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https://www.readbyqxmd.com/read/30311053/the-role-of-clinical-and-neuroimaging-features-in-the-diagnosis-of-cadasil
#1
Anna Bersano, Gloria Bedini, Hugh Stephen Markus, Paolo Vitali, Enrico Colli-Tibaldi, Franco Taroni, Cinzia Gellera, Silvia Baratta, Lorena Mosca, Paola Carrera, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Silvia Lanfranconi, Franca Mazucchelli, Davide Zarcone, Maria Luisa De Lodovici, Giorgio Bono, Giorgio Battista Boncoraglio, Eugenio Agostino Parati, Maria Vittoria Calloni, Patrizia Perrone, Bianca Maria Bordo, Cristina Motto, Elio Agostoni, Alessandro Pezzini, Alessandro Padovani, Giuseppe Micieli, Anna Cavallini, Graziella Molini, Francesco Sasanelli, Maria Sessa, Giancarlo Comi, Nicoletta Checcarelli, Massimo Carmerlingo, Manuel Corato, Simona Marcheselli, Laura Fusi, Giampiero Grampa, Davide Uccellini, Simone Beretta, Carlo Ferrarese, Barbara Incorvaia, Carlo Sebastiano Tadeo, Laura Adobbati, Vincenzo Silani, Giuseppe Faragò, Nadia Trobia, Caspar Grond-Ginsbach, Livia Candelise
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. METHODS: Patients with lacunar stroke or TIA were included in the present study...
October 11, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29948264/otogenic-lateral-sinus-thrombosis-in-children-proposal-of-an-experience-based-treatment-flowchart
#2
Alessandro Scorpecci, Michela Massoud, Sara Giannantonio, Paola Zangari, Daniela Lucidi, Francesco Martines, Silvia Foligno, Giovina Di Felice, Antonio Minozzi, Matteo Luciani, Pasquale Marsella
PURPOSE: To describe the prevalent clinical, laboratory, and radiological features of otogenic lateral sinus thrombosis (OLST) in children; to identify clinical predictors of outcome; to propose a management algorithm derived from experience. METHODS: A retrospective review was conducted of the clinical records of patients with OLST, treated in a single tertiary care referral center for pediatric disease from 2006 to 2017. The inclusion criteria were pediatric age (0-16 years) and OLST diagnosis confirmed by a pre- and post-contrast CT or venography-MRI scan...
August 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29846907/clinical-applications-of-diffusion-weighted-imaging-in-neuroradiology
#3
REVIEW
Marta Drake-Pérez, Jose Boto, Aikaterini Fitsiori, Karl Lovblad, Maria Isabel Vargas
Diffusion-weighted imaging (DWI) has revolutionised stroke imaging since its introduction in the mid-1980s, and it has also become a pillar of current neuroimaging. Diffusion abnormalities represent alterations in the random movement of water molecules in tissues, revealing their microarchitecture, and occur in many neurological conditions. DWI provides useful information, increasing the sensitivity of MRI as a diagnostic tool, narrowing the differential diagnosis, providing prognostic information, aiding in treatment planning and evaluating response to treatment...
August 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29797626/embryonal-tumor-with-multilayered-rosettes-c19mc-altered-clinical-pathological-and-neuroimaging-findings
#4
Bing Wang, Bhanu Gogia, Gregory N Fuller, Leena M Ketonen
BACKGROUND AND PURPOSE: Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, is a recently described, rare central nervous system tumor. To our knowledge, the imaging findings of this tumor have not been systematically evaluated in the neuroradiology literature. We present here the clinical, radiological, and pathological correlation of a case series of this very rare tumor, including the full range of anatomic compartment presentations (supratentorial, infratentorial, and spinal)...
September 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29627018/bilateral-wallerian-degeneration-of-the-middle-cerebellar-peduncles-secondary-to-pontine-infarction-a-case-series
#5
Yaoyao Shen, Wen Jian, Juan Li, Tingmin Dai, Bing Bao, Hongbing Nie
OBJECTIVE: Wallerian degeneration (WD) of middle cerebellar peduncles (MCPs) secondary to pontine infarction is rarely reported in the literature. Our aim in this study is to characterize its clinical and neuroradiological features. METHODS: A retrospective review of 7 patients from a single institution was conducted. Only patients with pontine infarction and subsequent degeneration of the MCPs were included in the analysis. The features of clinical presentation and neuroimaging finding were summarized by our experienced neurologists...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29581021/magnetic-resonance-imaging-characteristics-of-pituitary-abscess-a-review-of-51-cases
#6
Zihao Wang, Lu Gao, Xiaoyu Zhou, Xiaopeng Guo, Qiang Wang, Wei Lian, Renzhi Wang, Bing Xing
OBJECTIVE: To investigate pituitary abscess (PA) magnetic resonance imaging (MRI) features to improve the neuroradiologic and diagnostic knowledge of this rare disease and guide follow-up treatments. METHODS: Clinical data were collected for 51 patients with PA, and MRI data were quantitatively reviewed in a retrospective analysis. Clinical factors were analyzed to investigate their relevance. RESULTS: PA neuroimaging showed special radiologic features, including hypointensity or isointensity on T1-weighted imaging (30 patients, 58...
June 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29517068/neuroradiologic-manifestations-of-erdheim-chester-disease
#7
Natalie E Parks, Gaurav Goyal, Ronald S Go, Jay Mandrekar, W Oliver Tobin
Background: We describe the neuroradiologic features of a cohort of patients with Erdheim-Chester disease. Methods: We assessed patients at Mayo Clinic Rochester between January 1, 1990, and July 31, 2016, with pathologically confirmed Erdheim-Chester disease (n = 53). Results: Neuroimaging, including head CT (n = 17), brain MRI (n = 39), orbital MRI (n = 15), and spine MRI (n = 16), was available for 42 participants. Median age at diagnosis was 55 years (interquartile range 46-66) with higher male prevalence (33:20)...
February 2018: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29205628/clinical-neuroimaging-using-7-t-mri-challenges-and-prospects
#8
REVIEW
Maria Isabel Vargas, Pascal Martelli, Lijing Xin, Ozlem Ipek, Frederic Grouiller, Francesca Pittau, Robert Trampel, Rolf Gruetter, Serge Vulliemoz, Francois Lazeyras
The aim of this article is to illustrate the principal challenges, from the medical and technical point of view, associated with the use of ultrahigh field (UHF) scanners in the clinical setting and to present available solutions to circumvent these limitations. We would like to show the differences between UHF scanners and those used routinely in clinical practice, the principal advantages, and disadvantages, the different UHFs that are ready be applied to routine clinical practice such as susceptibility-weighted imaging, fluid-attenuated inversion recovery, 3-dimensional time of flight, magnetization-prepared rapid acquisition gradient echo, magnetization-prepared 2 rapid acquisition gradient echo, and diffusion-weighted imaging, the technical principles of these sequences, and the particularities of advanced techniques such as diffusion tensor imaging, spectroscopy, and functional imaging at 7TMR...
January 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29046467/-clinical-characteristics-of-craniocervical-junction-arteriovenous-fistulas
#9
Michio Nakamura, Tadashi Miyazaki, Natsuki Shinozaki, Masaki Izumi, Takashi Itabashi
OBJECTIVE: Craniocervical junction arteriovenous fistulas(CCJ-AVFs)are extremely rare lesions that may result in both subarachnoid hemorrhage(SAH)and myelopathy. Diagnosis of CCJ-AVF is difficult and may be delayed due to variable clinical features and a spectrum of neuroradiological findings. To elucidate the clinical characteristics of CCJ-AVF, we analyzed the clinical symptoms, neuroimaging findings, and the results of surgical treatment in five patients. RESULTS: Among the five patients, four were diagnosed with dural AVFs, and the remaining patient was diagnosed with radicular AVF...
October 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#10
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28762364/brain-and-spine-imaging-artefacts-on-low-field-magnetic-resonance-imaging-spectrum-of-findings-in-a-nigerian-tertiary-hospital
#11
Godwin Ogbole, Joseph Odo, Richard Efidi, Richard Olatunji, Ayotunde Ogunseyinde
BACKGROUND: Low-field (LF) magnetic resonance imaging (MRI) is a technology that is widely used in resource-limited settings for clinical imaging. The images produced, even though of low resolution with noise and artefacts, provide valuable information and guidance for patient assessment and treatment. This study shows a spectrum of MRI artefacts that affect image quality during routine clinical neuroradiology practice using LF MRI in a Nigerian hospital and suggests ways to avoid them...
April 2017: Nigerian Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28587881/accidental-duplication-mr-imaging-findings-in-children-with-spasmus-nutans
#12
Meredith Bowen, Jason Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.jaapos.2017.03.001. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
June 3, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28284856/magnetic-resonance-imaging-findings-in-children-with-spasmus-nutans
#13
Meredith Bowen, Jason H Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
BACKGROUND: Spasmus nutans (SN) is a rare pediatric ophthalmologic syndrome characterized by nystagmus, head bobbing, and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be <2%, but these studies only intermittently used neuroimaging with computed tomography, which has limited sensitivity for detection of small lesions in the optic pathway...
April 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27610341/spectrum-of-intracranial-incidental-findings-on-pediatric-brain-magnetic-resonance-imaging-what-clinician-should-know
#14
REVIEW
Surya N Gupta, Vikash S Gupta, Andrew C White
Intracranial incidental findings on magnetic resonance imaging (MRI) of the brain continue to generate interest in healthy control, research, and clinical subjects. However, in clinical practice, the discovery of incidental findings acts as a "distractor". This review is based on existing heterogeneous reports, their clinical implications, and how the results of incidental findings influence clinical management. This draws attention to the followings: (1) the prevalence of clinically significant incidental findings is low; (2) there is a lack of a systematic approach to classification; and discusses (3) how to deal with the detected incidental findings based a proposed common clinical profile...
August 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27571996/lethal-neonatal-ltbl-associated-with-biallelic-ears2-variants-case-report-and-review-of-the-reported-neuroradiological-features
#15
Renata Oliveira, Ewen W Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F Chinnery, Luísa Diogo, Paula Garcia, Robert W Taylor
Mitochondrial translation defects are important causes of early onset mitochondrial disease. Although the biochemical (combined respiratory chain deficiency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and progressive hyperlactacidaemia with lactic acidosis, liver dysfunction and encephalopathy and died at the age of 5 months...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27504340/clinical-and-neuroradiological-spectrum-of-metronidazole-induced-encephalopathy-our-experience-and-the-review-of-literature
#16
REVIEW
Ujjawal Roy, Ajay Panwar, Alak Pandit, Susanta Kumar Das, Bhushan Joshi
Metronidazole is an antimicrobial agent mainly used in the treatment of several protozoal and anaerobic infections, additionally, is often used in hepatic encephalopathy and Crohn disease. Apart from peripheral neuropathy, metronidazole can also cause symptoms of central nervous system dysfunction like ataxic gait, dysarthria, seizures, and encephalopathy which may result from both short term and chronic use of this drug and is collectively termed as "metronidazole induced encephalopathy"(MIE). Neuroimaging forms the backbone in clinching the diagnosis of this uncommon entity, especially in cases where there is high index of suspicion of intoxication...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27469307/diffusion-weighted-mri-abnormalities-in-an-outbreak-of-streptococcus-agalactiae-serotype-iii-multilocus-sequence-type-283-meningitis
#17
Kevin Tan, Limin Wijaya, Hui-Jin Chiew, Yih-Yian Sitoh, Humaira Shafi, Robert C Chen, Chin Kong Goh, C C Tchoyoson Lim
PURPOSE: In 2015, an outbreak of group B streptococcal (GBS) infection caused by Streptococcus agalactiae Serotype III, multilocus sequence type 283, related to consuming infected raw freshwater fish, affected more than 200 patients in Singapore. We describe the clinical, laboratory, and neuroimaging features of a subgroup of adults with central nervous system (CNS) infections caused by GBS. MATERIALS AND METHODS: The database of the Singapore Neurologic Infections Program (SNIP), a national multicenter study for surveillance of infectious neurologic disease, was reviewed to select patients with GBS CNS infection during the outbreak...
February 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/27458589/canine-butterfly-glioblastomas-a-neuroradiological-review
#18
John H Rossmeisl, Kemba Clapp, Theresa E Pancotto, Samantha Emch, John L Robertson, Waldemar Debinski
In humans, high-grade gliomas may infiltrate across the corpus callosum resulting in bihemispheric lesions that may have symmetrical, winged-like appearances. This particular tumor manifestation has been coined a "butterfly" glioma (BG). While canine and human gliomas share many neuroradiological and pathological features, the BG morphology has not been previously reported in dogs. Here, we describe the magnetic resonance imaging (MRI) characteristics of BG in three dogs and review the potential differential diagnoses based on neuroimaging findings...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/27423594/focal-status-epilepticus-as-a-manifestation-of-idiopathic-hypertrophic-cranial-pachymeningitis
#19
Irene Navalpotro-Gómez, Rosa María Vivanco-Hidalgo, Elisa Cuadrado-Godia, Santiago Medrano-Martorell, Francisco Alameda-Quitllet, Gloria Villalba-Martínez, Jaume Roquer
BACKGROUND: Idiopathic hypertrophic cranial pachymeningitis (IHCP) is an uncommon disease of unknown etiology characterized by thickening of the cerebral dura mater with possible associated inflammation. The most frequently described clinical symptoms include headache, cranial nerve palsy, and cerebellar dysfunction. Epilepsy and/or status epilepticus as main presentation is very uncommon. CASE PRESENTATION: Two consecutive cases are presented of patients manifesting focal status epilepticus secondary to IHCP, with clinical, laboratory [blood test and cerebrospinal fluid (CSF) analysis], neuroradiologic [magnetic resonance imaging (MRI) at 3 Tesla and digital subtraction angiography (DSA)], and therapeutic data...
August 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/26713028/clinical-and-neuroradiological-approach-to-fucosidosis-in-a-child-with-atypical-presentation
#20
Tanyel Zubarioglu, Ertugrul Kiykim, Cigdem Aktuglu Zeybek, Mehmet Serif Cansever, Gulcin Benbir, Ahmet Aydin, Cengiz Yalcinkaya
UNLABELLED: Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas...
October 2015: Annals of Indian Academy of Neurology
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