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https://www.readbyqxmd.com/read/28214165/agenesis-of-the-corpus-callosum-and-aicardi-syndrome-a%C3%A2-neuroimaging-and-clinical-comparison
#1
T Govil-Dalela, A Kumar, R Agarwal, H T Chugani
BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females)...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28195512/neuroradiological-findings-of-trisomy-13-in-a-rare-long-term-survivor
#2
Ryan D Goff, Bruno P Soares
Patau syndrome remains a difficult diagnosis for parents and a challenging conversation for clinicians due to the overall poor prognosis. Previous population-based reports have documented the sobering life expectancies of these patients, with few surviving to 1 year of age. Despite the high mortality rate in infants born with trisomy 13, there are several reports of survival into late childhood and early adulthood. While clinical outcomes have been well documented, there has been a paucity of literature describing postnatal imaging findings in long-term survivors...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28181780/diagnosis-treatment-clinical-course-and-prognosis-of-childhood-onset-craniopharyngioma-patients
#3
Hermann L Müller
CONTEXT: For decades gross-total resection was the preferred treatment option in childhood-onset craniopharyngioma, assuming that radical strategies at the time of initial diagnosis and treatment would result in cure. Recent reports on long-term prognosis, novel treatment approaches, and molecular genetics provide new insights into more risk-adapted treatment strategies in order to prevent sequelae such as hypothalamic syndrome. EVIDENCE ACQUISITION: A search for original articles published between 2000 and 2016 was performed in PubMed, Science Citation Index Expanded, EMBASE and Scopus...
February 9, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#4
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28177126/identification-of-novel-snord118-mutations-in-seven-patients-with-leukoencephalopathy-with-brain-calcifications-and-cysts
#5
Kazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-Ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto
Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered the same clinical entity that was termed cerebroretinal microangiopathy with calcifications and cysts, but evidence now suggests that they are genetically distinct...
February 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28173576/book-review-neurovascular-anatomy-in-interventional-neuroradiology-a-case-based-approach
#6
Jonathan A Grossberg
No abstract text is available yet for this article.
June 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28171646/book-review-top-3-differentials-in-neuroradiology-a-case-review
#7
Seena Dehkharghani
No abstract text is available yet for this article.
March 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28168635/imaging-of-post-surgical-treatment-and-of-related-complications-in-spinal-trauma
#8
REVIEW
F Caranci, G Leone, L Ugga, E Cesarano, R Capasso, S Schipani, A Bianco, P Fonio, F Briganti, L Brunese
Spinal trauma is a devastating event with a high morbidity and mortality. The rationale of imaging is to diagnose the traumatic abnormalities and characterize the type of injury, to estimate the severity of the lesions, to evaluate the potential spinal instability. In case of spinal instability, the goals of operative treatment are decompression of the spinal cord canal and stabilization of the disrupted vertebral column. Particularly, diagnostic imaging, mainly by CT and MR, has a main role in the post-treatment evaluation...
February 6, 2017: Musculoskeletal Surgery
https://www.readbyqxmd.com/read/28152815/development-of-an-integrated-practice-unit-utilizing-a-lean-approach-to-impact-value-of-care-for-brain-tumor-patients
#9
Christine Ahn, Preston White, Linda M Liau, Timothy Francis Cloughesy, Phioanh Leia Nghiemphu
: 99 Background: Lack of care coordination across subspecialty departments involved in the treatment of brain tumor patients at our institution has negatively impacted patient outcomes, patient experience, and costs. Meanwhile, value-based health care has become increasingly relevant as a means to respond to changing payment structures and improve quality. With the aim to increase value, we restructured medical practice across the continuum of care for brain tumor patients by developing a virtual (non co-located) Integrated Practice Unit (IPU)...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28149097/magnetic-resonance-imaging-findings-of-isolated-abducent-nerve-palsy-induced-by-vascular-compression-of-vertebrobasilar-dolichoectasia
#10
Hidetaka Arishima, Ken-Ichiro Kikuta
If the origin of isolated abducent nerve palsy cannot be found on neuroradiological examinations, diabetes mellitus is known as a probable cause; however, some cases show no potential causes of isolated abducent nerve palsy. Here, we report a 74-year-old male who suffered from diplopia due to isolated left abducent nerve palsy. Magnetic resonance angiography and fast imaging employing steady-state acquisition imaging clearly showed a dolichoectasic vertebrobasilar artery compressing the left abducent nerve upward and outward...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28142128/the-clinical-phenotype-of-autosomal-dominant-lateral-temporal-lobe-epilepsy-related-to-reelin-mutations
#11
Roberto Michelucci, Patrizia Pulitano, Carlo Di Bonaventura, Simona Binelli, Concetta Luisi, Elena Pasini, Salvatore Striano, Pasquale Striano, Giangennaro Coppola, Angela La Neve, Anna Teresa Giallonardo, Oriano Mecarelli, Elena Serioli, Emanuela Dazzo, Manuela Fanciulli, Carlo Nobile
OBJECTIVE: To describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series. METHODS: Out of 40 Italian families with ADLTE, collected by epileptologists participating in a collaborative study of the Commission for Genetics of the Italian League against Epilepsy encompassing a 14-year period (2000-2014), 7 (17...
January 28, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28137899/cerebral-venous-thrombosis-as-the-first-presentation-of-classical-homocystinuria-in-an-adult-patient
#12
Emily Woods, Charlotte Dawson, Latha Senthil, Tarekegn Geberhiwot
A 30-year-old woman presented with severe headache, dysarthria and right hemiparesis. She was treated for suspected viral encephalopathy and recovered over the following weeks although the headaches persisted. Two months later she was treated in-hospital for pulmonary embolism. The following year she was readmitted for increased frequency of headaches and was given a diagnosis of migraine. A subsequent MRI head scan was suggestive of longstanding venous sinus infarcts and neuroradiology review concluded that encephalitis had been the incorrect initial diagnosis...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28132884/novel-mutation-in-mitochondrial-elongation-factor-ef-tu-associated-to-dysplastic-leukoencephalopathy-and-defective-mitochondrial-dna-translation
#13
Michela Di Nottia, Arianna Montanari, Daniela Verrigni, Romina Oliva, Alessandra Torraco, Erika Fernandez-Vizarra, Daria Diodato, Teresa Rizza, Marzia Bianchi, Michela Catteruccia, Massimo Zeviani, Carlo Dionisi-Vici, Silvia Francisci, Enrico Bertini, Rosalba Carrozzo
The mitochondrial Elongation Factor Tu (EF-Tu), encoded by the TUFM gene, is a highly conserved GTPase, which is part of the mitochondrial protein translation machinery. In its activated form it delivers the aminoacyl-tRNAs to the A site of the mitochondrial ribosome. We report here on a baby girl with severe infantile macrocystic leukodystrophy with micropolygyria and a combined defect of complexes I and IV in muscle biopsy, caused by a novel mutation identified in TUFM. Using human mutant cells and the yeast model, we demonstrate the pathological role of the novel variant...
January 26, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28131534/the-first-sixty-five-craniopharyngioma-operations-in-france
#14
REVIEW
I Castro-Dufourny, R Carrasco, R Prieto, L Barrios, J-M Pascual
Craniopharyngiomas (CPs) are benign epithelial tumors that develop along the hypothalamus-hypophyseal axis and were first described by Jakob Erdheim in 1904. These tumors have represented a challenge for surgeons since the rise of modern neurosurgery. The study of CPs is linked to the development of this surgical discipline in parallel with neuroendocrinology within the French school of neurology, led by Joseph Babinski. For the present study, all CP cases published in the French scientific literature before the development of modern neuroradiology were gathered, and 65 cases that underwent surgical procedures between 1921 and 1973 were selected...
January 25, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28120582/diagnostic-clue-of-meningeal-melanocytoma-case-report-and-review-of-literature
#15
Jae Koo Lee, Young Joon Rho, Dong Mun Jeong, Seung Chul Rhim, Sang Joon Kim
In this report, the patient was pre-diagnosed as meningioma before surgery, which turned out to be meningeal melanocytoma. Hence, we will discuss the interpretation of imaging and neurological statuses that may help avoid this problem. A 45-year-old man had increasing pain around the neck 14 months prior to admission. His cervical spine MR imaging revealed a space-occupying, contrast-enhancing mass within the dura at the level of C1. The neurologic examination revealed that the patient had left-sided lower extremity weakness of 4+, decreased sensation on the right side, and hyperreflexia in both legs...
March 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28120179/comparison-of-gesture-and-conventional-interaction-techniques-for-interventional-neuroradiology
#16
Julian Hettig, Patrick Saalfeld, Maria Luz, Mathias Becker, Martin Skalej, Christian Hansen
PURPOSE: Interaction with radiological image data and volume renderings within a sterile environment is a challenging task. Clinically established methods such as joystick control and task delegation can be time-consuming and error-prone and interrupt the workflow. New touchless input modalities may have the potential to overcome these limitations, but their value compared to established methods is unclear. METHODS: We present a comparative evaluation to analyze the value of two gesture input modalities (Myo Gesture Control Armband and Leap Motion Controller) versus two clinically established methods (task delegation and joystick control)...
January 24, 2017: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/28120080/functional-magnetic-resonance-imaging-fmri-pre-intraoperative-tractography-in-neurosurgery-the-experience-of-sant-andrea-rome-university-hospital
#17
Giancarlo D'Andrea, Giuseppe Trillo', Veronica Picotti, Antonino Raco
BACKGROUND: The goal of neurosurgery for cerebral intraparenchymal neoplasms of the eloquent areas is maximal resection with the preservation of normal functions, and minimizing operative risk and postoperative morbidity. Currently, modern technological advances in neuroradiological tools, neuronavigation, and intraoperative magnetic resonance imaging (MRI) have produced great improvements in postoperative morbidity after the surgery of cerebral eloquent areas. The integration of preoperative functional MRI (fMRI), intraoperative MRI (volumetric and diffusion tensor imaging [DTI]), and neuronavigation, defined as "functional neuronavigation" has improved the intraoperative detection of the eloquent areas...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/28120074/management-of-cerebral-radiation-necrosis-a-retrospective-study-of-12-patients
#18
Chenlong Liao, Massimiliano Visocchi, Wenchuan Zhang, Min Yang, Wenxiang Zhong, Pengfei Liu
BACKGROUND: Cerebral radiation necrosis (RN) is a severe complication of radiotherapy for cerebral pathologies. This study discusses the radiographic and pathological features of 12 patients with RN and investigates the management strategy. METHODS: Eleven patients with brain tumors, and one with cerebral cavernous angioma, treated by surgical resection or Gamma Knife alone before radiotherapy developed RN during follow-up. Surgical resection for the cerebral RN was performed in nine patients, and the other three patients received medical treatment...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/28118149/assessment-of-the-occupational-eye-lens-dose-for-clinical-staff-in-interventional-radiology-cardiology-and-neuroradiology
#19
Artur Omar, Nils Kadesjö, Charlotta Palmgren, Maria Marteinsdottir, Tony Segerdahl, Annette Fransson
In accordance with recommendations by the International Commission on Radiological Protection, the current European Basic Safety Standards has adopted a reduced occupational eye lens dose limit of 20 mSv yr(-1). The radiation safety implications of this dose limit is of concern for clinical staff that work with relatively high dose x-ray angiography and interventional radiology. Presented in this work is a thorough assessment of the occupational eye lens dose based on clinical measurements with active personal dosimeters worn by staff during various types of procedures in interventional radiology, cardiology and neuroradiology...
January 24, 2017: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/28112050/alexander-disease
#20
Ali Tavasoli, Thais Armangue, Cheng-Ying Ho, Matthew Whitehead, Miriam Bornhorst, Jullie Rhee, Eugene I Hwang, Elizabeth M Wells, Roger Packer, Marjo S van der Knaap, Marianna Bugiani, Adeline Vanderver
Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal ganglia/thalamus. In rare cases, focal lesions have been seen and cause concern for primary malignancies. Here the authors present an infant initially diagnosed with a chiasmatic astrocytoma that was later identified as having glial fibrillary acidic protein mutation-confirmed Alexander disease...
February 2017: Journal of Child Neurology
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