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https://www.readbyqxmd.com/read/28816772/a-case-of-lenticulostriate-stroke-due-to-minor-closed-head-injury-in-a-2-year-old-child-role-of-mineralizing-angiopathy
#1
Emin Fidan, Dana D Cummings, Mioara D Manole
OBJECTIVE: Cerebral infarction due to minor head injury is rare. Mineralizing angiopathy is considered a predisposing factor for lenticulostriate stroke after minor closed head injury. This entity is characterized by infarction of the basal ganglia and most often occurs in young children, from infancy to 2 years of age. Symptoms usually occur immediately after the injury. METHODS AND RESULTS: We present the case of a previously healthy 2-year-old female child presenting with right facial hemiparesis and aphasia, along with right arm and leg weakness that occurred immediately after a fall from the couch onto a carpeted floor...
July 3, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28814492/influence-of-arterial-stiffness-on-cardiovascular-outcome-in-patients-without-high-blood-pressure
#2
Keishi Ichikawa, Satoru Sakuragi, Takahiro Nishihara, Masahiro Tsuji, Atsushi Mori, Fumi Yokohama, Tadashi Wada, Daiji Hasegawa, Kenji Kawamoto, Machiko Tanakaya, Yusuke Katayama, Hiroshi Ito
OBJECTIVE: Although blood pressure (BP) is a major determinant of arterial stiffness, whether high pulse wave velocity (PWV) adversely influences cardiac parameters and cardiovascular (CV) outcome in patients without high BP remains unclear. METHODS: Outpatients without high BP (n=320), defined as systolic BP ≥140 mm Hg, were enrolled in this retrospective study. At baseline, all patients underwent echocardiography and multidetector CT to determine the coronary artery calcification (CAC) score...
August 16, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28804758/brain-calcifications-and-pcdh12-variants
#3
Gaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, Roberta R Lemos, Joana Ferreira, Denis Moura, Maria J Sobrido, Anne-Claire Richard, Alma Rosa Lopez, Andrea Legati, Jean-François Deleuze, Anne Boland, Olivier Quenez, Pierre Krystkowiak, Pascal Favrole, Daniel H Geschwind, Adi Aran, Reeval Segel, Ephrat Levy-Lahad, Dennis W Dickson, Giovanni Coppola, Rosa Rademakers, João R M de Oliveira
OBJECTIVE: To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications. METHODS: We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC). RESULTS: We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28780216/neuroimaging-findings-of-congenital-toxoplasmosis-cytomegalovirus-and-zika-virus-infections-a-comparison-of-three-cases
#4
Heron Werner, Pedro Daltro, Tatiana Fazecas, Mohammad Zare Mehrjardi, Edward Araujo Júnior
OBJECTIVE: Toxoplasmosis, cytomegalovirus (CMV), and Zika virus (ZIKV) are among the common infectious agents that may infect the fetuses vertically. Clinical presentations of these congenital infections overlap significantly, and it is usually impossible to determine the causative agent clinically. The objective was the comparison of neuroimaging findings in three fetuses who underwent intrauterine infection by toxoplasmosis, CMV, and ZIKV. METHODS: Three confirmed cases of congenital toxoplasmosis, CMV, and ZIKV infections were included in the study over 7 months prospectively...
August 2, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28766044/analysis-of-gene-expression-and-functional-characterization-of-xpr1-a-pathogenic-gene-for-primary-familial-brain-calcification
#5
Xiang-Ping Yao, Miao Zhao, Chong Wang, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Hai-Ting Chen, Jing-Hui Lai, Yao-Bin Liu, Ning Wang, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a neuropsychiatric disorder characterized by bilateral cerebral calcification with diverse neurologic or psychiatric symptoms. Recently, XPR1 variation has accounted for PFBC as another new causative gene. However, little is known about the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and PDGFB). The aim of this study was to further clarify the role of XPR1 in PFBC brain pathology. As a result, gene expression profiles showed that XPR1 mRNA was widely expressed throughout the mouse brain...
August 2, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28762473/late-diagnosis-and-atypical-brain-imaging-of-aicardi-gouti%C3%A3-res-syndrome-are-we-failing-to-diagnose-aicardi-gouti%C3%A3-res-syndrome-2
#6
Leah Svingen, Mitchell Goheen, Rena Godfrey, Colleen Wahl, Eva H Baker, William A Gahl, May Christine V Malicdan, Camilo Toro
Aicardi-Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon-mediated innate immune response. Most patients with AGS present with progressive microcephaly, spasticity, and cognitive impairment. Some, especially those with type 2 (AGS2), manifest milder phenotypes, reduced childhood mortality, and relative preservation of physical and cognitive abilities...
August 1, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#7
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28750365/a-novel-evaluation-for-predicting-aortic-complicated-lesions-using-calcification-on-chest-x-ray
#8
Yoshitaka Yamaguchi, Tomotaka Tanaka, Sohei Yoshimura, Masatoshi Koga, Kazuyuki Nagatsuka, Kazunori Toyoda
BACKGROUND: The aorta is a significant source of cerebral thromboembolisms. Aortic complicated lesions (ACLs) are key findings on transesophageal echocardiography (TEE) for assessing aortic sources of emboli to the brain. TEE is sometimes avoided due to its invasiveness. However, few reports have examined alternative methods for predicting ACLs. We investigated relationships between aortic arch calcification (AAC) on chest X-ray and ACLs. METHODS: Participants comprised 300 patients with acute ischemic stroke or transient ischemic attack who underwent TEE for the evaluation of the aortic arch and heart...
July 28, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28748214/functionally-pathogenic-ears2-variants-in-vitro-may-not-manifest-a-phenotype-in-vivo
#9
Nathan McNeill, Alessia Nasca, Aurelio Reyes, Benjamin Lemoine, Brandi Cantarel, Adeline Vanderver, Raphael Schiffmann, Daniele Ghezzi
OBJECTIVE: To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC). METHODS: Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity. RESULTS: Whole-exome sequencing uncovered compound heterozygous mutations in EARS2, c.328G>A (p.G110S), and c...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28740536/loca-lopa-myelopathy-is-prevention-better-than-cure
#10
Kamal Kishore Pandita, Sushil Razdan, Sarla Pandita
Manifestations of primary hypoparathyroidism are produced by neuromuscular irritability or by extraosseous calcifications. We present a patient of primary hypoparathyroidism who had extensive calcification of brain parenchyma, and was suffering from chronic, generalised and progressive stiffness of body due to cervical compressive myelopathy, caused by calcification of posterior longitudinal ligament and ligamentum flavum. By presenting this case we wanted to emphasize the usefulness of meticulous clinical examination to differentiate the stiffness caused by myelopathy from that which is caused by possible coexisting extrapyramidal disorder...
January 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28740483/a-case-with-spondyloenchondrodysplasia-treated-with-growth-hormone
#11
Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spondylar and metaphyseal dysplasias, and extraskeletal morbidity, such as neurological involvement and immune dysregulation, respectively. We report an affected boy with novel ACP5 mutations, a splice-site mutation (736-2 A>C) and a nonsense mutation (R176X)...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28736834/temporal-bone-chondroblastoma-imaging-characteristics-with-pathologic-correlation
#12
Sun-Won Park, Ji-Hoon Kim, Ji Hoon Park, Kyung Chul Moon, Jin Chul Paeng, Byung Se Choi, Younghen Lee, Jae Hyoung Kim, Roh-Eul Yoo, Koung Mi Kang, Soo Chin Kim, Seung Hong Choi, Tae Jin Yun, Chul Ho Sohn
BACKGROUND: Chondroblastoma commonly involves the temporal bone in the craniofacial region, but its imaging features have not been elucidated. This study aimed to describe the imaging features of temporal bone chondroblastoma with their pathologic correlation. METHODS: Radiopathologic correlation was performed in 5 patients with temporal bone chondroblastoma from our database and in 11 patients identified through a PubMed search. RESULTS: The cases of temporal bone chondroblastoma commonly involve the squamous part, temporal and infratemporal fossae, temporomandibular joint, and tympanic cavity, with the following features: high attenuation with calcification; heterogeneity; low signal intensity on T2-weighted imaging with enhancement; a smooth interface to the brain; and strong hypermetabolism on fluorodeoxyglucose (FDG) positron emission tomography (PET)/CT...
July 24, 2017: Head & Neck
https://www.readbyqxmd.com/read/28730268/detection-of-vessel-wall-calcifications-in-vertebral-arteries-using-susceptibility-weighted-imaging
#13
Lisa C Adams, Sarah M Böker, Yvonne Y Bender, Eva M Fallenberg, Moritz Wagner, Thomas Liebig, Bernd Hamm, Marcus R Makowski
PURPOSE: Calcification of the brain supplying arteries has been linked to an increased risk for cerebrovascular disease. The purpose of this study was to test the potential of susceptibility weighted MR imaging (SWMR) for the detection of vertebral artery calcifications, based on CT as a reference standard. METHODS: Four hundred seventy-four patients, who had received head CT and 1.5 T MR scans with SWMR, including the distal vertebral artery, between January 2014 and December 2016, were retrospectively evaluated and 389 patients were included...
July 20, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28723803/leukoencephalopathy-with-calcifications-and-cysts-a-case-report
#14
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
#15
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
#16
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 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
#17
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
#18
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
#19
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
#20
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
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