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https://www.readbyqxmd.com/read/28723803/leukoencephalopathy-with-calcifications-and-cysts-a-case-report
#1
Yubao Ma, Xingwen Zhang, Chen Cheng, Quangang Xu, Hai Di, Jiao Zhao, Dehui Huang, Shengyuan Yu
RATIONALE: Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, cerebral calcifications, and parenchymal cysts. Due to its rarity, the clinical, radiological, and histopathological features have yet to be well elucidated. PATIENT CONCERNS: The first case is a 35-year-old female who was asymptomatic. A giant intracranial cyst was incidentally detected radiologically, and it was slowly growing in the recent 10 years...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#2
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28715425/elimination-of-huntingtin-in-the-adult-mouse-leads-to-progressive-behavioral-deficits-bilateral-thalamic-calcification-and-altered-brain-iron-homeostasis
#3
Paula Dietrich, Irudayam Maria Johnson, Shanta Alli, Ioannis Dragatsis
Huntington's Disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by cognitive, behavioral and motor dysfunctions. HD is caused by a CAG repeat expansion in exon 1 of the HD gene that is translated into an expanded polyglutamine tract in the encoded protein, huntingtin (HTT). While the most significant neuropathology of HD occurs in the striatum, other brain regions are also affected and play an important role in HD pathology. To date there is no cure for HD, and recently strategies aiming at silencing HTT expression have been initiated as possible therapeutics for HD...
July 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28714494/computerized-axial-tomography-findings-in-children-with-afebrile-seizures-a-hospital-based-study-at-eastern-nepal
#4
P Poudel, M K Gupta, S P Kafle
BACKGROUND: Computerized Tomography can be performed in resource limited areas where Magnetic Resonance Imaging is less practical. This study was conducted to find out the proportion of cases with abnormal CT scan and findings of CT scan in children with afebrile seizures in a resource limited area. METHODS: This prospective study was conducted from 1st July 2009 to 31st March 2014 in a university hospital of Nepal. Patients (1 month to 20 years of age) presenting with history of afebrile seizure were included...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28712720/manual-aspiration-thrombectomy-in-patients-with-acute-stroke-related-calcified-cerebral-emboli
#5
Esther Koh, Hyo Sung Kwak, Gyung-Ho Chung
OBJECTIVE: The aim of this study was to evaluate the effectiveness of mechanical aspiration thrombectomy (MAT) in patients with acute ischemic stroke from calcified cerebral emboli. METHODS: Procedural results were reviewed for acute stroke patients with clinically neurological deficits who underwent recanalization from October 2012 through September 2015. Initial imaging studies and cerebral angiography were analyzed. RESULTS: Of the total number of patients with acute stroke, 5 patients were confirmed to have acute ischemic stroke by calcified cerebral emboli...
July 13, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28707070/functional-role-of-matrix-gla-protein-in-glioma-cell-migration
#6
Mu-Hui Fu, Chih-Yen Wang, Yun-Ti Hsieh, Kuan-Min Fang, Shun-Fen Tzeng
Glioblastoma multiforme (GBM) is the most common and aggressive brain tumor subtype. Despite that metastasis of GBM beyond the central nervous system (CNS) is rare, its malignancy is attributed to the highly infiltration trait, leading to the difficulty of complete surgical excision. Matrix gla protein (MGP) is a vitamin K-dependent small secretory protein, and functions as a calcification inhibitor. The involvement of MGP function in glioma cell dynamics remains to be clarified. The study showed that a low proliferative rat C6 glioma cell line named as C6-2 exhibited faster migratory and invasive capability compared to that observed in a high tumorigenic rat C6 glioma cell line (called as C6-1)...
July 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28706620/adams-oliver-syndrome-with-unusual-central-nervous-system-findings-and-an-extrahepatic-portosystemic-shunt
#7
Carlos Pérez-García, Yolanda Ruíz Martín, Alejandra Aguado Del Hoyo, Carlos Marín Rodríguez, Minia Campos Domínguez
We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705824/carotid-plaque-morphology-and-ischemic-vascular-brain-disease-on-mri
#8
Q J A van den Bouwhuijsen, M W Vernooij, B F J Verhaaren, H A Vrooman, W J Niessen, G P Krestin, M A Ikram, O H Franco, A van der Lugt
BACKGROUND AND PURPOSE: Vulnerable carotid plaque components are reported to increase the risk of cerebrovascular events. Yet, the relation between plaque composition and subclinical ischemic brain disease is not known. We studied, in the general population, the association between carotid atherosclerotic plaque characteristics and ischemic brain disease on MR imaging. MATERIALS AND METHODS: From the population-based Rotterdam Study, 951 participants underwent both carotid MR imaging and brain MR imaging...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28685839/lipoid-proteinosis-a-case-with-distinct-histopathological-and-radiological-findings
#9
B K Brar, S Jain, S K Brar
Lipoid proteinosis is a rare inherited genodermatosis characterized by hyaline deposits in various tissues. Clinically, it manifests with cutaneous as well as extracutaneous features. PAS reactive hyaline deposits in the upper dermis, with localization around blood vessels and eccrine sweat glands, in particular, is the histopathological hallmark finding. On brain imaging, bilateral symmetrical temporal lobe calcifications are considered to be pathognomonic of this disorder. We report a case of lipoid proteinosis in which hyaline deposits were present in the papillary and reticular dermis, without being seen at the periphery of eccrine sweat glands, along with dystrophic calcification...
July 7, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28681124/toe-brachial-index-as-a-predictor-of-cardiovascular-disease-and-all-cause-mortality-in-people-with-type-2-diabetes-and-microalbuminuria
#10
Emilie H Zobel, Bernt Johan von Scholten, Henrik Reinhard, Frederik Persson, Tine W Hansen, Hans-Henrik Parving, Peter K Jacobsen, Peter Rossing
AIMS/HYPOTHESIS: The study aimed to evaluate toe-brachial index (TBI) and ankle-brachial index (ABI) as determinants of incident cardiovascular disease (CVD) and all-cause mortality in people with type 2 diabetes and microalbuminuria. METHODS: This was a prospective study including 200 participants. Unadjusted and adjusted (traditional risk factors and additional inclusion of N-terminal pro-brain natriuretic peptide [NT-proBNP] and coronary artery calcification) Cox regression models were performed...
July 5, 2017: Diabetologia
https://www.readbyqxmd.com/read/28679558/effect-modification-of-chronic-kidney-disease-on-the-association-of-circulating-and-imaging-cardiac-biomarkers-with-outcomes
#11
L Parker Gregg, Beverley Adams-Huet, Xilong Li, Gates Colbert, Nishank Jain, James A de Lemos, S Susan Hedayati
BACKGROUND: Cardiac troponin T and brain natriuretic peptide (BNP) are elevated in >50% of dialysis patients and are associated with poor outcomes. Few data investigated these associations in earlier chronic kidney disease (CKD). METHODS AND RESULTS: We studied whether CKD modified associations of elevated BNP, N-terminal-pro-BNP, high-sensitivity cardiac troponin T, coronary artery calcification, and left ventricular hypertrophy with all-cause death and cardiovascular death/events in 3218 multiethnic individuals followed for 12...
July 5, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28673685/controversies-in-the-treatment-of-seizures-associated-with-neurocysticercosis
#12
REVIEW
Gagandeep Singh, Ravina Sharma
Seizures are the commonest manifestation of brain parenchymal cysticercosis. In terms of pathophysiological basis and prognostic significance of the seizures, a distinction might be applied between viable cysts, solitary cysticercus granuloma and calcific cysticerci. A number of uncertainties shroud the management of seizures in people with neurocysticercosis (NCC). Although antihelminthic treatment is effective in eliminating viable cysts and possibly cysticercus granulomas, its effect on seizure outcome remains uncertain...
June 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28667395/-intra-axial-brain-tumors-in-adults-on-the-basis-of-the-2016-who-classification
#13
REVIEW
N Peitgen, P Papanagiotou
CLINICAL/METHODICAL ISSUE: The influence of the World Health Organization (WHO) classification from 2016 on the radiological diagnosis for tumors of the central nervous system (CNS) in adults. STANDARD RADIOLOGICAL METHODS: Computed tomography (CT), magnetic resonance imaging (MRI) and MR spectroscopy. PRACTICAL RECOMMENDATIONS: In order to come as close as possible to the correct diagnosis of CNS tumors, MRI is the long-standing accepted method of choice that can in some cases be supported by the use of CT to demonstrate calcification or bone destruction...
June 30, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28639365/vascular-calcification-vitamin-k-and-warfarin-therapy-possible-or-plausible-connection
#14
Aino Siltari, Heikki Vapaatalo
Atherosclerosis is a pathological process underpinning many cardiovascular diseases; it is the main cause of global mortality. Atherosclerosis is characterized by an invasion of inflammatory cells, accumulation of lipids and the formation of fatty streaks (plaques) which subsequently allow accumulation of calcium and other minerals leading to a disturbance in the vascular endothelium and its regulatory role in arterial function. Vascular calcification is a different process, stringently regulated mainly by local factors, in which osteoblast-like cells accumulate in the muscular layer of arteries ultimately taking on the physiological appearance of bone...
June 21, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28638259/global-alert-zika-virus-an-emerging-arbovirus
#15
REVIEW
Zulal Ozkurt, Esra Cinar Tanriverdi
Zika virus (ZIKV) is an arbovirus of the Flavivirus genus, and it has an envelope and a single RNA molecule. In early 2016, the World Health Organization declared ZIKV infection to be an emerging global health threat. The major transmission route of the virus to humans is Aedes mosquitoes. ZIKV can be transmitted between humans by transplacental, perinatal, and sexual routes and via blood and body fluids. ZIKV infection usually results in a mild and self-limiting disease with low-grade fever, conjunctivitis, and periorbital edema...
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28628708/brain-calcifications-in-adult-onset-genetic-leukoencephalopathies-a-review
#16
Xavier Ayrignac, Gaël Nicolas, Clarisse Carra-Dallière, Didier Hannequin, Pierre Labauge
Importance: Adult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments. In the new era of genomics, the challenging interpretation of individual genetic variations requires an accurate phenotypic description and classification. Clinical and magnetic resonance imaging (MRI)-based approaches have been proposed to improve the diagnostic process of adult-onset leukoencephalopathies...
June 19, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28624828/unique-imaging-features-enabling-the-prenatal-diagnosis-of-developmental-venous-anomalies-a-persistent-echogenic-brain-lesion-drained-by-a-collecting-vein-in-contrast-with-normal-brain-parenchyma-on-mri
#17
Karina Krajden Haratz, Alon Peled, Boris Weizman, Liat Gindes, Mordechai Tamarkin, Dorit Lev, Dvora Kidron, Liat Ben-Sira, Gustavo Malinger, Tally Lerman-Sagie, Zvi Leibovitz
OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals...
June 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28622332/comparison-of-monocyte-gene-expression-among-patients-with-neurocysticercosis-associated-epilepsy-idiopathic-epilepsy-and-idiopathic-headaches-in-india
#18
COMPARATIVE STUDY
Vasudevan Prabhakaran, Douglas A Drevets, Govindan Ramajayam, Josephine J Manoj, Michael P Anderson, Jay S Hanas, Vedantam Rajshekhar, Anna Oommen, Hélène Carabin
BACKGROUND: Neurocysticercosis (NCC), a neglected tropical disease, inflicts substantial health and economic costs on people living in endemic areas such as India. Nevertheless, accurate diagnosis using brain imaging remains poorly accessible and too costly in endemic countries. The goal of this study was to test if blood monocyte gene expression could distinguish patients with NCC-associated epilepsy, from NCC-negative imaging lesion-free patients presenting with idiopathic epilepsy or idiopathic headaches...
June 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28609135/primary-familial-brain-calcifications-linked-with-a-novel-slc20a2-gene-mutation-in-a-chinese-family
#19
Tao-Mian Mi, Wei Mao, Yan-Ning Cai, Cai-Xia Yang, Chao-Dong Wang, Er-He Xu, Hui Zhang, Piu Chan
It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade, also, the proband presented with schizophrenia for 40 years. Next Generation Sequencing identified a novel nonsense heterozygous substitution c...
June 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28594771/serial-head-and-brain-imaging-of-17-fetuses-with-confirmed-zika-virus-infection-in-colombia-south-america
#20
Miguel Parra-Saavedra, Jennita Reefhuis, Juan Pablo Piraquive, Suzanne M Gilboa, Martina L Badell, Cynthia A Moore, Marcela Mercado, Diana Valencia, Denise J Jamieson, Mauricio Beltran, Magda Sanz-Cortes, Ana Maria Rivera-Casas, Mayel Yepez, Guido Parra, Martha Ospina Martinez, Margaret A Honein
OBJECTIVE: To evaluate fetal ultrasound and magnetic resonance imaging findings among a series of pregnant women with confirmed Zika virus infection to evaluate the signs of congenital Zika syndrome with respect to timing of infection. METHODS: We conducted a retrospective case series of pregnant women referred to two perinatal clinics in Barranquilla and Ibagué, Colombia, who had findings consistent with congenital Zika syndrome and Zika virus infection confirmed in maternal, fetal, or neonatal samples...
July 2017: Obstetrics and Gynecology
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