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https://www.readbyqxmd.com/read/29923367/cerebral-venous-sinus-thrombosis
#1
REVIEW
Marco Capecchi, Maria Abbattista, Ida Martinelli
The cerebral venous system is an unusual site of thrombosis, with a particularly high incidence in young adults. This incidence has increased in past decades because of the improvement of neuroradiological techniques. Risk factors for cerebral venous sinus thrombosis overlap with those of other venous thromboembolism sites, however, some are specific for this particular anatomical district. Prognosis is favorable in most cases if diagnosis is made rapidly and treatment is promptly initiated, even if acute complications or chronic invalidity still occur in a quarter of patients...
June 19, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29921875/a-faroese-founder-variant-in-tbcd-causes-early-onset-progressive-encephalopathy-with-a-homogenous-clinical-course
#2
Sabine Grønborg, Lotte Risom, Jakob Ek, Karen Bonde Larsen, David Scheie, Yanko Petkov, Vibeke André Larsen, Morten Dunø, Fróði Joensen, Elsebet Østergaard
An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of structural microtubulin-associated proteins have been identified to cause a wide spectrum of malformations of cortical development and alterations of microtubule dynamics have been recognized to cause or contribute to progressive neurodegenerative disorders. TBCD is one of the five tubulin-specific chaperones and is required for reversible assembly of the α-/β-tubulin heterodimer...
June 19, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29916361/consensus-recommendations-of-the-multiple-sclerosis-study-group-and-portuguese-neuroradiological-society-for-the-use-of-the-magnetic-resonance-imaging-in-multiple-sclerosis-in-clinical-practice-part-1
#3
Pedro Abreu, Rui Pedrosa, Maria José Sá, João Cerqueira, Lívia Sousa, Ana Martins Da Silva, Joaquim Pinheiro, João De Sá, Sónia Batista, Rita Moiron Simões, Daniela Jardim Pereira, Pedro Vilela, José Vale
INTRODUCTION: Magnetic resonance imaging is established as a recognizable tool in the diagnosis and monitoring of multiple sclerosis patients. In the present, among multiple sclerosis centers, there are different magnetic resonance imaging sequences and protocols used to study multiple sclerosis that may hamper the optimal use of magnetic resonance imaging in multiple sclerosis. In this context, the Group of Studies of Multiple Sclerosis and the Portuguese Society of Neuroradiology, after a joint discussion, appointed a committee of experts to create recommendations adapted to the national reality on the use of magnetic resonance imaging in multiple sclerosis...
May 30, 2018: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29905431/clinical-neurophysiological-neuroradiological-discordance-in-lumbar-spine-degenerative-pathology-the-last-word-to-the-neurosurgeon
#4
Domenico Chirchiglia, Pasquale Chirchiglia, Domenico Murrone, Francesco Signorelli
No abstract text is available yet for this article.
June 14, 2018: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/29904713/data-on-multimodal-approach-for-early-poor-outcome-cerebral-performance-categories-3-5-prediction-after-cardiac-arrest
#5
Maenia Scarpino, Giovanni Lanzo, Francesco Lolli, Riccardo Carrai, Marco Moretti, Maddalena Spalletti, Morena Cozzolino, Adriano Peris, Aldo Amantini, Antonello Grippo
The data presented in this article are related to our research article entitled 'Neurophysiological and neuroradiological multimodal approach for early poor outcome prediction after cardiac arrest' (Scarpino et al., 2018) [1]. We reported two additional analyses, including results gathered from somatosensory evoked potentials(SEPs), brain computed tomography(CT) and electroencephalography(EEG) performed on 183 subjects within the first 24 h after cardiac arrest(CA). In the first analysis, we considered the Cerebral Performance Categories(CPC) 3, 4 and 5a,b (severe disability, unresponsive wakefulness state, neurological death and non-neurological death, respectively) as poor outcomes...
August 2018: Data in Brief
https://www.readbyqxmd.com/read/29904503/arachnoid-cysts-with-spontaneous-intracystic-hemorrhage-and-associated-subdural-hematoma-report-of-management-and-follow-up-of-2-cases
#6
Mehmet Emin Adin, Mehmet Sıddık Yıldız, Muhammed Akif Deniz, Ashkan H Behzadi, Daddy Mata-Mbemba
Arachnoid cysts are one of the most frequently encountered intracranial space-occupying lesions in daily neurosurgery and neuroradiology practice. Majority of arachnoid cysts, particularly those of smaller sizes, have a benign uneventful lifetime course. Certain symptoms may indicate serious complications related to underlying arachnoid cysts. Hemorrhage is one of the most fearsome complications of arachnoid cysts and almost all reported cases in the literature have undergone surgical correction. In this study, we aimed to present clinical and radiologic follow-up findings in two adult cases of intracranial arachnoid cyst with spontaneous intracystic hemorrhage and associated subdural hematoma, one of which was successfully treated conservatively...
April 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29903922/contextual-radiology-reporting-a-new-approach-to-neuroradiology-structured-templates
#7
M D Mamlouk, P C Chang, R R Saket
Structured reporting has many advantages over conventional narrative reporting and has been advocated for standard usage by radiologic societies and literature. Traditional structured reports though are often not tailored to the appropriate clinical situation, are generic, and can be overly constraining. Contextual reporting is an alternative method of structured reporting that is specifically related to the disease or examination indication. Herein, we create a library of 50 contextual structured reports for neuroradiologists and emphasize their clinical value over noncontextual structured reporting...
June 14, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29903905/idiopathic-intracranial-hypertension-consensus-guidelines-on-management
#8
REVIEW
Susan P Mollan, Brendan Davies, Nick C Silver, Simon Shaw, Conor L Mallucci, Benjamin R Wakerley, Anita Krishnan, Swarupsinh V Chavda, Satheesh Ramalingam, Julie Edwards, Krystal Hemmings, Michelle Williamson, Michael A Burdon, Ghaniah Hassan-Smith, Kathleen Digre, Grant T Liu, Rigmor Højland Jensen, Alexandra J Sinclair
The aim was to capture interdisciplinary expertise from a large group of clinicians, reflecting practice from across the UK and further, to inform subsequent development of a national consensus guidance for optimal management of idiopathic intracranial hypertension (IIH). METHODS: Between September 2015 and October 2017, a specialist interest group including neurology, neurosurgery, neuroradiology, ophthalmology, nursing, primary care doctors and patient representatives met. An initial UK survey of attitudes and practice in IIH was sent to a wide group of physicians and surgeons who investigate and manage IIH regularly...
June 14, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29903031/what-s-new-in-pontocerebellar-hypoplasia-an-update-on-genes-and-subtypes
#9
REVIEW
Tessa van Dijk, Frank Baas, Peter G Barth, Bwee Tien Poll-The
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT: In this review we describe the clinical, neuroradiological and genetic characteristics of the different PCH subtypes, summarize the differential diagnosis and reflect on potential disease mechanisms in PCH...
June 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29899769/neuro-ichthyotic-syndromes-a-case-series
#10
Faruk Incecık, Ozlem M Herguner, Mehmet N Ozbek, Serdal Gungor, Mustafa Yılmaz, Wiliam B Rizzo, Gülen G Mert
Background: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. Materials and Methods: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. Results: Eight female and seven male patients (age range 11 months-52 years) were investigated...
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29895533/characterization-of-heterozygous-htra1-mutations-in-taiwanese-patients-with-cerebral-small-vessel-disease
#11
Yi-Chung Lee, Chin-Ping Chung, Nai-Chen Chao, Jong-Ling Fuh, Feng-Chi Chang, Bing-Wing Soong, Yi-Chu Liao
BACKGROUND AND PURPOSE: Homozygous and compound heterozygous mutations in the high temperature requirement serine peptidase A1 gene ( HTRA1 ) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. However, heterozygous HTRA1 mutations were recently identified to be associated with autosomal dominant cerebral small vessel disease (SVD). The present study aims at investigating the clinical features, frequency, and spectrum of HTRA1 mutations in a Taiwanese cohort with SVD...
June 12, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29891057/x-linked-ataxias
#12
Ginevra Zanni, Enrico Bertini
X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome. The neurologic features of XLCA include hypotonia, developmental delay, intellectual disability, ataxia, and other cerebellar signs. Normal cognitive development has also been reported. Cerebellar defects may be isolated or associated with other brain malformations or extraneurologic involvement...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29890279/giant-serpentine-aneurysm-of-the-middle-cerebral-artery
#13
Jing Lan, Zheng-Yi Fu, Jian-Jian Zhang, Chao Ma, Chang-Jun Cao, Wen-Yuan Zhao, Pu-Cha Jiang, Jin-Cao Chen
BACKGROUND: Giant serpentine aneurysms (GSAs) were considered to be a subgroup of gaint intracranial aneurysm,distinct from saccular and fusiform varieties, which were defined as partially thrombosed giant aneurysm with tortuous internal vascular channel. The clinicopathological characteristics of giant serpentine middle cerebral artery aneurysm have been rarely reported in the literature and were discussed only radiologically. In this review we attempt to clarify patient clinical and neuroradiological features and to discuss the mechanism of formation and progression...
June 8, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29883828/safety-of-dynamic-mri-of-the-cervical-spine-in-children-performed-without-neurosurgical-supervision
#14
Derek Yecies, Nathaniel Fogel, Michael Edwards, Gerald Grant, Kristen W Yeom, Samuel Cheshier
OBJECT: The need for neurosurgical supervision as well as the general safety and utility of dynamic MRI of the cervical spine in children remains controversial. We present the largest descriptive cohort study of cervical flexion-extension MRIs in a pediatric population to help elucidate the safety and utility of this technique. METHODS: All cervical spine MRIs performed at Lucile Packard Children's Hospital at Stanford from 2009-2015 were retrospectively reviewed...
June 5, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29878067/de-novo-mutation-screening-in-childhood-onset-cerebellar-atrophy-identifies-gain-of-function-mutations-in-the-cacna1g-calcium-channel-gene
#15
Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bole-Feysot, Cécile Fourage, Patrick Nitschké, Julien Thevenon, Marlène Rio, Pierre Blanc, Céline Vidal, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Stanislas Lyonnet, Nathalie Boddaert, Emily Fassi, Marwan Shinawi, Holly Zimmerman, Jeanne Amiel, Laurence Faivre, Laurence Colleaux, Philippe Lory, Vincent Cantagrel
Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically described as mostly autosomal recessive conditions and the exact contribution of de novo mutations to this phenotype has not been assessed. In contrast, recent studies pinpoint the high prevalence of pathogenic de novo mutations in other developmental disorders such as intellectual disability, autism spectrum disorders and epilepsy...
June 5, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29876678/non-operative-meningiomas-long-term-follow-up-of-136-patients
#16
Rossana Romani, George Ryan, Christian Benner, Jonathan Pollock
BACKGROUND: Improving access to neuroradiology investigations has led to an increased rate of diagnosis of incidental meningiomas. METHOD: A cohort of 136 incidental meningioma patients collected by a single neurosurgeon in a single neurosurgical centre is retrospectively analysed between 2002 and 2016. Demographic data, imaging and clinical features are presented. The radiological factors associated with meningiomas progression are also presented. RESULTS: The mean age at diagnosis was 65 (range, 33-94) years...
June 6, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29863540/hemodynamic-management-of-patients-during-endovascular-treatment-of-acute-ischemic-stroke-under-conscious-sedation-a-retrospective-cohort-study
#17
Gabriela Alcaraz, Jason Chui, Joanna Schaafsma, Pirjo Manninen, Andreu Porta-Sánchez, Vitor Mendes Pereira, Lashmi Venkatraghavan
BACKGROUND: Anesthetic modality and hemodynamic management during mechanical thrombectomy (MT) for acute ischemic stroke (AIS) are potential contributors to the success of revascularization. The aims of our study were to review the hemodynamic management by anesthesiologists and clinical outcomes in patients undergoing MT under conscious sedation. METHODS: Retrospective cohort study of patients with anterior circulation AIS from January 2012 to March 2016. Primary outcome was hemodynamic intervention, defined as administration of vasoactive drugs to maintain systolic blood pressure (BP) between 140 and 180 mm Hg...
May 31, 2018: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/29860634/unilateral-or-bilateral-punctate-hippocampal-hyperintensities-on-dw-mri-seizures-amnesia-or-both
#18
Jone Bocos-Portillo, Inés Escalza-Cortina, Marian Gómez-Beldarrain, Aida Rodriguez-Sainz, Juan Carlos Garcia-Monco
The presence of small hippocampal hyperintense lesions on diffusion-weighted (DW) MRI can respond to different etiologies and represents a challenge where clinical judgment is imperative, since therapeutic approach may be quite different.We here report three patients with similar neuroradiological findings, i.e., hyperintense punctate hippocampal lesions on diffusion-weighted MRI sequences, yet of different origin. The first one presented with isolated amnesia (transient global amnesia), the second one with amnesia and seizures, and the third one with seizures...
June 2, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29846907/clinical-applications-of-diffusion-weighted-imaging-in-neuroradiology
#19
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...
May 30, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29843624/dyke-davidoff-masson-syndrome-a-case-report
#20
Anna Misyail Abdul Rashid, Mohamad Syafeeq Faeez Md Noh
BACKGROUND: Dyke-Davidoff-Masson syndrome is a rare condition of unknown frequency resulting from brain injury due to a multitude of causes; especially in early life. Characteristics include cerebral hemiatrophy/hypoplasia, contralateral hemiparesis, seizures, and compensatory osseous hypertrophy. CASE PRESENTATION: We present a case of a 13-year-old girl who initially presented with headaches, followed by episodic complex-partial seizures; which was controlled via medication...
May 29, 2018: BMC Neurology
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