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https://www.readbyqxmd.com/read/29109381/epileptogenic-brain-malformations-and-mutations-in-tubulin-genes-a-case-report-and-review-of-the-literature
#1
Annalisa Mencarelli, Paolo Prontera, Gabriela Stangoni, Elisabetta Mencaroni, Nicola Principi, Susanna Esposito
Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Neurological disorders caused by abnormal neuronal migration have been observed to occur with mutations in tubulin genes. The α- and β-tubulin genes encode cytoskeletal proteins, which play a role in the developing brain. TUBA1A mutations are associated with a wide spectrum of neurological problems, which are characterized by peculiar clinical details and neuroradiologic patterns. This manuscript describes the case of a nine-year-old girl with microcephaly, mild facial dysmorphisms, epileptic seizures, and severe developmental delay, with a de novo heterozygous c...
October 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29084038/brain-magnetic-resonance-imaging-findings-in-pediatric-patients-post-extracorporeal-membrane-oxygenation
#2
Venessa L Pinto, Sumit Pruthi, Ashly C Westrick, Chevis N Shannon, Brian C Bridges, Truc M Le
Neurologic complications can occur with extracorporeal membrane oxygenation (ECMO) due to several factors. Prior studies identified neonates as having unique risk factors and neuroimaging findings post ECMO. The aim of this study is to describe brain magnetic resonance imaging findings of pediatric patients treated with ECMO. We conducted a retrospective study of nonneonatal pediatric patients who underwent a comprehensive brain magnetic resonance imaging after ECMO between January 2000 and July 2015. We identified 47 pediatric patients in the study cohort with a median age of 8 months (interquartile range 3-170 months) and a median ECMO run duration of 7...
November 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/29050399/diagnostic-criteria-for-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-clippers
#3
W Oliver Tobin, Yong Guo, Karl N Krecke, Joseph E Parisi, Claudia F Lucchinetti, Sean J Pittock, Jay Mandrekar, Divyanshu Dubey, Jan Debruyne, B Mark Keegan
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory syndrome predominantly affecting the brainstem, cerebellum, and spinal cord. Following its initial description, the salient features of CLIPPERS have been confirmed and expanded upon, but the lack of formalized diagnostic criteria has led to reports of patients with dissimilar features purported to have CLIPPERS. We evaluated clinical, radiological and pathological features of patients referred for suspected CLIPPERS and propose diagnostic criteria to discriminate CLIPPERS from non-CLIPPERS aetiologies...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29046467/-clinical-characteristics-of-craniocervical-junction-arteriovenous-fistulas
#4
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/29039692/imaging-spectrum-of-immunomodulating-chemotherapeutic-and-radiation-therapy-related-intracranial-effects
#5
Christie M Lincoln, Peter Fata, Susan Sotardi, Michael Pohlen, Tomas Uribe, Jacqueline A Bello
OBJECTIVE: A wide range of treatment-related side effects result in specific neurologic symptoms and signs and neuroimaging features. Even to the most seasoned neuroradiologist, elucidating therapy-related side effects from other common mimics can be challenging. We provide a pictorial survey of some common and uncommon medication-induced and therapy-related neuroimaging manifestations, discuss pathophysiology and common pitfalls in imaging and diagnosis. METHODS: A case-based review is utilized to depict scenarios on a routine basis in a general radiology or neuroradiology practice such as medication-induced posterior reversible encephalopathy syndrome to the more challenging cases of pseudoprogression and pseudoregression in temozolmide and bevacizumab therapy in gliobastoma treatment protocols...
November 3, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28987190/clinical-neuropathology-of-brain-tumors
#6
Michal Bienkowski, Julia Furtner, Johannes A Hainfellner
Brain tumor typing is a major task in the daily practice of clinical neuropathologists. For more than 100 years, brain tumors have been classified on the basis of a histogenetic concept, with the definition of more than 120 brain tumor entities over time. In the past decades, biomedical research on brain tumors has led to the identification of clinically meaningful diagnostic, prognostic, and predictive molecular markers. Taking this progress into account, the 2016 update of the World Health Organization classification of tumors of the central nervous system has incorporated for the first time molecular markers for definition of brain tumor entities...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28883869/ataxia-in-childhood-epidemiological-clinical-and-neuroradiologic-features-and-the-risk-of-recurrence
#7
REVIEW
Mohsen Javadzadeh, Masoud Hassanvand Amouzadeh, Shaghayegh Sadat Esmail Nejad, Ezatollah Abasi, Abbas Alipour, Mohsen Mollamohammadi
OBJECTIVE: This study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia. MATERIALS & METHODS: A 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016. The demographic, clinical and paraclinical data were recorded in pre-prepared questionnaires. The patients were also classified in two groups of with or without recurrence and the results were compared...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#8
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/28833961/clinical-relevance-of-abnormal-neuroimaging-findings-and-long-term-risk-of-stroke-recurrence
#9
K-W Nam, H-M Kwon, J-S Lim, M-K Han, Y-S Lee
BACKGROUND AND PURPOSE: Previous studies have revealed that the predictors of short- and long-term stroke recurrence are different. We designed a comprehensive stroke recurrence (CSR) model, composed of demographic, clinical and radiological findings, to predict long-term ischaemic stroke recurrences. METHODS: We retrospectively collected the derivation cohort from consecutive patients with first-ever ischaemic stroke within 7 days of symptom onset. Univariate and multivariable Cox regression analysis were used to evaluate the association between 2-year recurrence and demographic, clinical and neuroradiological factors...
November 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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
#10
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/28750589/brain-atrophy-following-hemiplegic-migraine-attacks
#11
Nadine Pelzer, Evelien S Hoogeveen, Michel D Ferrari, Bwee Tien Poll-The, Mark C Kruit, Gisela M Terwindt
Background Patients with hemiplegic migraine (HM) may sometimes develop progressive neurological deterioration of which the pathophysiology is unknown. Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years. Results Repeated ictal and postictal neuroimaging revealed cytotoxic oedema during severe HM attacks in the symptomatic hemisphere, which later showed atrophic changes...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28747250/normal-neuroanatomical-variants-that-may-be-misinterpreted-as-disease-entities
#12
REVIEW
S Ramji, P Touska, P Rich, A D MacKinnon
Variations of normal development and benign incidental anomalies are frequently observed on diagnostic neuroimaging. It is important these are recognised for what they are, as misinterpretation may result in unnecessary further investigation, follow-up imaging and anxiety. In this article, we review benign intracranial anomalies commonly referred to our unit for specialist neuroradiology advice or multidisciplinary discussion, concerning cysts of the pineal gland and pituitary fossa, vascular anomalies, and perivascular spaces...
October 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28658401/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-a-family-report-from-south-brazil
#13
Daniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, Alessandro Finkelsztejn, Filippo Maria Santorelli, Laura Bannach Jardim, Jonas Alex Morales Saute
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28587881/accidental-duplication-mr-imaging-findings-in-children-with-spasmus-nutans
#14
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/28548617/sporadic-pediatric-meningiomas-a-neuroradiological-and-neuropathological-study-of-15-cases
#15
Kristin Huntoon, Charles P Pluto, Lynne Ruess, Daniel R Boué, Christopher R Pierson, Jerome A Rusin, Jeffrey Leonard
OBJECTIVE Sporadic meningiomas have been classified in many different ways. Radiographically, these lesions can be described as occurring in either typical or atypical locations. The purpose of this study was to determine if there are any histopathological differences between sporadic meningiomas that arise in these varying locations in children. METHODS The neuroimaging, histopathological findings, and clinical records in patients with sporadic pediatric meningiomas not associated with neurofibromatosis Type 2 or prior radiation therapy were retrospectively reviewed...
August 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28537352/is-pseudotumor-cerebri-an-unusual-expression-of-chiari-syndrome-a-case-report-and-review-of-the-literature
#16
Paolo Pacca, Roberto Altieri, Francesco Zenga, Diego Garbossa, Alessandro Ducati, Michele Lanotte
The Chiari I malformation (CM-I) is a developmental alteration of the posterior cranial fossa (PCF), radiographically defined as the descent of the cerebellar tonsils = 5 mm below the foramen magnum (FM) inside the cervical canal. Headache is the most frequent symptom associated with CM-I. The association of CM-I and neurological symptoms configures with Chiari syndrome. A rare symptom associated with Chiari syndrome is intracranial hypertension syndrome with cephalea and papilloedema-the typical findings of pseudotumor cerebri (PTC)...
May 24, 2017: Surgical Technology International
https://www.readbyqxmd.com/read/28501423/teratoma-of-the-nervous-system-a-case-series
#17
Hussein Algahtani, Bader Shirah, Ahad Abdullah, Abdulrahman Bazaid
Teratoma is a common form of germ cell tumors composed of multiple tissues foreign to the site in which arise with a histological representation of all three germ cell layers. Intracranial teratomas are very rare. In this study, we report three cases of intracranial teratomas with an interesting clinical course, neuroradiology, and outcome. In addition, we review the literature and convey important messages to the neuroscience community regarding issues related to the management of these rare tumors. The present cases are interesting examples of intracranial teratoma in terms of location of the tumor and neuroimaging findings...
May 10, 2017: Neurocirugía
https://www.readbyqxmd.com/read/28495946/neuroimaging-changes-in-menkes-disease-part-1
#18
REVIEW
R Manara, L D'Agata, M C Rocco, R Cusmai, E Freri, L Pinelli, F Darra, E Procopio, R Mardari, C Zanus, G Di Rosa, C Soddu, M Severino, M Ermani, D Longo, S Sartori
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28449981/recessive-afg3l2-mutation-causes-progressive-microcephaly-early-onset-seizures-spasticity-and-basal-ganglia-involvement
#19
Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, Saad AlShahwan, Kalthoum Tlili, Khaled Hundallah, Brahim Tabarki
BACKGROUND: Mutations in AFG3L2, a gene encoding a subunit of the mitochondrial m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy. METHODS: Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations. RESULTS: We describe five members of a large consanguineous family with a severe mitochondrial phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, increased blood lactate, basal ganglia involvement, and premature death...
April 5, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28320115/reversible-cerebral-vasoconstriction-syndrome-in-puerperium-a-prospective-study
#20
Gian Paolo Anzola, Renato Brighenti, Milena Cobelli, Alessia Giossi, Sara Mazzucco, Silvia Olivato, Elisa Pari, Maria Paola Piras, Alessandro Padovani, Fabrizio Rinaldi, Giulia Turri
BACKGROUND AND AIM OF THE STUDY: Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe "thunderclap" headache, with or without associated neurological symptoms and neuroimaging findings of reversible vasoconstriction of cerebral arteries. Puerperium is a recognized precipitant, but the incidence of puerperal RCVS is unknown. We conducted a prospective study to assess incidence, risk factors and clinical features of RCVS. MATERIAL AND METHOD: Nine-hundred consecutive puerperae were prospectively enrolled within three days of delivery...
April 15, 2017: Journal of the Neurological Sciences
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