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https://www.readbyqxmd.com/read/28628708/brain-calcifications-in-adult-onset-genetic-leukoencephalopathies-a-review
#1
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
#2
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
#3
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 16, 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
#4
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
#5
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...
June 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28583742/visual-and-motor-deficits-in-grown-up-mice-with-congenital-zika-virus-infection
#6
Liyuan Cui, Peng Zou, Er Chen, Hao Yao, Hao Zheng, Qian Wang, Jing-Ning Zhu, Shibo Jiang, Lu Lu, Jiayi Zhang
Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal...
April 24, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28578517/phosphate-transporters-expression-in-patients-with-primary-familial-brain-calcifications
#7
L F Pimentel, R R Lemos, J R Oliveira
Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFβ, PDGFRβ, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations...
June 3, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28575905/association-of-white-matter-lesions-cerebral-atrophy-intracranial-extravascular-calcifications-and-ventricular-communicating-hydrocephalus-with-delirium-among-veterans
#8
Mark B Detweiler, Rathnakara M Sherigar, Geoffrey Bader, Kelly Sullivan, Arline Kenneth, Naciye Kalafat, Pavan Reddy, Brian Lutgens
OBJECTIVES: The literature regarding the underlying neuropathogenesis of delirium on head computed tomography (CT) is limited. The aim of this research was to investigate, using case-control retrospective chart review, the association of white matter lesions (WML), cerebral atrophy, intracranial extravascular calcifications, and ventricular-communicating hydrocephalus in older adult military veterans with and without delirium hospitalized in a Veterans Affairs Medical Center. METHODS: Head CT scans were examined for WML, atrophy, and intracranial extravascular calcifications globally in the cortex, subcortex (frontal, temporal, parietal, occipital lobes), basal ganglia (globus pallidus, caudate, putamen), and internal capsule, in addition to the presence of ventricular-communicating hydrocephalus...
June 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28556368/a-pdgfb-mutation-causes-paroxysmal-nonkinesigenic-dyskinesia-with-brain-calcification
#9
REVIEW
Cheng Wang, Xixiang Ma, Xuan Xu, Benyan Huang, Hao Sun, Lulu Li, Min Zhang, Jing Yu Liu
No abstract text is available yet for this article.
May 29, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28549916/utility-of-carotid-ultrasonography-in-management-of-an-atypical-high-vascular-risk-patient-with-recurrent-calcified-cerebral-embolic-stroke
#10
John W Liang, Jesse Weinberger, Aaron Tansy
OBJECTIVE: To describe a case of recurrent calcified cerebral emboli (CCE)-related acute ischemic stroke (AIS) and the diagnostic utility of plaque morphology characterization on carotid ultrasound. BACKGROUND: CCE are a rare cause of AIS. CCE-related AIS has been previously reported only in high vascular-risk patients such as those with severe carotid stenosis, widespread atheromatous disease, or cardiac valvular disease. CCE-related AIS from a carotid origin has not been reported in patients without carotid stenosis...
May 23, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28547872/cerebral-white-matter-lesion-burden-is-associated-with-the-degree-of-aortic-valve-calcification-and-predicts-peri-procedural-cerebrovascular-events-in-patients-undergoing-transcatheter-aortic-valve-implantation-tavi
#11
Jonas Doerner, Patrick A Kupczyk, Marius Wilsing, Julian A Luetkens, Klaus Storm, Rolf Fimmers, Tilman Hickethier, Lars Eichhorn, Claas P Naehle, Hans H Schild, Nikos Werner, Georg Nickenig, Alexander Ghanem
OBJECTIVES: To investigate the impact of aortic valve calcification and brain morphology on acute peri-procedural cerebrovascular events (CVEs) in patients undergoing transcatheter aortic valve implantation (TAVI). BACKGROUND: Aortic valve calcification and stenosis can be assessed with echocardiography. Cerebral magnetic resonance imaging (MRI) depicts and quantifies morphological signs of hypoperfusion and vascular embolism, which is of special interest in patients with severe aortic stenosis...
May 26, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28522665/nonmicrocephalic-infants-with-congenital-zika-syndrome-suspected-only-after-neuroimaging-evaluation-compared-with-those-with-microcephaly-at-birth-and-postnatally-how-large-is-the-zika-virus-iceberg
#12
M F V V Aragao, A C Holanda, A M Brainer-Lima, N C L Petribu, M Castillo, V van der Linden, S C Serpa, A G Tenório, P T C Travassos, M T Cordeiro, C Sarteschi, M M Valenca, A Costello
BACKGROUND AND PURPOSE: Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS: We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 year of age or younger. Patients with congenital Zika syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without microcephaly...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28505611/novel-insights-in-fetal-cardiomyopathy-due-to-in-utero-herpes-simplex-virus-infection
#13
Tamara Margit Jutta Pahlitzsch, Elisa Theresa Helbig, Nanette Sarioglu, Larry Hinkson, Katharina von Weizsäcker, Wolfgang Henrich
This is a case report of fatal cardiomyopathy in a fetus following maternal intrauterine infection with herpes simplex virus (HSV), despite the mother having no symptoms of an infection. The fetus showed signs of a disseminated infection affecting the heart, brain, lungs, liver, adrenal glands, and skin. HSV cardiomyopathy, characterized by vast necrosis, extensive calcifications, and inflammatory infiltration, was found to be the cause of intrauterine fetal death. To our knowledge, this is a unique report of an asymptomatic maternal nonprimary or recurrent HSV infection that induced a transmission of HSV resulting in extensive and fatal changes in the fetal heart...
May 16, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28487953/interleukin%C3%A2-6-induces-an-epithelial%C3%A2-mesenchymal-transition-phenotype-in-human-adamantinomatous-craniopharyngioma-cells-and-promotes-tumor-cell-migration
#14
Jie Zhou, Chao Zhang, Jun Pan, Ligang Chen, Song-Tao Qi
Total resection of adamantinomatous craniopharyngioma (ACP) is complex and often leads to postoperative recurrence. This is due to the tendency of the tumor to invade the surrounding brain tissue and the generation of a local inflammatory state between the tumor cells and parenchyma. While there is evidence to suggest that interleukin‑6 (IL‑6) induces craniopharyngioma (CP)‑associated inflammation, particularly in ACP, the role of IL‑6 in the progression of ACP remains unclear. The results of the present study demonstrated that CP inflammation was associated with pathological classification, extent of surgery, degree of calcification and postoperative hypothalamic status scale...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28473946/fahr-s-syndrome-misdiagnosed-as-schizophrenia-a-case-report
#15
Syeda Naqvi, Samiullah Arshad, Rida Hanif, Khaled Abdelmaqsoud Hamed Elfert
Fahr's syndrome is a rare disease entity which presents with multiple neurological symptoms like movement disorder or cognitive impairment. We describe a case of a young male patient who presented with symptoms mimicking schizophrenia. He failed to improve despite medical management. He developed an episode of seizure which prompted us to make a computed tomography (CT) scan of the brain, revealing bilateral calcification of basal ganglia, despite normal serum calcium and parathyroid hormone (PTH) levels. This case experience explains the need to rule out all pathological causes of hallucinations before making a diagnosis of schizophrenia...
March 2, 2017: Curēus
https://www.readbyqxmd.com/read/28459414/postmortem-findings-for-7-neonates-with-congenital-zika-virus-infection
#16
Anastácio Q Sousa, Diane I M Cavalcante, Luciano M Franco, Fernanda M C Araújo, Emília T Sousa, José Telmo Valença-Junior, Dionne B Rolim, Maria E L Melo, Pedro D T Sindeaux, Marialva T F Araújo, Richard D Pearson, Mary E Wilson, Margarida M L Pompeu
Postmortem examination of 7 neonates with congenital Zika virus infection in Brazil revealed microcephaly, ventriculomegaly, dystrophic calcifications, and severe cortical neuronal depletion in all and arthrogryposis in 6. Other findings were leptomeningeal and brain parenchymal inflammation and pulmonary hypoplasia and lymphocytic infiltration in liver and lungs. Findings confirmed virus neurotropism and multiple organ infection.
July 15, 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28450688/a-case-of-55-year-old-man-with-first-ever-generalized-seizure-diagnosed-with-sturge-weber-syndrome-type-iii-by-characteristic-mri-findings
#17
Hidehiro Ishikawa, Yuichiro Ii, Atsushi Niwa, Keita Matsuura, Masayuki Maeda, Hidekazu Tomimoto
A 55-year-old man with no mental retardation had presented a history of frequent transient clumsiness of his right upper and lower extremities for about 20 years. He was admitted to a general hospital with weakness of right side of the body, and first-ever generalized seizure attack occurred the next day. Brain CT showed calcification in the left cerebral cortices. So he was referred to our hospital. On neurological examination, he had mild clumsiness of his right upper limb and right pyramidal tract sign. He had neither facial port-wine stain nor glaucoma...
April 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28431773/atypical-moyamoya-syndrome-with-brain-calcification-and-stenosis-of-abdominal-aorta-and-renal-arteries
#18
Hideki Uchikawa, Katsunori Fujii, Mayuko Fujita, Tomoko Okunushi, Naoki Shimojo
Moyamoya syndrome is a progressive cerebrovascular disease that is characterized by stenosis of the terminal portion of the internal carotid artery and its main branches, in combination with an accompanying disease. We herein describe an 8-year-old boy exhibiting transient loss of consciousness, who had recurrent seizures in infancy with progressive brain calcification. On admission, he was alert but magnetic resonance angiography showed bilateral stenosis of the whole internal carotid artery and proliferation of vascular collaterals, and brain CT revealed calcification on bilateral putamen...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28425047/can-anti-vascular-endothelial-growth-factor-antibody-reverse-radiation-necrosis-a-preclinical-investigation
#19
Chong Duan, Carlos J Perez-Torres, Liya Yuan, John A Engelbach, Scott C Beeman, Christina I Tsien, Keith M Rich, Robert E Schmidt, Joseph J H Ackerman, Joel R Garbow
Anti-vascular endothelial growth factor (anti-VEGF) antibodies are a promising new treatment for late time-to-onset radiation-induced necrosis (RN). We sought to evaluate and validate the response to anti-VEGF antibody in a mouse model of RN. Mice were irradiated with the Leksell Gamma Knife Perfexion™ and then treated with anti-VEGF antibody, beginning at post-irradiation (PIR) week 8. RN progression was monitored via anatomic and diffusion MRI from weeks 4-12 PIR. Standard histology, using haematoxylin and eosin (H&E), and immunohistochemistry staining were used to validate the response to treatment...
April 19, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28424147/treatment-of-leukoencephalopathy-with-calcifications-and-cysts-with-bevacizumab
#20
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. It is typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. Although leukoencephalopathy with calcifications and cysts affects only the central nervous system, it demonstrates remarkable neuropathologic and radiologic overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract, and bone...
March 23, 2017: Pediatric Neurology
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