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Clinical Neuropathology

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https://read.qxmd.com/read/30738494/clinical-findings-and-autophagic-pathology-in-neutral-lipid-storage-disease-with-myopathy
#1
Daojun Hong, Junjun Zheng, Ling Xin, Yining Xiang, Xinghua Luan, Li Cao, Lu Cong, Pu Fang, Jun Zhang
Neutral lipid storage disease with myopathy (NLSDM) is a triglyceride metabolic disorder caused by defects of adipose triglyceride lipases (ATGL). The coexistence of lipid vacuoles and rimmed vacuoles in the myofibers is a characteristic pathological change in some NLSDM cases. However, it has not been explored whether autophagic abnormalities exist in the NLSDM myofibers with rimmed vacuole. Herein, we report that 5 patients with NLSDM initially presented with muscle weakness in the right arm related to long-term physical efforts, then developed muscle weakness of other limbs...
February 10, 2019: Clinical Neuropathology
https://read.qxmd.com/read/30738493/adult-onset-smaled2-due-to-a-novel-bicd2-mutation-presenting-with-asymmetrical-lower-limb-involvement
#2
Chenyi Wan, Yuyao Wang, Qian Zhou, Yanyan Yu, Daojun Hong, Min Zhu
Heterozygous variants in the bicaudal D homolog 2 gene ( BICD2 ) are associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). This disease is usually characterized by congenital or early-onset muscle weakness and atrophy of the lower extremities with benign or slow progression. We herein described an autosomal dominant inherited pedigree with SMALED2 in which the affected individuals presented with late adult-onset muscle weakness and wasting in the lower extremities...
February 10, 2019: Clinical Neuropathology
https://read.qxmd.com/read/30738492/osseous-metaplasia-of-the-pituitary-gland-with-leukemia
#3
Minqian Shen, Richard Prayson
No abstract text is available yet for this article.
February 10, 2019: Clinical Neuropathology
https://read.qxmd.com/read/30704554/teaching-case-2-2019-macrophagic-scavenging-of-a%C3%AE
#4
Ellen Gelpi, Sigrid Klotz, Alexandra Lang, Elisabeth Stögmann, Gabor G Kovacs
No abstract text is available yet for this article.
February 1, 2019: Clinical Neuropathology
https://read.qxmd.com/read/30686285/clinicopathologic-features-of-incidental-meningiomas-a-review-of-the-literature-and-the-university-of-rochester-autopsy-experience
#5
Mahlon D Johnson, Sohaib Abu-Farsakh
OBJECTIVE: Features of incidental meningiomas, found at autopsy, have not been extensively reported and may offer insight into their biology and management. DESIGN: Review of the literature on unsuspected incidental antemortem and postmortem meningiomas and those from autopsies, at the University of Rochester from 2005 to 2016. RESULTS: At autopsy, incidental meningiomas were usually found in 2 - 3% of cases. Incidental meningiomas found by neuroimaging were more commonly seen over the convexities, although our findings suggest that parasellar meningiomas are common...
January 28, 2019: Clinical Neuropathology
https://read.qxmd.com/read/30574863/blood-brain-barrier-dysfunction-in-a-boxer-with-chronic-traumatic-encephalopathy-and-schizophrenia
#6
Michael Farrell, Susan Aherne, Sean O'Riordan, Eoin O'Keeffe, Chris Greene, Matthew Campbell
Chronic traumatic encephalopathy (CTE) is a neurodegenerative condition characterized by the perivascular deposition of phosphorylated τ (p-τ) protein aggregates resulting from repetitive mild traumatic brain injury (rTBI). Advances in the field have revealed the significance of repetitive head trauma in the pathogenesis of CTE in contact sports as well as military veterans. In this study we provide evidence of blood-brain barrier (BBB) disruption in regions of intense perivascular p-τ deposition in a former professional boxer diagnosed with CTE and schizophrenia...
December 21, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30563612/primary-intracranial-rhabdomyosarcoma-in-an-nf1-patient
#7
Charles N de Leeuw, Richard A Prayson
No abstract text is available yet for this article.
December 19, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30563611/fetal-cerebral-malakoplakia-associated-with-recurrent-facial-erysipelas-of-the-mother
#8
Anna Kristine Myrmel Sæle, Knut Håkon Bakke, Paul Christoffer Lindemann, Rafael Alexander Leiva, Karin Collett, Hrvoje Miletic
No abstract text is available yet for this article.
December 19, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30526818/primary-intradiploic-epidermoid-cyst-a-case-report-with-literature-review
#9
Jun Ma, Guijun Jia, Wang Jia
Primary intradiploic epidermoid cyst of the central nervous system (CNS) is a rare disease. More than 200 cases have been reported so far. The lesion can affect every flat bone of the cranium. The pre-operative diagnosis is always misleading. We reported a 61-year-old female with giant primary intradiploic epidermoid cyst in the parietal bone. Surgical resection was performed. The patient recovered well with no complication nor neurologic dysfunction. A literature review of the disease will also be presented here...
December 11, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30526817/case-of-the-month-1-2019-cns-high-grade-neuroepithelial-tumor-with-bcor-alteration
#10
Christine Haberler, Lilla Reiniger, Hajnalka Rajnai, Ognian Kalev, Ellen Gelpi, Melanie Tamesberger, Torsten Pietsch
No abstract text is available yet for this article.
December 11, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30499772/atrx-protein-loss-and-deregulation-of-pi3k-akt-pathway-is-frequent-in-pilocytic-astrocytoma-with-anaplastic-features
#11
Adriana Olar, Diep Tran, Vidya P Mehta, Annekathrin Reinhardt, Jawad H Manekia, Maria Garnovskaya, Benjamin Ellezam, Rajyalakshmi Luthra, Erik P Sulman, Carrie A Mohila, Gerald A Campbell, Suzanne Z Powell, Gregory N Fuller, Kenneth D Aldape, Adekunle M Adesina
INTRODUCTION: Pilocytic astrocytoma (PA) with anaplastic features (PAAF) is a rare entity associated with decreased survival. It is characterized by hypercellularity, atypia, brisk mitotic activity, variable necrosis, and association with a classic PA component or anaplastic transformation in a recurrent tumor with a previously-documented classic PA. MATERIALS AND METHODS: We present 5 PAAF cases with clinical, radiological, pathological, and molecular correlation...
November 30, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30499771/solitary-fibrous-tumor-hemangiopericytoma-of-the-optic-canal
#12
Vikram Singh, Kirti Gupta, Apinder Preet Singh, Pravin Salunke
Solitary fibrous tumor/hemangiopericytoma seldom arises from the optic nerve sheath. Herein, we describe the clinical, radiological, and histological findings of a solitary fibrous tumor/hemangiopericytoma arising from the optic nerve sheath and occupying the optic canal. The diagnosis is challenging both clinically and histologically as it clinically simulates a commoner lesion, i.e., an optic nerve sheath meningioma, and histological features can be mistaken for a fibroblastic/transitional meningioma. Differentiating these lesions from meningioma is crucial both for therapeutic and prognostic reasons...
November 30, 2018: Clinical Neuropathology
https://read.qxmd.com/read/30563610/clinical-neuropathology-1-2019
#13
Johannes A Hainfellner
No abstract text is available yet for this article.
January 2019: Clinical Neuropathology
https://read.qxmd.com/read/30336803/neuropolypathology-as-a-result-of-severe-traumatic-brain-injury
#14
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...
January 2019: Clinical Neuropathology
https://read.qxmd.com/read/30415651/argyrophilic-grain-disease-presenting-as-behavioral-frontotemporal-dementia
#15
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
https://read.qxmd.com/read/30343679/clinical-neuropathology-image-6-2018-metastasis-of-breast-carcinoma-to-meningioma
#16
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
https://read.qxmd.com/read/30343678/advancing-brain-tumor-epidemiology-multi-level-integration-and-international-collaboration-the-2018-brain-tumor-epidemiology-consortium-meeting-report
#17
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
https://read.qxmd.com/read/30232955/synaptic-plexi-of-u-fibre-layer-beneath-focal-cortical-dysplasias-role-in-epileptic-networks
#18
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
https://read.qxmd.com/read/30178739/chondroblastoma-of-frontal-bone-a-tumor-in-an-unusual-location-in-a-young-child
#19
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
https://read.qxmd.com/read/30148448/ultrastructural-changes-in-microvessels-in-familial-hemiplegic-migraine-with-cacna1a-mutation
#20
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
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