with a definitive diagnosis of AgD...
November 12, 2018: Clinical Neuropathology
Colin P Doherty, Eoin O'Keeffe, James Keaney, Brian Lawlor, Robert F Coen, Michael Farrell, Matthew Campbell
A history of brain trauma has long been acknowledged as increasing an individual's risk of developing dementia in later life. The underlying mechanisms that belie this pre-disposition are, however, very poorly understood. Here, we report a clinical-neuropathological correlation of a man who presented at the age of 66 with a progressive complex atypical dementia with early and prominent neurobehavioral symptoms. His neurological condition continued to decline up to his death at the age of 74. During the compilation of his clinical history, it was established that the subject had experienced a single severe traumatic brain injury (TBI) aged 12 years in 1954 resulting in loss of consciousness, hospitalization, and coma for a number of days after which he was deemed to have recovered...
October 19, 2018: Clinical Neuropathology
Yuki Naruke, Hiroshi Horie, Yuichiro Nagai, Ryo Ando
Filar lipomas are a subtype of spinal lipomas wherein adipose tissue accumulation is restricted to the filum terminale. Embryologically, filar lipomas are considered to occur because of the failure of secondary neurulation, although the precise mechanism is not yet completely understood. Involvement of ectopic mesodermal, ectodermal, and endodermal tissues in spinal lipomas has been occasionally reported, and the origin of these ectopic tissues has been supposed to be migration of pluripotent tissues, which exist during secondary neurulation...
October 12, 2018: 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
Sumit Das
No abstract text is available yet for this article.
September 4, 2018: Clinical Neuropathology
Sigrid Klotz, Christian Matula, Matthias Pones, Merima Herac, Anna Grisold, Johannes A Hainfellner, Gabor G Kovacs, Ellen Gelpi
No abstract text is available yet for this article.
November 2018: Clinical Neuropathology
Kimberly J Johnson, Helle Broholm, Michael E Scheurer, Ching C Lau, Johannes A Hainfellner, Joseph Wiemels, Judith Schwartzbaum
The Brain Tumor Epidemiology Consortium (BTEC) is an international consortium that aims to foster multicenter and inter-disciplinary collaborations that focus on research related to the etiology, outcomes, and prevention of brain tumors. The 19th annual BTEC meeting was held in Copenhagen, Denmark, on June 19 - 21, 2018. The meeting focused on forming international collaborations and integrating multiple data types for the next generation of studies in brain tumor epidemiology. The next BTEC meeting will be held in Southern California in June 2019...
November 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...
November 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...
November 2018: Clinical Neuropathology
Dorota Dziewulska, Biruta Kierdaszuk
AIMS: Familial hemiplegic migraine type 1 (FHM1) due to mutations in the CACNA1A 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...
November 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...
November 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
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