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https://www.readbyqxmd.com/read/30078044/imaging-of-cancer-predisposition-syndromes
#1
REVIEW
Mary-Louise C Greer
Pediatric cancer predisposition syndromes comprise a group of diseases characterized by specific tumors or a concomitance of tumors in infants, children and adolescents, suggesting a genetic cancer susceptibility condition. Most but not all have germline pathogenic variants on genetic testing. For some children with cancer predisposition syndromes, this diagnosis is based on their own or a family history of related neoplasms, or associated clinical manifestations. These tumors have variable incidence and age of onset...
August 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/30046487/silent-cerebral-mri-findings-in-lupus-nephritis-patients-is-it-clinically-significant
#2
Mohamed A Hussein, Yumn A Elsabagh, Ahmed Hosny, Hala Elgendy
Lupus nephritis (LN) carries high morbidity and mortality and whenever added to neuropsychiatric manifestations lead to more unfavorable prognosis. Though silent brain MRI findings in systemic lupus erythematosus (SLE) had been widely studied, the current work focused on LN patients comparing them to those without kidney affection, studying their cerebral MRI and its correlation with the histopathological classes of LN and disease activity. This may enable us to know more about early brain affection in LN patients for better follow up, management, and prognosis of this serious comorbidity...
January 2018: Journal of Advanced Research
https://www.readbyqxmd.com/read/30042794/an-incidental-finding-of-ecchordosis-physaliphora-in-a-case-of-abducens-nerve-palsy-case-report
#3
Chike Ilorah, Brandon Bond, Jorge C Kattah, Bahareh Hassanzadeh
Ecchordosis physaliphora (EP) is a rare non-malignant mass that originates from remains of the notochord and is typically asymptomatic. A 42-year-old man presented with sudden onset of painless horizontal diplopia and his neurological exam showed sixth cranial nerve palsy. Magnetic resonance imaging (MRI) identified a non-enhanced retroclival mass (EP) with increased signal intensity on T2 and decreased signal intensity on T1-weighted sequences. He was treated with methylprednisolone, completely recovered in four weeks and has remained symptom free...
August 2018: Neuro-ophthalmology
https://www.readbyqxmd.com/read/30036288/the-sensitivity-and-specificity-of-preoperative-history-physical-examination-and-magnetic-resonance-imaging-to-predict-articular-cartilage-injuries-in-symptomatic-discoid-lateral-meniscus
#4
Brian C Lau, Toure Vashon, Abhinav Janghala, Nirav K Pandya
BACKGROUND: Discoid lateral meniscus (DLM) is a morphologic variant in which concomitant articular cartilage defects lead to poor outcomes. The purpose of this study was to quantify the prognostic ability of history, physical examination, and magnetic resonance imaging (MRI) to identify arthroscopically confirmed articular cartilage injury in pediatric and adolescent DLM patients. METHODS: An analysis of 34 consecutive patients (mean, 12.5 y) who underwent surgical treatment for DLM...
July 20, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29983215/analysis-of-detailed-clinical-characteristics-of-spinal-subdural-hematoma-following-lumbar-decompression-surgery
#5
Masanori Izeki, Koutatsu Nagai, Masato Ota, Yasutaka Matsuda, Shuichi Matsuda
BACKGROUND: Only a few reports have described symptomatic patients with postoperative spinal subdural hematoma (SSH) for which further surgery may have been required. No report has focused on the detailed clinical characteristics of postoperative SSH, including asymptomatic cases, in a case series. The reasons for this may be that SSH is an implicitly recognized rare entity, and there is no established consensus regarding the significance of performing postoperative magnetic resonance imaging (MRI) for all cases and the time at which to perform it...
July 5, 2018: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/29931417/correlation-of-benign-incidental-findings-seen-on-whole-body-pet-ct-with-knee-mri-patterns-of-18-f-fdg-avidity-intra-articular-pathology-and-bone-marrow-edema-lesions
#6
Christopher J Burke, William R Walter, Sushma Gaddam, Hien Pham, James S Babb, Joseph Sanger, Fabio Ponzo
OBJECTIVES: To correlate patterns of 18 F-FDG uptake on whole-body PET-CT with MR findings and compare the degree of FDG activity between symptomatic and asymptomatic knees. MATERIALS AND METHODS: Retrospective database query was performed using codes for knee MRI as well as whole-body PET-CT. Patients with malignant disease involving the knee or hardware were excluded. Patients who had both studies performed within 1 year between 2012 and 2017 were included for analysis...
June 21, 2018: Skeletal Radiology
https://www.readbyqxmd.com/read/29929997/hereditary-lobular-breast-cancer-with-an-emphasis-on-e-cadherin-genetic-defect
#7
Giovanni Corso, Joana Figueiredo, Carlo La Vecchia, Paolo Veronesi, Gabriella Pravettoni, Debora Macis, Rachid Karam, Roberto Lo Gullo, Elena Provenzano, Antonio Toesca, Ketti Mazzocco, Fátima Carneiro, Raquel Seruca, Soraia Melo, Fernando Schmitt, Franco Roviello, Alessandra Margherita De Scalzi, Mattia Intra, Irene Feroce, Elisa De Camilli, Maria Grazia Villardita, Chiara Trentin, Francesca De Lorenzi, Bernardo Bonanni, Viviana Galimberti
Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction...
July 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29928513/characterization-of-spinal-cord-diffusion-tensor-imaging-metrics-in-clinically-asymptomatic-pediatric-subjects-with-incidental-congenital-lesions
#8
Sona Saksena, Mahdi Alizadeh, Devon M Middleton, Chris J Conklin, Laura Krisa, Adam Flanders, M J Mulcahey, Feroze B Mohamed, Scott H Faro
Study design: Retrospective study. Objectives: To perform quantitative DTI measurements of the entire cervical and thoracic spinal cord (SC) in typically developing (TD) pediatric subjects with incidental findings of syringomyelia or hydromyelia on conventional MRI and in a TD population without any abnormalities. Setting: USA. Methods: 26 TD recruited as part of large SC DTI study, four of these had incidental findings...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29926239/incidental-diagnosis-of-tuberous-sclerosis-complex-by-exome-sequencing-in-three-families-with-subclinical-findings
#9
R C Caylor, L Grote, I Thiffault, E G Farrow, L Willig, S Soden, S M Amudhavalli, A J Nopper, K A Horii, E Fleming, J Jenkins, H Welsh, M Ilyas, K Engleman, A Abdelmoity, C J Saunders
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, although penetrance is reportedly complete. We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3...
August 2018: Neurogenetics
https://www.readbyqxmd.com/read/29914908/prevalence-and-outcomes-of-incidental-imaging-findings-umbrella-review
#10
Jack W O'Sullivan, Tim Muntinga, Sam Grigg, John P A Ioannidis
OBJECTIVE: To provide an overview of the evidence on prevalence and outcomes of incidental imaging findings. DESIGN: Umbrella review of systematic reviews. DATA SOURCES: Searches of MEDLINE, EMBASE up to August 2017; screening of references in included papers. ELIGIBILITY CRITERIA: Criteria included systematic reviews and meta-analyses of observational studies that gave a prevalence of incidental abnormalities ("incidentalomas")...
June 18, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29886437/prevalence-of-knee-osteoarthritis-features-on-magnetic-resonance-imaging-in-asymptomatic-uninjured-adults-a-systematic-review-and-meta-analysis
#11
REVIEW
Adam G Culvenor, Britt Elin Øiestad, Harvi F Hart, Joshua J Stefanik, Ali Guermazi, Kay M Crossley
BACKGROUND: Knee MRI is increasingly used to inform clinical management. Features associated with osteoarthritis are often present in asymptomatic uninjured knees; however, the estimated prevalence varies substantially between studies. We performed a systematic review with meta-analysis to provide summary estimates of the prevalence of MRI features of osteoarthritis in asymptomatic uninjured knees. METHODS: We searched six electronic databases for studies reporting MRI osteoarthritis feature prevalence (ie, cartilage defects, meniscal tears, bone marrow lesions and osteophytes) in asymptomatic uninjured knees...
June 9, 2018: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/29879768/usefulness-of-oblique-lumbar-magnetic-resonance-imaging-for-nerve-root-anomalies-and-extraforaminal-entrapment-lesions
#12
Dong Hwa Heo, Seok Woo Kim, Hsien-Hao Chang, Choon-Keun Park
STUDY DESIGN: A retrospective review of prospectively evaluated magnetic resonance (MR) images. PURPOSE: Routine lumbar axial and sagittal MR images may not clearly demonstrate nerve root anomalies and entrapments in the extraforaminal region. Thus, lumbar extraforaminal lesions or nerve root anomalies may be underdiagnosed because of unfamiliar radiological anatomy. We aimed to investigate the clinical efficacy of our oblique magnetic resonance imaging (MRI) technique for diagnosing nerve root anomalies and entrapment lesions...
June 2018: Asian Spine Journal
https://www.readbyqxmd.com/read/29876600/-diagnosis-of-multiple-sclerosis-revision-of-the-mcdonald-criteria-2017
#13
REVIEW
O Aktas, M P Wattjes, M Stangel, H-P Hartung
Multiple sclerosis (MS) is the most common chronic autoimmune disorder of the central nervous system (CNS) largely affecting young adults. The diagnosis of MS is based on two pillars: 1) detection of the spatial and temporal dissemination of focal neurological deficits and 2) exclusion of important differential diagnoses. The current revision of the diagnostic criteria (McDonald 2017) also follows these principles, takes new data on magnetic resonance imaging (MRI) into account and reintroduces the role of cerebrospinal fluid (CSF) diagnostics for relapsing-remitting forms...
June 6, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29867742/galactosidase-alpha-p-a143t-variant-fabry-disease-may-result-in-a-phenotype-with-multifocal-microvascular-cerebral-involvement-at-a-young-age
#14
Lothar Hauth, Jeroen Kerstens, Laetitia Yperzeele, François Eyskens, Paul M Parizel, Barbara Willekens
Introduction: A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A activity (0.62 µmol/L or 13% of normal; normal range ≥ 1.65 μmol/L) and genetic investigation confirmed the presence of a hemizygous missense variant in the galactosidase alpha (GLA) gene (p...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29845007/gray-matter-changes-in-asymptomatic-c9orf72-and-grn-mutation-carriers
#15
Karteek Popuri, Emma Dowds, Mirza Faisal Beg, Rakesh Balachandar, Mahadev Bhalla, Claudia Jacova, Adrienne Buller, Penny Slack, Pheth Sengdy, Rosa Rademakers, Dana Wittenberg, Howard H Feldman, Ian R Mackenzie, Ging-Yuek R Hsiung
Frontotemporal dementia (FTD) is a neurodegenerative disease with a strong genetic basis. Understanding the structural brain changes during pre-symptomatic stages may allow for earlier diagnosis of patients suffering from FTD; therefore, we investigated asymptomatic members of FTD families with mutations in C9orf72 and granulin ( GRN ) genes. Clinically asymptomatic subjects from families with C9orf72 mutation (15 mutation carriers, C9orf72 +; and 23 non-carriers, C9orf72 -) and GRN mutations (9 mutation carriers, GRN +; and 15 non-carriers, GRN -) underwent structural neuroimaging (MRI)...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29805083/neovascularization-in-vertebral-artery-atheroma-a-dynamic-contrast-enhanced-magnetic-resonance-imaging-based-comparative-study-in-patients-with-symptomatic-and-asymptomatic-carotid-artery-disease
#16
Ammara Usman, Jianmin Yuan, Andrew J Patterson, Martin J Graves, Kevin Varty, Umar Sadat, Jonathan H Gillard
BACKGROUND: Atherosclerosis is a systemic inflammatory disease intertwined with neovascularization. Dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) enables the assessment of plaque neovascularization. This study aimed to explore the systemic nature of atherosclerosis by assessing difference in severity of neovascularization as quantified by DCE-MRI of vertebral arteries (VAs) between patients with symptomatic and asymptomatic carotid artery disease. METHODS: Ten consecutive patients with asymptomatic VA stenosis and concomitant symptomatic carotid artery disease (group 1) and 10 consecutive patients with asymptomatic VA stenosis and concomitant asymptomatic carotid artery disease (group 2) underwent 3-dimensional DCE-MRI of their cervical segment of VAs...
May 24, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29795085/-spinal-cord-epidermoid-cysts
#17
Yu V Kushel', A R Tekoev, B Z Chel'diev
The article describes in detail a large modern clinical series of patients operated on for spinal cord epidermoid cysts. AIM: the study aim was to comprehensively investigate the epidemiological and clinical peculiarities of spinal cord epidermoid cysts and evaluate immediate and long-term results of their surgical treatment. MATERIAL AND METHODS: We describe and analyze surgical outcomes of 20 patients with spinal cord epidermoid cysts. This sample was selected from 554 patients with intramedullary tumors and 365 patients with spinal dysraphism (aged from 2 months to 72 years) who were operated on by the first author in 2002-2017...
2018: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/29794236/clinical-significance-of-intraplaque-hemorrhage-in-low-and-high-grade-basilar-artery-stenosis-on-high-resolution-mri
#18
C Zhu, X Tian, A J Degnan, Z Shi, X Zhang, L Chen, Z Teng, D Saloner, J Lu, Q Liu
BACKGROUND AND PURPOSE: Intraplaque hemorrhage within intracranial atherosclerotic plaques identified by high-resolution MR imaging has been studied as a potential marker of stroke risk. However, previous studies only examined intracranial arteries with high-grade stenosis (degree of stenosis, >50%). This study aimed to ascertain the clinical relevance of intraplaque hemorrhage in patients with low- and high-grade stenotic basilar artery plaques. MATERIALS AND METHODS: Patients with basilar artery stenosis ( n = 126; mean age, 62 ± 10 years; 66 symptomatic and 60 asymptomatic) underwent high-resolution MR imaging...
July 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29791956/accessory-muscles-of-the-extremities
#19
Filip M Vanhoenacker, Julie Desimpel, Marc Mespreuve, Alberto Tagliafico
Accessory muscles and variations are not uncommon at the upper and lower extremity. They are often overlooked because they are asymptomatic and present as incidental findings on imaging. However, they may present as a soft tissue swelling, thereby mimicking soft tissue tumors. Other symptoms are attributed to impingement on neurovascular structures and to exercise-related pain. Thorough knowledge of the anatomy, systematic imaging analysis, and the awareness of it are the clues to correct identification. On ultrasound, accessory muscles have a similar echotexture as other muscles, whereas the signal intensity on magnetic resonance imaging (MRI) is similar to muscle...
July 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29780960/waldenstrom-macroglobulinemia-involving-the-superior-rectus-muscle
#20
J B Hellman, G J Harocopos, L K Lin
Purpose: We present the first reported case of Waldenstrom macroglobulinemia in the right superior rectus causing diplopia. Observations: A 72-year-old man with a 6-month history of untreated asymptomatic Waldenstrom macroglobulinemia presented with 2 years of diagonal binocular diplopia that was previously thought to be due to ocular myasthenia gravis. Examination showed mild right proptosis and right hypotropia, and MRI revealed a focal lesion of the right superior rectus muscle...
June 2018: American Journal of Ophthalmology Case Reports
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