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https://www.readbyqxmd.com/read/29775593/structure-of-telomerase-with-telomeric-dna
#1
Jiansen Jiang, Yaqiang Wang, Lukas Sušac, Henry Chan, Ritwika Basu, Z Hong Zhou, Juli Feigon
Telomerase is an RNA-protein complex (RNP) that extends telomeric DNA at the 3' ends of chromosomes using its telomerase reverse transcriptase (TERT) and integral template-containing telomerase RNA (TER). Its activity is a critical determinant of human health, affecting aging, cancer, and stem cell renewal. Lack of atomic models of telomerase, particularly one with DNA bound, has limited our mechanistic understanding of telomeric DNA repeat synthesis. We report the 4.8 Å resolution cryoelectron microscopy structure of active Tetrahymena telomerase bound to telomeric DNA...
May 17, 2018: Cell
https://www.readbyqxmd.com/read/29736421/exquisite-response-to-intravenous-immunoglobulin-in-susac-syndrome-during-pregnancy
#2
Enrique Gomez-Figueroa, Sofia Garcia-Trejo, Raul Anwar Garcia-Santos, Gerardo Quiñones-Pesqueira, Juan Manuel Calleja-Castillo
Introduction: From its initial report on two female patients in 1979 by J.O. Susac, Susac syndrome (SuS) or SICRET (small infarctions of cochlear, retinal and encephalic tissue) has persisted as an elusive entity. To date the available evidence for its treatment is based on case reports and case series. The largest systematic review described only 304 reported cases since the 1970s. Here we presented the first reported case to our knowledge in Mexican population and the unusual presentation in a pregnant patient...
March 2018: ENeurologicalSci
https://www.readbyqxmd.com/read/29675082/susac-s-syndrome-retinocochleocerebral-vasculopathy-follow-up-of-a-pediatric-patient
#3
Zeynep Selen Karalok, Birce Dilge Taskin, Alev Guven, Cemile Atilgan Ucgul, Omer Faruk Aydin
Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29596114/acute-macular-neuroretinopathy-in-susac-syndrome-a-new-association
#4
Yong-Sheng Yang, Lily Zhang, Negar Asdaghi, Christopher R Henry, Janet L Davis
PURPOSE: To report a case of acute macular neuroretinopathy in a patient with Susac syndrome. METHODS: Case report. RESULTS: A 39-year-old male patient presented with severe headache, photopsias, and a sudden onset of hearing loss in the right ear. Fluorescein angiography of the right eye revealed multiple branch retinal artery occlusions. Clinical presentation of encephalopathy, hearing loss, and branch retinal artery occlusions, along with characteristic magnetic resonance imaging findings, led to a diagnosis of Susac syndrome...
March 28, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29574788/mechanisms-underlying-lesion-development-and-lesion-distribution-in-cns-autoimmunity
#5
REVIEW
Maren Lindner, Luisa Klotz, Heinz Wiendl
It is widely accepted that development of autoimmunity in the central nervous system (CNS) is triggered by autoreactive T cells, that are activated in the periphery and gain the capacity to migrate through endothelial cells at the blood-brain-barrier (BBB) into the CNS. Upon local reactivation, an inflammatory cascade is initiated, that subsequently leads to a recruitment of additional immune cells ultimately causing demyelination and axonal damage. Even though the interaction of immune cells with the BBB has been in the focus of research for many years, the exact mechanisms of how immune cells enter and exit the CNS remains poorly understood...
March 25, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29449066/characteristics-of-headache-in-relation-to-the-manifestation-of-susac-syndrome
#6
Diana Obelienienė, Raminta Macaitytė, Renata Balnytė, Rūta Pėstininkaitė, Rymantė Gleiznienė, Jūratė Balčiūnienė
Susac syndrome is characterized by a clinical triad of encephalopathy, branch retinal artery occlusion, and hearing loss. Due to the absence of the whole complex of the triad in the majority of cases at disease presentation, the syndrome often remains underdiagnosed and untreated. Headache is estimated to affect up to 80% of Susac syndrome patients, but the relevance of headache characteristics and profile is not yet clear. The proposed diagnostic criteria of the European Susac Consortium acknowledge headache as a possible brain manifestation if it is new, described as migrainous or oppressive, and precedes the other symptoms by not more than 6 months...
2017: Medicina
https://www.readbyqxmd.com/read/29341996/retinal-arterio-arterial-collaterals-in-susac-syndrome
#7
Robert A Egan, Guy Jirawuthiworavong, Norah S Lincoff, John J Chen, Courtney E Francis, Jacqueline A Leavitt
BACKGROUND: The ophthalmic findings of Susac syndrome (SS) consist of visual field defects related to branch retinal artery occlusion (BRAO), and fluorescein angiography (FA) reveals a unique staining pattern. To date, retinal arterial collateral development has been described only in a single patient. Given that the immunopathological process in SS induces retinal ischemia, it is conceivable that abnormal blood vessel development may occur in affected individuals. METHODS: This is a retrospective observational study...
January 16, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29319463/guidelines-for-treatment-of-susac-syndrome-an-update
#8
Robert M Rennebohm, Negar Asdaghi, Sunil Srivastava, Elie Gertner
Susac syndrome is an immune-mediated, pauci-inflammatory, ischemia-producing, occlusive microvascular endotheliopathy/basement membranopathy that affects the brain, retina, and inner ear. Treatment of Susac syndrome is particularly challenging. The organs involved can easily become irreversibly damaged, and the window of opportunity to protect them is often short. Optimal outcome requires rapid and complete disease suppression. Adding to the challenge is the absence of objective biomarkers of disease activity and the great variability in presentation, timing and extent of peak severity, duration of peak severity, and natural disease course...
January 1, 2018: International Journal of Stroke: Official Journal of the International Stroke Society
https://www.readbyqxmd.com/read/29310340/the-first-case-report-of-a-large-deletion-of-the-brca1-gene-in-croatia-a-case-report
#9
Vesna Musani, Ilona Sušac, Petar Ozretić, Domagoj Eljuga, Sonja Levanat
RATIONALE: Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer. PATIENT CONCERNS: In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33. DIAGNOSIS: Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29279239/retinal-and-optic-disc-vasculitis-in-susac-s-syndrome
#10
J L Sánchez-Vicente, F E Molina-Sócola, A Medina-Tapia, A Moruno-Rodríguez, S Gálvez-Carvajal, F López-Herrero
CASE REPORT: The case is presented of 42 year-old woman with no significant medical history, with severe headaches, nausea and vomiting, hearing loss, and alteration of mental status with disorientation and confusion. Ophthalmic examination showed optic disc hyperaemia in right eye, and focal areas of arteriolar occlusion in both eyes. Audiometry demonstrated bilateral neurosensory hypoacusis. Magnetic Resonance Imaging showed multiple small round hyperintense lesions located in the splenium, corpus callosum, basal ganglia, and white matter...
December 23, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29278635/anxiety-sensitivity-as-a-predictor-of-academic-success-of-medical-students-at-the-university-of-mostar
#11
Amra Zalihić, Sabina Mešukić, Bože Sušac, Katarina Knezović, Marko Martinac
Higher education students comprise a particularly vulnerable group for the development of anxiety symptoms and disorders. The aim of our research was to examine the impact of anxiety sensitivity on the success of medical students at the University of Mostar, and to establish the differences between students depending on their sex and the year of study. One hundred students in their first and fifth year of medical school were interviewed using the ASI questionnaire, 7 days prior to their final exams. Here we demonstrate a positive correlation between anxiety sensitivity and academic success...
December 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/29103247/susac-syndrome-a-rare-cause-of-a-confusional-state
#12
Chen Ben David, Kassem Sharif, Abdulla Watad, Nicola Luigi Bragazzi, Mohammad Adawi
No abstract text is available yet for this article.
October 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29051833/anatomical-and-functional-correlation-in-susac-syndrome-multimodal-imaging-assessment
#13
Alexandre G B Azevedo, Luiz H Lima, Léo Müller, Flávio Rezende Filho, Cláudio Zett, André Maia, Luiz Roisman
BACKGROUND: Susac's syndrome (SuS) is an uncommon disease characterized by retinal microangiopathy that may be assessed more accurately with optical coherence tomography angiography (OCTA), a new imaging technique which provides a retinal microvasculature map. The purpose of this case report is to describe the multimodal imaging findings of SuS correlating OCTA with functional tests. CASE PRESENTATION: Retrospective review of one case with clinical and imaging evidence of SuS...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29016525/paracentral-acute-middle-maculopathy-in-susac-syndrome
#14
Ali S Haider, Deepa Viswanathan, David Williams, Peter Davies
PURPOSE: To present the first reported case of paracentral acute middle maculopathy in association with Susac syndrome. METHOD: Case report. RESULTS: A young female patient presented with unilateral sudden loss of vision of her right eye to count fingers. There were numerous cotton wool spots in a multifocal pattern concentrated around the right macula and optic disk. Clinical examination and spectral domain optical coherence tomography imaging were consistent with paracentral acute middle maculopathy, and fluorescein angiography showed features of retinal arteriole vasculitis...
October 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28987176/immune-mediated-disorders
#15
REVIEW
Romana Höftberger, Hans Lassmann
Paraneoplastic and autoimmune encephalitis comprise a group of immune-mediated disorders that are associated with different immune effector mechanisms. Classic paraneoplastic neurologic syndromes are triggered by an antitumor immune response. The disease is considered to result from a T-cell response; in addition, patients harbour high titers of autoantibodies against intracellular antigens that are considered as epiphenomenon but are useful diagnostic markers. Neuropathology consists of T-cell-dominated inflammation, marked neuronal loss, and microglial activation with upregulation of HLA-DR...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28959874/high-resolution-vessel-wall-imaging-of-three-patients-with-susac-s-syndrome
#16
Vance T Lehman, James P Klaas, Ashima Makol, Waleed Brinjikji, Deena M Nasr, Mahmud Mossa-Basha, George W Petty, John Huston
No abstract text is available yet for this article.
September 28, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28943023/susac-s-syndrome-a-case-of-autoimmune-encephalitis
#17
D Mora López, A Tristancho Garzon, M Guzmam Llorente, C Jiménez Conde, A Montero Urbina, P Oliva Fernandez
No abstract text is available yet for this article.
September 21, 2017: Medicina Intensiva
https://www.readbyqxmd.com/read/28933135/headache-in-a-young-woman-do-not-forget-susac-s-syndrome
#18
A Kefi, F Said, T Ben Salem, M Khedher, M Khanfir, I Ben Ghorbel, M Lamloum, M H Houman
Susac syndrome is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. This underdiagnosed condition needs to be considered in the differential diagnosis of a broad variety of disorders. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the importance of an aggressive therapeutic approach, including the combination of steroids and other cytotoxic drugs...
September 21, 2017: Reumatismo
https://www.readbyqxmd.com/read/28922012/neuropsychological-outcome-of-a-case-of-susac-syndrome-a-two-year-follow-up-study
#19
Andrew W Barritt, Mirdhu Wickremaratchi, Stuart J Anderson
Susac syndrome is a rare condition characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Of the few published cases, there is variability with regard to cognitive outcome. We describe the clinical course and neuropsychological performance of a 21-year-old male patient presenting with severe encephalopathy and later developing the full triad fulfilling the diagnosis of Susac syndrome.
September 18, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/28899478/clinically-diagnosed-susac-syndrome-in-a-50-year-old
#20
Francesca M Brett, Seamus Looby, Conor Fearon, Peter Widdess-Walsh
No abstract text is available yet for this article.
November 2017: Clinical Neuropathology
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