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https://www.readbyqxmd.com/read/29665789/idiopathic-basal-ganglia-calcification-associated-with-cerebral-micro-infarcts-a-case-report
#1
Takuma Nishimoto, Fumiaki Oka, Hideyuki Ishihara, Mizuya Shinoyama, Michiyasu Suzuki
BACKGROUND: Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disorder characterized by symmetric intracranial calcium deposition. We report a patient with IBGC associated with cerebral infarction due to impairment of cerebrovascular reactivity based on single-photon emission computed tomography (SPECT) with acetazolamide challenge. CASE PRESENTATION: A 66-year-old male presented with right conjugate deviation, right hemiparesis and total aphasia due to a convulsive seizure...
April 17, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29627011/inorganic-phosphorus-pi-in-csf-is-a-biomarker-for-slc20a2-associated-idiopathic-basal-ganglia-calcification-ibgc1
#2
Isao Hozumi, Hisaka Kurita, Kazuhiro Ozawa, Nobuyuki Furuta, Masatoshi Inden, Shin-Ichiro Sekine, Megumi Yamada, Yuichi Hayashi, Akio Kimura, Takashi Inuzuka, Mitsuru Seishima
INTRODUCTION: Idiopathic basal ganglia calcification (IBGC), also called Fahr's disease or recently primary familial brain calcification (PFBC), is characterized by abnormal deposits of minerals including calcium mainly and phosphate in the brain. Mutations in SLC20A2 (IBGC1 (merged with former IBGC2 and IBGC3)), which encodes PiT-2, a phosphate transporter, is the major cause of IBGC. Recently, Slc20a2-KO mice have been showed to have elevated levels of inorganic phosphorus (Pi) in cerebrospinal fluid (CSF); however, CSF Pi levels in patients with IBGC have not been fully examined...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29619907/severe-atherosclerosis-in-donor-liver-vasculature-an-illustrative-case-report-and-review-of-the-literatur
#3
Ayokunle S Olowofela, Oscar K Serrano, Raja Kandaswamy
As the scarcity of transplantable organs continues to increase, juxtaposed with an aging donor population, transplant surgeons are increasingly confronted with marginal organ offers. The presence of atherosclerosis in the donor allograft has been shown to compromise the vascular integrity and predispose to vascular complications in the transplanted liver. Here, we present a case of 54-year-old brain-dead donor who was discovered to have a severely diseased aorta during organ recovery. Pathologic evaluation revealed severe atherosclerosis with calcifications...
April 4, 2018: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/29619516/hippocampal-calcification-on-brain-ct-prevalence-and-risk-factors-in-a-cerebrovascular-cohort
#4
Remko Kockelkoren, Jill B De Vis, M Stavenga, Willem P Th M Mali, Jeroen Hendrikse, Annemieke M Rozemuller, Huiberdina L Koek, Irene C van der Schaaf, Birgitta K Velthuis, Pim A de Jong
OBJECTIVES: Recently, hippocampal calcification as observed on brain CT examinations was identified in over 20% of people over 50 years of age and a relation between hippocampal calcification and cognitive decline was shown. We determined the prevalence and investigated the vascular risk factors of hippocampal calcification in patients with cerebrovascular disease. METHODS: Hippocampal calcification was scored bilaterally on presence and severity on CT examinations in a cohort of 1130 patients with (suspected) acute ischaemic stroke...
April 4, 2018: European Radiology
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#5
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29607952/a-unique-case-with-oral-dyskinesia-chorea-ataxia-and-mild-cognitive-impairment-with-caudate-atrophy-and-characteristic-brain-calcifications
#6
Nozomi Hishikawa, Yusuke Fukui, Kota Sato, Mami Takemoto, Toru Yamashita, Yasuyuki Ohta, Koji Abe
The authors report a man who developed oral dyskinesia at 46 years of age, followed by slowly progressive choreic movement and mild cognitive impairment over 20 years. He showed caudate atrophy and four types of intracranial calcification in the hippocampus (dot-like), cerebellar white matter (vague-mass), occipital cortices (laminar), and cerebral white matter (linear). Linear-calcification in the corona radiata seems to be deposition along small veins, which may be related to the white matter changes and to the decreased regional cerebral blood flow in the frontal and parietal lobes...
March 30, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29561936/microcephaly-caused-by-congenital-zika-virus-infection-and-viral-detection-in-maternal-urine-during-pregnancy
#7
Vanessa Couras Regadas, Márcio de Castro E Silva, Lucas Giansante Abud, Luiz Mario Pereira Lopes Labadessa, Rafael Gouvêa Gomes de Oliveira, Cecília Hissae Miyake, Rodolfo Mendes Queiroz
Currently Latin America is undergoing a major epidemic of Zika virus, which is transmitted by Aedes mosquitoes. Concern for Zika virus infection has been increasing as it is suspected of causing brain defects in newborns such as microcephaly and, more recently, potential neurological and autoimmune complications including Guillian-Barré syndrome and acute disseminated encephalomyelitis. We describe a case of virus infection in a 25-year-old woman during the first trimester of her pregnancy, confirmed by laboratory tests only for the detection of viral particles in maternal urine, with imaging studies demonstrating the progression of cranial and encephalic changes in the fetus and later in the newborn, such as head circumference reduction, cerebral calcifications and ventriculomegaly...
January 2018: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/29557549/-x-linked-adrenoleukodystrophy-with-an-atypical-radiological-pattern
#8
A Ulate-Campos, J Petanas-Argemi, M Rebollo-Polo, C Jou, C Sierra, J Armstrong, M C Fons-Estupina
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location. CASE REPORT: We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment...
April 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29545249/localized-marked-elongation-of-the-distal-internal-carotid-artery-with-or-without-phace-syndrome-segmental-dolichoectasia-of-the-distal-internal-carotid-artery
#9
Z Y Jia, L B Zhao, D H Lee
BACKGROUND AND PURPOSE: Segmental intracranial dolichoectasia of the distal ICA is a feature of PHACE syndrome or a sporadic phenomenon. We evaluated the relationship between intracranial dolichoectasia of the distal ICA and PHACE syndrome and illustrated the characteristic radiologic findings of the lesions. MATERIALS AND METHODS: Intracranial dolichoectasia of the distal ICA was identified in 20 patients at our institution from 2005 to 2016 through a review of diagnostic cerebral angiography results...
March 15, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29534259/sonographic-diagnosis-of-meningoencephalitis-in-newborns-and-infants
#10
Karl-Heinz Deeg
Prenatal, neonatal meningoencephalitis and infections of the brain in older infants are often associated with serious complications which can be diagnosed by sonography through the open fontanelles. Most frequently postmeningitic hydrocephalus and subdural effusions occur. Rarer complications are brain abscesses and ventriculitis which are caused by gram negative bacteria such as E. coli, Serratia marcescens, Proteus and Enterobacter. A serious complication after ventriculitis is the development of compartment hydrocephalus...
March 13, 2018: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/29525246/evaluation-and-management-of-aortic-stenosis-for-the-emergency-clinician-an-evidence-based-review-of-the-literature
#11
Michael Gottlieb, Brit Long, Alex Koyfman
INTRODUCTION: Aortic stenosis is a common condition among older adults that can be associated with dangerous outcomes, due to both the disease itself and its influence on other conditions. OBJECTIVE: This review provides an evidence-based summary of the current emergency department (ED) evaluation and management of aortic stenosis. DISCUSSION: Aortic stenosis refers to significant narrowing of the aortic valve and can be caused by calcific disease, congenital causes, or rheumatic valvular disease...
March 7, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29501407/a-novel-mutation-in-sphingosine-1-phosphate-lyase-causing-congenital-brain-malformation
#12
Daniel Bamborschke, Matthias Pergande, Kerstin Becker, Friederike Körber, Jörg Dötsch, Anne Vierzig, Lutz T Weber, Sebahattin Cirak
INTRODUCTION: Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1. CASE REPORT: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons...
February 28, 2018: Brain & Development
https://www.readbyqxmd.com/read/29492131/chronic-subdural-hematoma-associated-with-fahr-syndrome-a-clinical-association-or-just-a-simple-coincidence
#13
Oktay Gurcan, Ahmet Gurhan Gurcay, Atilla Kazanci, Tuncer Goker, Oguzhan Eylen, Omer Faruk Turkoglu
The Fahr syndrome (FS) is a rare degenerative neurological disorder (its prevalence is <0.5%). FS is distinguished by the presence of abnormal bilateral intracranial calcifications with a predilection for the basal ganglia, also presented by movement disorders such as parkinsonism, paresis, and speech disorders. Chronic subdural hematoma (CSH), which is typically the result of mild head trauma, is a regularly encountered condition in elderly. A 63-year-old man has referred to our clinic from another hospital with a history of mild head trauma approximately a month ago...
January 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29482953/primary-central-nervous-system-lymphoma-in-immunocompetent-patients-spectrum-of-findings-and-differential-characteristics
#14
E Gómez Roselló, A M Quiles Granado, G Laguillo Sala, S Pedraza Gutiérrez
Primary central nervous system (CNS) lymphomas are uncommon and their management differs significantly from that of other malignant tumors involving the CNS. This article explains how the imaging findings often suggest the diagnosis early. The typical findings in immunocompetent patients consist of a supratentorial intraaxial mass that enhances homogeneously. Other findings to evaluate include multifocality and incomplete ring enhancement. The differential diagnosis of primary CNS lymphomas should consider mainly other malignant tumors of the CNS such as glioblastomas or metastases...
February 23, 2018: Radiología
https://www.readbyqxmd.com/read/29482705/melas-a-complex-and-challenging-diagnosis
#15
Kumail Khandwala, Anwar Ahmed, Taha Sheikh
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare multisystem disorder and is the most common maternally inherited mitochondrial disease. This condition has a special predilection for the nervous system and muscles. Typical findings on brain imaging include stroke-like areas, calcification of basal ganglia and brain atrophy. This accounts for the disease being, both clinically and radiologically, mistaken for ischemic stroke. The differentiation features from stroke include comparatively young age of the patients, site of the lesions, and relative overlap between the cerebral vasculature territories...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29472296/brain-injury-lesion-imaging-using-preconditioned-quantitative-susceptibility-mapping-without-skull-stripping
#16
S Soman, Z Liu, G Kim, U Nemec, S J Holdsworth, K Main, B Lee, S Kolakowsky-Hayner, M Selim, A J Furst, P Massaband, J Yesavage, M M Adamson, P Spincemallie, M Moseley, Y Wang
BACKGROUND AND PURPOSE: Identifying cerebral microhemorrhage burden can aid in the diagnosis and management of traumatic brain injury, stroke, hypertension, and cerebral amyloid angiopathy. MR imaging susceptibility-based methods are more sensitive than CT for detecting cerebral microhemorrhage, but methods other than quantitative susceptibility mapping provide results that vary with field strength and TE, require additional phase maps to distinguish blood from calcification, and depict cerebral microhemorrhages as bloom artifacts...
February 22, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29459606/clinical-and-neuro-radiological-presentation-of-tuberous-sclerosis-complex-in-tertiary-care-centre
#17
G K Kundu, S Ahmed, S Akhter, M T Islam, T Dwa, A M Sabbir
Tuberous sclerosis complex (TSC) is a common neurocutaneous disorder characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. This retrospective study was done to see the clinical presentation and neuro imaging pattern of TSC in a tertiary care centre of Bangladesh and was conducted at Pediatric Neurology Unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2013 to December 2013. Among total 10 patients male-female ratio was 3:2...
January 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29448117/refractory-focal-epilepsy-in-a-paediatric-patient-with-primary-familial-brain-calcification
#18
Juliet K Knowles, Jonathan D Santoro, Brenda E Porter, Fiona M Baumer
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
February 6, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29426978/impact-of-intracranial-artery-calcification-on-cerebral-hemodynamic-changes
#19
Xiaohong Wu, Li Wang, Jingxin Zhong, Jacky Ko, Lin Shi, Yannie Soo, Thomas Leung, Ka Sing Wong, Jill Abrigo, Xiangyan Chen
PURPOSE: Intracranial artery calcification (IAC) has been demonstrated to be correlated with ischemic stroke, cognitive decline, and other vascular events by accumulating evidences from both Western and Asian populations. The proposed study aimed to investigate its potential mechanisms by evaluating the blood flow velocity and pulsatility index (PI) of cerebral arteries. METHODS: Consecutive ischemic stroke patients admitted to the Prince of Wales Hospital were recruited after excluding those with atrial fibrillation or poor temporal window...
February 9, 2018: Neuroradiology
https://www.readbyqxmd.com/read/29408781/extradural-petromastoid-calcifying-pseudoneoplasm-of-the-neuraxis-capnon-case-report-and-literature-review
#20
Eric S Nussbaum, Chris Hilton, Archie Defillo, William McDonald, Theodore Passe, Kevin M Kallmes, Leslie A Nussbaum
BACKGROUND: Calcifying pseudoneoplasm of the neuraxis (CAPNON) is a very rare tumor with fewer than 70 cases reported in the literature. In general, this tumor occurs intracranially either within the brain parenchyma or in an extra-axial location, but it has also been described within the spine as an extra-axial lesion. CASE DESCRIPTION: We describe an unusual case of intracranial-extradural CAPNON involving the mastoid region. This may be only the second such case reported in the literature, as one patient with CAPNON has been reported involving the sinonasal region...
January 12, 2018: Clinical Neurology and Neurosurgery
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