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https://www.readbyqxmd.com/read/28210710/microangiopathy-in-primary-familial-brain-calcification-evidence-from-skin-biopsies
#1
Gaël Nicolas, Florent Marguet, Annie Laquerrière, João Ricardo Mendes de Oliveira, Didier Hannequin
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28196941/histopathological-differences-between-the-anterior-and-posterior-brain-arteries-as-a-function-of-aging
#2
William Roth, Susan Morgello, James Goldman, Jay P Mohr, Mitchell S V Elkind, Randolph S Marshall, Jose Gutierrez
BACKGROUND AND PURPOSE: We tested the hypothesis that posterior brain arteries differ pathologically from anterior brain arteries and that this difference varies with age. METHODS: Brain large arteries from 194 autopsied individuals (mean age 56±17 years, 63% men, 25% nonwhite, 17% with brain infarcts) were analyzed to obtain the areas of arterial layers and lumen as well as the relative content of elastin, collagen, and amyloid. Visual rating was used to determine the prevalence of atheroma, calcification, vasa vasorum, pattern of intima thickening, and internal elastic lamina gaps...
February 14, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28192888/computed-tomography-morphologic-features-of-pulmonary-adenocarcinoma-with-brain-bone-metastasis
#3
Ki-Eun Hwang, Su-Jin Oh, Chul Park, Se-Jeong Jeon, Jeong-Mi Lee, Byong-Ki Cha, Kwon-Ha Yoon, Eun-Taik Jeong, Hak-Ryul Kim
Background/Aims: Brain and bone metastases are common in patients with lung cancer. The development of metastasis is associated with poor survival in lung cancer patients. Although tumor morphologic features on radiographs are routinely assessed for differentiation between benign and malignant lung nodules, they are not used to predict metastasis. We assessed morphologic features of pulmonary adenocarcinomas with brain/bone metastasis on computed tomography (CT) to identify related factors for metastasis...
February 15, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28177126/identification-of-novel-snord118-mutations-in-seven-patients-with-leukoencephalopathy-with-brain-calcifications-and-cysts
#4
Kazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-Ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto
Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered the same clinical entity that was termed cerebroretinal microangiopathy with calcifications and cysts, but evidence now suggests that they are genetically distinct...
February 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28162874/deconstructing-fahr-s-disease-syndrome-of-brain-calcification-in-the-era-of-new-genes
#5
REVIEW
Amit Batla, Xin You Tai, Lucia Schottlaender, Robert Erro, Bettina Balint, Kailash P Bhatia
INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined...
December 27, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28132920/clinical-features-radiological-findings-and-surgical-outcomes-of-65-intracranial-psammomatous-meningiomas
#6
Zhiqin Lin, Meng Zhao, Xiaohui Ren, Junmei Wang, Zongze Li, Xiaolin Chen, Yongzhi Wang, Xiangrong Li, Chengjun Wang, Zhongli Jiang
OBJECTIVE: Intracranial psammomatous meningiomas (PMs) are rarely reported due to their extremely low incidence. Knowledge about intracranial PMs is therefore poor. This study aimed to analyze the incidence, clinical features, radiological findings, and surgical outcomes of intracranial PMs. METHODS: Approximately 5,651 intracranial meningiomas were surgically treated at Beijing Tiantan Hospital between November 2011 and December 2015. The authors identified all cases in which patients underwent resection of an intracranial tumor that was found to be pathological examination demonstrated to be PM and analyzed the data from these cases...
January 26, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28109103/-value-of-diffusion-weighted-imaging-1-h-magnetic-resonance-spectroscopy-and-3d-whole-brain-arterial-spin-labeling-in-the-diagnosis-of-medulloblastoma
#7
Dong-Liang Cheng, Wen-Sheng Wang, Yi-Xin Hu, Meng-Lin Chen, Ge Wen, Li-Na Cheng, Jing Wu, Liu-Qing Yan
OBJECTIVE: To explore the value of diffusion-weighted imaging (DWI), (1)H-magnetic resonance spectroscopy (1H-MRS) and 3D whole-brain arterial spin labeling (3D ASL) in the diagnosis of medulloblastoma in the posterior cranial fossa. METHODS: The magnetic resonance imaging (MRI) findings of 16 patients with pathologically confirmed medulloblastoma in the posterior cranial fossa were analyzed retrospectively. All the patients were examined with plane and enhanced brain MRI scans; 5 patients also underwent examinations with DWI, 12 with MRS, and 5 with 3D ASL...
January 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28106942/assessment-of-intracranial-meningioma-associated-calcifications-using-susceptibility-weighted-mri
#8
Lisa C Adams, Sarah M Böker, Yvonne Y Bender, Eva M Fallenberg, Moritz Wagner, Ralph Buchert, Bernd Hamm, Marcus R Makowski
PURPOSE: To determine the diagnostic accuracy of susceptibility-weighted MRI (SW-MRI) for the detection of intracranial meningioma-associated calcifications compared with standard MR sequences, using computed tomography (CT) as a reference standard. MATERIALS AND METHODS: 354 patients, who had received both a CT and a 1.5 Tesla clinical brain MRI with SW-MRI sequences between January 2014 and July 2016, were retrospectively evaluated and 316 patients were included...
January 20, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#9
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28089254/volumetric-analysis-of-carotid-plaque-components-and-cerebral-microbleeds-a-correlative-study
#10
Luca Saba, Roberto Sanfilippo, Michele di Martino, Michele Porcu, Roberto Montisci, Pierleone Lucatelli, Michele Anzidei, Marco Francone, Jasjit S Suri
PURPOSE: The purpose of this work was to explore the association between carotid plaque volume (total and the subcomponents) and cerebral microbleeds (CMBs). MATERIALS AND METHODS: Seventy-two consecutive (male 53; median age 64) patients were retrospectively analyzed. Carotid arteries were studied by using a 16-detector-row computed tomography scanner whereas brain was explored with a 1.5 Tesla system. CMBs were studied using a T2*-weighted gradient-recalled echo sequence...
January 11, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28087578/distinct-binding-of-pet-ligands-pbb3-and-av-1451-to-tau-fibril-strains-in-neurodegenerative-tauopathies
#11
Maiko Ono, Naruhiko Sahara, Katsushi Kumata, Bin Ji, Ruiqing Ni, Shunsuke Koga, Dennis W Dickson, John Q Trojanowski, Virginia M-Y Lee, Mari Yoshida, Isao Hozumi, Yasumasa Yoshiyama, John C van Swieten, Agneta Nordberg, Tetsuya Suhara, Ming-Rong Zhang, Makoto Higuchi
Diverse neurodegenerative disorders are characterized by deposition of tau fibrils composed of conformers (i.e. strains) unique to each illness. The development of tau imaging agents has enabled visualization of tau lesions in tauopathy patients, but the modes of their binding to different tau strains remain elusive. Here we compared binding of tau positron emission tomography ligands, PBB3 and AV-1451, by fluorescence, autoradiography and homogenate binding assays with homologous and heterologous blockades using tauopathy brain samples...
January 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#12
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28060941/computed-tomographic-distinction-of-intimal-and-medial-calcification-in-the-intracranial-internal-carotid-artery
#13
Remko Kockelkoren, Annelotte Vos, Wim Van Hecke, Aryan Vink, Ronald L A W Bleys, Daphne Verdoorn, Willem P Th M Mali, Jeroen Hendrikse, Huiberdina L Koek, Pim A de Jong, Jill B De Vis
BACKGROUND: Intracranial internal carotid artery (iICA) calcification is associated with stroke and is often seen as a proxy of atherosclerosis of the intima. However, it was recently shown that these calcifications are predominantly located in the tunica media and internal elastic lamina (medial calcification). Intimal and medial calcifications are thought to have a different pathogenesis and clinical consequences and can only be distinguished through ex vivo histological analysis. Therefore, our aim was to develop CT scoring method to distinguish intimal and medial iICA calcification in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28059798/sporadic-cases-with-novel-mutations-and-pedigree-in-hereditary-leukoencephalopathy-with-axonal-spheroids
#14
Liyong Wu, Jia Liu, Longze Sha, Xianling Wang, Jieying Li, Jing Dong, Jianping Jia
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28009949/a-patient-with-quadricuspid-aortic-valve-and-ischemic-stroke
#15
Maximillian Krisper, Clemens Köhncke, Felicitas Escher, Daniel A Morris, Carsten Tschöpe, Burkert Pieske
Quadricuspid aortic valve (QAV) is a rare congenital cardiac defect. Aortic regurgitation is the predominant hemodynamically relevant abnormality in patients with QAV, and the main reason for patients requiring valve surgery. Calcific valve disease of the left heart valves is classified as 'low embolic risk' according to current guidelines. However, it remains an important risk factor of cardiovascular events, including ischemic stroke. A 71-year-old woman presented with new-onset aphasia and hemiparesis of the right side of her body...
July 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/27994696/primary-hydatid-cyst-of-the-brain-in-a-child-a-case-report
#16
Alessia Imperato, Alessandro Consales, Marcello Ravegnani, Elio Castagnola, Roberto Bandettini, Andrea Rossi
BACKGROUND: Primary intracranial hydatid cyst is a rare location of human echinococcosis whose spontaneous, traumatic or even iatrogenic rupture, as in case of misdiagnosis, may cause anaphylactic reactions and dissemination. CASE REPORT: We discuss the management of a 9-year-old boy who was admitted to our Emergency Department with an intracranial hypertension syndrome. Head CT scan and brain MRI showed a huge intra-axial right temporo-parieto-occipital cyst with a marginal calcification, associated with left ventricular uncompensated hydrocephalus...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27992429/high-prevalence-of-asymptomatic-neurocysticercosis-in-an-endemic-rural-community-in-peru
#17
Luz M Moyano, Seth E O'Neal, Viterbo Ayvar, Guillermo Gonzalvez, Ricardo Gamboa, Percy Vilchez, Silvia Rodriguez, Joe Reistetter, Victor C W Tsang, Robert H Gilman, Armando E Gonzalez, Hector H Garcia
BACKGROUND: Neurocysticercosis is a common helminthic infection of the central nervous system and an important cause of adult-onset epilepsy in endemic countries. However, few studies have examined associations between neurologic symptoms, serology and radiographic findings on a community-level. METHODOLOGY: We conducted a population-based study of resident's ≥2 years old in a highly endemic village in Peru (pop. 454). We applied a 14 -question neurologic screening tool and evaluated serum for antibodies against Taenia solium cysticercosis using enzyme-linked immunoelectrotransfer blot (LLGP-EITB)...
December 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27984190/mutation-screening-of-pdgfb-gene-in-chinese-population-with-primary-familial-brain-calcification
#18
Xiang-Ping Yao, Chong- Wang, Hui-Zhen Su, Xin-Xin Guo, Ying-Qian Lu, Miao Zhao, Yao-Bin Liu, Jing-Hui Lai, Hai-Ting Chen, Ning Wang, Wan-Jin Chen
BACKGROUND: Until recently, primary familial brain calcification (PFBC) has been determined by four genes, SLC20A2, PDGFRB, PDGFB and XPR1. No studies have been carried out to analyze the gene mutation of PDGFB in Chinese population. OBJECTIVE: To screen mutations of PDGFB gene in a large cohort of Chinese PFBC patients with no SLC20A2 mutations. METHODS: We recruited 192 PFBC patients, including 21 index cases and 171 sporadic cases, in our study...
October 28, 2016: Gene
https://www.readbyqxmd.com/read/27960197/birth-defects-among-fetuses-and-infants-of-us-women-with-evidence-of-possible-zika-virus-infection-during-pregnancy
#19
Margaret A Honein, April L Dawson, Emily E Petersen, Abbey M Jones, Ellen H Lee, Mahsa M Yazdy, Nina Ahmad, Jennifer Macdonald, Nicole Evert, Andrea Bingham, Sascha R Ellington, Carrie K Shapiro-Mendoza, Titilope Oduyebo, Anne D Fine, Catherine M Brown, Jamie N Sommer, Jyoti Gupta, Philip Cavicchia, Sally Slavinski, Jennifer L White, S Michele Owen, Lyle R Petersen, Coleen Boyle, Dana Meaney-Delman, Denise J Jamieson
Importance: Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. Objective: To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Design, Setting, and Participants: Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments...
3, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27957632/epileptic-seizure-as-the-first-symptom-of-hypoparathyroidism-in-children-does-not-require-antiepileptic-drugs
#20
Meng-Jia Liu, Jiu-Wei Li, Xiu-Yu Shi, Lin-Yan Hu, Li-Ping Zou
OBJECTIVE: Patients with hypoparathyroidism exhibit metabolic disorders (hypocalcemia) and brain structural abnormalities (brain calcifications). Currently, studies have determined whether antiepileptic drug (AED) treatment is required for epileptic seizures in children with hypoparathyroidism. METHOD: This study aims to evaluate the data of two medical centers in Beijing based on the diagnosis of epileptic seizures as the first symptom of hypoparathyroidism in children...
December 12, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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