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https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#1
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28736348/pathological-progression-possible-origin-and-management-of-multiple-primary-intracranial-neuroendocrine-carcinomas-a-case-report
#2
Jingwei Cao, Wenzhe Xu, Zhenhui Du, Bin Sun, Feng Li, Yuguang Liu
BACKGROUND: Primary intracranial neuroendocrine carcinomas (NECs) are extremely rare malignant tumors with no previous reports of multiple ones in the literatures. CASE DESCRIPTION: The clinical presentation, preoperative and reexamined magnetic resonance imaging (MRI) findings, as well as the histopathological studies of a 56-year-old female subject with multiple intracranial NECs mimicking multiple intracranial meningiomas, who underwent three operations with left parietal craniotomy, right occipital parietal craniotomy, and left frontal craniotomy, separately and chronologically are presented in this article...
July 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28733853/cerebral-magnetic-resonance-findings-during-enzyme-replacement-therapy-in-mucopolysaccharidosis
#3
Yoshiko Matsubara, Osamu Miyazaki, Motomichi Kosuga, Torayuki Okuyama, Shunsuke Nosaka
BACKGROUND: Although enzyme replacement therapy (ERT) is an effective treatment for mucopolysaccharidosis (MPS) types I, II, IVA and VI, its effectiveness in children with central nervous system (CNS) disorders is said to be poor because the blood-brain barrier cannot be penetrated by ERT drugs. OBJECTIVE: To assess CNS involvement in mucopolysaccharidosis at the start of enzyme replacement therapy and to investigate the time course of ERT in the central nervous system...
July 21, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28731381/reperfusion-after-ischemic-stroke-is-associated-with-reduced-brain-edema
#4
Hannah J Irvine, Ann-Christin Ostwaldt, Matthew B Bevers, Simone Dixon, Thomas Wk Battey, Bruce Cv Campbell, Stephen M Davis, Geoffrey A Donnan, Kevin N Sheth, Reza Jahan, Jeffrey L Saver, Chelsea S Kidwell, W Taylor Kimberly
Rapid revascularization is highly effective for acute stroke, but animal studies suggest that reperfusion edema may attenuate its beneficial effects. We investigated the relationship between reperfusion and edema in patients from the Echoplanar Imaging Thrombolysis Evaluation Trial (EPITHET) and Mechanical Retrieval and Recanalization of Stroke Clots Using Embolectomy (MR RESCUE) cohorts. Reperfusion percentage was measured as the difference in perfusion-weighted imaging lesion volume between baseline and follow-up (day 3-5 for EPITHET; day 6-8 for MR RESCUE)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28726789/predominant-area-of-brain-lesions-in-neonates-with-herpes-simplex-encephalitis
#5
H Kidokoro, L S de Vries, C Ogawa, Y Ito, A Ohno, F Groenendaal, S Saitoh, A Okumura, Y Ito, J Natsume
OBJECTIVE: Nonspecific manifestations and a varied distribution of brain lesions can delay the diagnosis of herpes simplex encephalitis (HSE) in neonates. The aim of this study was to report predominant brain lesions in neonatal HSE, and then to investigate the association between pattern of predominant brain lesions, clinical variables and neurodevelopmental outcome. STUDY DESIGN: A multicenter retrospective study was performed in neonates diagnosed with HSE between 2009 and 2014...
July 20, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28725661/assessment-of-stereotactic-radiosurgery-treatment-response-for-brain-metastases-using-mri-based-diffusion-index
#6
Zengai Chen, Jinyan Zu, Lei Li, Xiaojie Lu, Jianming Ni, Jianrong Xu
INTRODUCTION: To investigate the clinical predictive values of the apparent diffusion coefficient (ADC) as a biomarker in radiation response of brain metastases. METHOD: Forty-one patients with brain metastases treated with stereotactic radiosurgery (SRS) were imaged at baseline, one month post SRS, and six months post SRS using diffusion weighted MRI. The mean of ADC for metastases and tumor volume was calculated. A diffusion index (DI) was generated using the sum of 1/ADC among all the voxels in a tumor...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28725554/successful-surgical-management-of-new-onset-refractory-status-epilepticus-norse-presenting-with-gelastic-seizures-in-a-3%C3%A2-year-old-girl
#7
Ahmad Marashly, Sean Lew, Jennifer Koop
Gelastic seizures (GS) are typically associated with hypothalamic hamartomas and present during childhood. However it is now known that GS can be found in focal epilepsies arising from other regions in the brain, including mesial and neocortical frontal, temporal and parietal regions. GS have rarely been described as the presenting manifestation of New Onset Refractory Status Epilepticus (NORSE). In this article we describe a previously healthy 3-year-old who presented with an explosive onset of GS that were refractory to multiple anti-seizure medications...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28724595/hypertensive-encephalopathy-mimicking-cerebral-vasculitis-with-pontine-oedema-cerebellar-white-matter-lesions-and-multiple-cerebral-infarctions
#8
Daniela Ceccarelli, David Hargroves, Ibrahim Balogun, Thomas Webb
A 47-year-old man with poorly controlled hypertension presented with headaches, right-sided weakness and dysarthria. CT and MRI scans of the brain showed widespread abnormalities including significant pontine oedema, basal ganglia and corona radiata infarctions and cerebellar white matter high signal. Imaging of the intracerebral vasculature also demonstrated wall irregularities. Initially a central nervous system inflammatory disorder was thought to be the most likely diagnosis, possibly acute demyelinating encephalomyelitis or cerebral vasculitis, and the patient was treated with high-dose intravenous steroids...
July 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28724581/mri-evidence-of-acute-inflammation-in-leukocortical-lesions-of-patients-with-early-multiple-sclerosis
#9
Josefina Maranzano, David A Rudko, Kunio Nakamura, Stuart Cook, Diego Cadavid, Leo Wolansky, Douglas L Arnold, Sridar Narayanan
OBJECTIVE: To identify gadolinium-enhancing lesions affecting the cortex of patients with early multiple sclerosis (MS) and to describe the frequency and evolution of these lesions. METHODS: We performed a retrospective, observational, longitudinal analysis of MRI scans collected as part of the Betaseron vs Copaxone in Multiple Sclerosis with Triple-Dose Gadolinium and 3T MRI Endpoints (BECOME) study. Seventy-five patients with early-stage MS were scanned monthly, over a period of 12-24 months, using 3T MRI after administration of triple-dose gadolinium...
July 19, 2017: Neurology
https://www.readbyqxmd.com/read/28723344/social-cognition-impairments-after-aneurysmal-subarachnoid-haemorrhage-associations-with-deficits-in-interpersonal-behaviour-apathy-and-impaired-self-awareness
#10
Anne M Buunk, Jacoba M Spikman, Wencke S Veenstra, Peter Jan van Laar, Jan D M Metzemaekers, J Marc C van Dijk, Linda C Meiners, Rob J M Groen
Behavioural disturbances are frequently found after aneurysmal subarachnoid haemorrhage (aSAH). Social cognition impairments have been suggested as a possible underlying mechanism for behavioural problems. Also, aSAH is likely to result in damage affecting frontal-subcortical circuits underlying social cognition. Therefore, we aimed to investigate social cognition after aSAH and its associations with behavioural problems (deficits in interpersonal behaviour, apathy, and impaired self-awareness) and focal as well as diffuse brain damage...
July 16, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28723274/identifying-voxels-at-risk-for-progression-in-glioblastoma-based-on-dosimetry-physiologic-and-metabolic-mri
#11
Mekhail Anwar, Annette M Molinaro, Olivier Morin, Susan M Chang, Daphne A Haas-Kogan, Sarah J Nelson, Janine M Lupo
Despite the longstanding role of radiation in cancer treatment and the presence of advanced, high-resolution imaging techniques, delineation of voxels at-risk for progression remains purely a geometric expansion of anatomic images, missing subclinical disease at risk for recurrence while treating potentially uninvolved tissue and increasing toxicity. This remains despite the modern ability to precisely shape radiation fields. A striking example of this is the treatment of glioblastoma, a highly infiltrative tumor that may benefit from accurate identification of subclinical disease...
July 19, 2017: Radiation Research
https://www.readbyqxmd.com/read/28721597/neuroendoscopic-management-of-posterior-third-ventricle-ependymoma-with-intraaqueductal-and-fourth-ventricle-extension-a-case-report-and-review-of-the-literature
#12
Ricardo Prat-Acín, Rocío Evangelista, Rebeca Conde, Angel Ayuso-Sacido, Inma Galeano
INTRODUCTION: Posterior third ventricle ependymomas with intraaqueductal extension are relatively infrequent lesions. Its surgical management represents a formidable technical challenge and includes a wide variety of approaches. Minimally invasive surgery including the endoscopic management can play a crucial role to obtain an optimal clinical outcome. PATIENTS AND METHODS: We report the clinical outcome of an 11-year-old female patient with a 6-year history of recurrent episodes of headache and vomiting...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28720215/autoimmune-meningitis-and-encephalitis-in-adult-onset-still-disease-case-report
#13
Bożek Milena, Konopko Magdalena, Wierzba-Bobrowicz Teresa, Witkowski Grzegorz, Makowicz Grzegorz, Sienkiewicz-Jarosz Halina
INTRODUCTION: Adult-onset Still disease (AOSD) is a rare systemic inflammatory disease of unknown cause. Its symptoms usually include persistent fever, fugitive salmon-colored rash, arthritis, sore throat (not specific), but it may also lead to internal organs' involvement, which presents with enlargement of the liver and spleen, swollen lymph nodes, carditis or pleuritis - potentially life-threatening complications. In rare cases, AOSD can cause aseptic meningitis or/and encephalitis...
July 8, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28718234/paediatrics-brain-imaging-in-epilepsy-common-presenting-symptoms-and-spectrum-of-abnormalities-detected-on-mri
#14
Azmat Ali, Faiza Akram, Ghayyur Khan, Shaukat Hussain
BACKGROUND: Epilepsy, a common neurological disorder can present at any age and has a number of aetiologies with underlying brain disease being the most common aetiology. Brain imaging becomes important and mandatory in the work up for epilepsy in localization and lateralization of the seizure focus. METHODS: This cross-sectional study was conducted in the department of Radiology Ayub Medical Teaching Institution Abbottabad from 1st March 2015 to 31st March 2016...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#15
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716371/detection-risk-factors-and-functional-consequences-of-cerebral-microinfarcts
#16
REVIEW
Susanne J van Veluw, Andy Y Shih, Eric E Smith, Christopher Chen, Julie A Schneider, Joanna M Wardlaw, Steven M Greenberg, Geert Jan Biessels
Cerebral microinfarcts are small lesions that are presumed to be ischaemic. Despite the small size of these lesions, affected individuals can have hundreds to thousands of cerebral microinfarcts, which cause measurable disruption to structural brain connections, and are associated with dementia that is independent of Alzheimer's disease pathology or larger infarcts (ie, lacunar infarcts, and large cortical and non-lacunar subcortical infarcts). Substantial progress has been made with regard to understanding risk factors and functional consequences of cerebral microinfarcts, partly driven by new in-vivo detection methods and the development of animal models that closely mimic multiple aspects of cerebral microinfarcts in human beings...
July 14, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28716287/kidney-dysfunction-and-silent-brain-infarction-in-generally-healthy-adults
#17
Sang Hyuck Kim, Dong Wook Shin, Jae Moon Yun, Ji Eun Lee, Jae-Sung Lim, Be Long Cho, Hyung-Min Kwon, Jin-Ho Park
BACKGROUND: The association between silent brain infarction (SBI) and estimated glomerular filtration rate (eGFR)-based kidney dysfunction has not yet been definitively confirmed. This study aimed to investigate the association in generally healthy adults without a previous history of stroke or overt kidney disease. METHODS: The data from the screening health check-up program in the Seoul National University Hospital Health Promotion Center from January 1, 2009 to December 31, 2013 were used...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28716286/neurosarcoidosis-according-to-zajicek-and-scolding-criteria-15-probable-and-definite-cases-their-treatment-and-outcomes
#18
Gonçalo Cação, Ana Branco, Mariana Meireles, José Eduardo Alves, Andrea Mateus, Ana Martins Silva, Ernestina Santos
INTRODUCTION: Neurosarcoidosis occurs in about 5% to 15% of patients with sarcoidosis. The purpose of this study was to identify and characterize a cohort of neurosarcoidosis patients and to review the largest previously reported neurosarcoidosis case series. METHODS: This retrospective study enrolled all patients with the diagnosis of probable or definitive neurosarcoidosis according to Zajicek and Scolding criteria, followed at the neurology department of a tertiary center in Portugal from January 1989 to December 2015...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28711407/severe-neuroimaging-anomalies-are-usually-associated-with-random-x-inactivation-in-leucocytes-circulating-dna-in-x-linked-dominant-incontinentia-pigmenti
#19
Volodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, Elodie Bal, Isabelle Desguerre, Manoelle Kossorotoff, Isabelle An, Asma Smahi, Christine Bodemer, Arnold Munnich, Julie Steffann, Nathalie Boddaert
Incontinentia Pigmenti (IP) is a skin disorder with neurological impairment in 30% of cases. The most common disease causing mutation is a deletion of exons 4-10 of the IKBKG gene, located on chromosome Xq28, with skewed X-chromosome inactivation in females, but few cases of random X-inactivation have been reported. We have correlated brain anomalies with X-chromosome inactivation status determined on leucocytes circulating DNA. We reviewed MRI of 18 girls with genetically proven IP. We found three patterns of MRI, normal MRI (n=5), mild white matter abnormalities with cortical and corpus callosum atrophy (n=6), and severe cortical abnormalities suggesting a vascular disease (n=7)...
July 10, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28711290/biopsies-of-pediatric-brainstem-lesions-display-low-morbidity-but-strong-impact-on-further-treatment-decisions
#20
Johanna Quick-Weller, Stephanie Tritt, Bedjan Behmanesh, Michel Mittelbronn, Andrea Spyrantis, Nazife Dinc, Lutz Weise, Volker Seifert, Gerhard Marquardt, Thomas M Freiman
OBJECTIVE: The course of malignant brain stem gliomas in childhood is rarely positive. Because of limited therapeutic options and potentially hazardous biopsies oncologist often relay on MRI diagnoses only for further therapy decisions. In this study we show that brain stem biopsies display a low morbidity rate and neuropathological assessment has a considerable impact on further treatment decision. METHODS: Within 18-months five children with brainstem symptoms and the radiological diagnosis of a malignant brainstem glioma, were identified...
July 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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