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Bethany A Croker, James P Scurry, Frances M Petry, Gayle Fischer
OBJECTIVES: The aims of this case series were to present a series of patients with clinical and histopathological findings consistent with a recently described condition vestibular sclerosis (VS) and to contribute to the current discussion of whether VS is a subset of lichen sclerosus (LS) or a distinct entity. MATERIALS AND METHODS: This case series of 6 women for a 12-month period was initiated from an ongoing collaboration between a gynecological dermatologist and an anatomical pathologist specializing in gynecological dermatopathology...
July 2018: Journal of Lower Genital Tract Disease
Tomomi Shijo, Hitoshi Warita, Naoki Suzuki, Kensuke Ikeda, Shio Mitsuzawa, Tetsuya Akiyama, Hiroya Ono, Ayumi Nishiyama, Rumiko Izumi, Yasuo Kitajima, Masashi Aoki
Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative syndrome characterized by the systemic loss of motor neurons with prominent astrocytosis and microgliosis in the spinal cord and brain. Astrocytes play an essential role in maintaining extracellular microenvironments that surround motor neurons, and are activated by various insults. Growing evidence points to a non-cell autonomous neurotoxicity caused by chronic and sustained astrocytic activation in patients with neurodegenerative diseases, including ALS...
June 19, 2018: Experimental Neurology
Jérôme Leclerc-Loiselle, Alain Legault
BACKGROUND: Even with the desire of home-based health professionals to provide supportive care, the palliative needs of people living with multiple sclerosis (MS) remain unmet. AIM: To describe the perceptions of home-based health professionals concerning the introduction of a palliative care approach in the care trajectory of people living with advanced MS. METHOD: Based on an exploratory qualitative design, focus groups and individual interviews were conducted with nurses, occupational therapists and social workers (n=13 professionals)...
June 2, 2018: International Journal of Palliative Nursing
Fabio Grassia, Andrew V Poliakov, Sandra L Poliachik, Kaitlyn Casimo, Seth D Friedman, Hillary Shurtleff, Carlo Giussani, Edward J Novotny, Jeffrey G Ojemann, Jason S Hauptman
OBJECTIVE Functional connectivity magnetic resonance imaging (fcMRI) is a form of fMRI that allows for analysis of blood oxygen level-dependent signal changes within a task-free, resting paradigm. This technique has been shown to have efficacy in evaluating network connectivity changes with epilepsy. Presurgical data from patients with unilateral temporal lobe epilepsy were evaluated using the fcMRI technique to define connectivity changes within and between the diseased and healthy temporal lobes using a within-subjects design...
June 22, 2018: Journal of Neurosurgery. Pediatrics
Lisa G Gallagher, Sindana Ilango, Annette Wundes, Gary A Stobbe, Katherine W Turk, Gary M Franklin, Martha S Linet, D Michal Freedman, Bruce H Alexander, Harvey Checkoway
BACKGROUND: Low exposure to ultraviolet radiation (UVR) from sunlight may be a risk factor for developing multiple sclerosis (MS). Possible pathways may be related to effects on immune system function or vitamin D insufficiency, as UVR plays a role in the production of the active form of vitamin D in the body. OBJECTIVE: This study examined whether lower levels of residential UVR exposure from sunlight were associated with increased MS risk in a cohort of radiologic technologists...
June 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Sandra Magalhaes, Brenda Banwell, Amit Bar-Or, Isabel Fortier, Heather E Hanwell, Ming Lim, Georg E Matt, Rinze F Neuteboom, David L O'Riordan, Paul K Schneider, Maura Pugliatti, Bryna Shatenstein, Catherine M Tansey, Evangeline Wassmer, Christina Wolfson
BACKGROUND: While studying the etiology of multiple sclerosis (MS) in children has several methodological advantages over studying etiology in adults, studies are limited by small sample sizes. OBJECTIVE: Using a rigorous methodological process, we developed the Pediatric MS Tool-Kit, a measurement framework that includes a minimal set of core variables to assess etiological risk factors. METHODS: We solicited input from the International Pediatric MS Study Group to select three risk factors: environmental tobacco smoke (ETS) exposure, sun exposure, and vitamin D intake...
June 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Flavio Nobili, Javier Arbizu, Femke Bouwman, Alexander Drzezga, Federica Agosta, Peter Nestor, Zuzana Walker, Marina Boccardi
BACKGROUND: Recommendations for using FDG-PET to support the diagnosis of dementing neurodegenerative disorders are sparse and poorly structured. METHODS: We defined 21 questions on diagnostic issues and on semi-automated analysis to assist visual reading. Literature was reviewed to assess study design, risk of bias, inconsistency, imprecision, indirectness and effect size. Critical outcomes were sensitivity, specificity, accuracy, positive/negative predictive value, area under the receiving operating characteristic curve, and positive/negative likelihood ratio of FDG-PET in detecting the target conditions...
June 22, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
M Glushkova, V Bojinova, M Koleva, P Dimova, M Bojidarova, I Litvinenko, T Todorov, E Iluca, C Calusaru, E Neagu, D Craiu, V Mitev, A Todorova
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of hamartomas localized in various tissues which can occur in the skin, brain, kidney and other organs. TSC is caused by mutations in the TSC1 and TSC2 genes. Here we report the results from the first molecular testing of 16 Bulgarian patients and one Romanian patient in whom we found six novel mutations: four in the TSC2 2 gene, of which one is nonsense, two frame shift and one large deletion of 16 exons; and two in the TSC1 gene, one nonsense and other frame shift...
June 2018: Journal of Genetics
Irfan Durukan
BACKGROUND: Although ageing is the main reason for cataract progression, pseudoexfoliation syndrome (PES) represents an independent additional hazard for the development of nuclear sclerosis and cataract progression. PES can also affect corneal properties. From this perspective, this study aimed to perform a comparison of the corneal and lens densitometry measurements in eyes with PES and age-matched healthy eyes. METHODS: This prospective cross-sectional study included 31 patients with unilateral PES and 40 control participants...
June 21, 2018: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
Massimiliano Calabrese
Multiple sclerosis (MS) is a chronic autoimmune demyelinating disease of the central nervous system. Although inflammatory lesions of the white matter are the hallmark of the disease, several neuropathological and imaging studies have clearly confirmed that the grey matter is not spared by the disease. The most recent data suggest that a chronic meningeal inflammation leads to a subpial demyelination resulting in a surface-in gradient of neuronal loss. This article is protected by copyright. All rights reserved...
June 22, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Raheleh Norouzi, Zohreh Hojati, Moein Dehbashi
Interferon beta (IFNβ) is transiently expressed in response to viral infections and widely used to treat relapsing-remitting multiple sclerosis (MS). We introduced mutations in the IFNβ gene (in the 27th and 101st codons and in the Kozak sequence, and also deletion of 3' and 5' unstable, untranslated region, UTR) with the aim of increasing the expression of IFNβ. Computational analyses of mutant and wild-type RNAs and proteins of IFNβ by RNAfold, ASAView, HOPE and Ramachandran plot, and iStable web servers showed that the mutations could decrease RNA stability, protein solvent accessibility, and protein stability but could not change correct folding...
June 21, 2018: Applied Microbiology and Biotechnology
Manuel Rubio-Rivas, Xavier Corbella, Melany Pestaña-Fernández, Carles Tolosa-Vilella, Alfredo Guillen-Del Castillo, Dolores Colunga-Argüelles, Luis Trapiella-Martínez, Nerea Iniesta-Arandia, María Jesús Castillo-Palma, Luis Sáez-Comet, María Victoria Egurbide-Arberas, Norberto Ortego-Centeno, Mayka Freire, Jose Antonio Vargas-Hitos, Juan José Ríos-Blanco, Jose Antonio Todolí-Parra, Mónica Rodríguez-Carballeira, Adela Marín-Ballvé, Pablo Segovia-Alonso, Xavier Pla-Salas, Ana Belén Madroñero-Vuelta, Manuel Ruiz-Muñoz, Vicent Fonollosa-Pla, Carmen Pilar Simeón-Aznar
When first published, this article inadvertently listed the RESCLE investigators individually within the author list. The names should instead have been listed within the Acknowledgements section only. The corrected author list and the updated Acknowledgements section are presented in this Correction.
June 21, 2018: Clinical Rheumatology
Wenguang Chang, Junfang Teng
Demyelinating diseases, such as multiple sclerosis, are known to result from acute or chronic injury to the myelin sheath and inadequate remyelination. Its underlying molecular mechanisms, however, remain unclear. The transcription factor prospero homeobox 1 (Prox1) plays an essential role during embryonic development of the central nervous system and cell differentiation. Thus, we aimed to investigate the role of Prox1 in the survival and differentiation of oligodendrocytes. Cell viability was measured by MTT assay...
June 20, 2018: Acta Biochimica et Biophysica Sinica
L L Ji, H Wang, X H Zhang, Z L Zhang
OBJECTIVE: To evaluate the correlation between nailfold capillaroscopic (NC) findings and the presence of interstitial lung disease (ILD) in systemic sclerosis (SSc) patients. METHODS: We retrospectively involved 71 SSc patients, 45 patients with ILD. NC was performed in all the patients according to the standard method. The NC findings were semi-quantitatively scored, including enlarged and giant capillaries, hemorrhages, loss of capillaries, avascular areas, ramified/bushy capillaries and disorganization of the vascular array...
June 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Shira Dishon, Adi Schumacher, Joseph Fanous, Alaa Talhami, Ibrahim Kassis, Dimitrios Karussis, Chaim Gilon, Amnon Hoffman, Gabriel Nussbaum
MyD88 is a cytoplasmic adaptor protein that plays a central role in signaling downstream of the TLRs and the IL1R superfamily. We previously demonstrated that MyD88 plays a critical role in EAE, the murine model of multiple sclerosis, and showed that the MyD88 BB-loop decoy peptide RDVLPGT ameliorates EAE. We now designed and screened a library of backbone cyclized peptides based on the linear BB loop peptide, to identify a metabolically stable inhibitor of MyD88 that retains the binding properties of the linear peptide...
June 21, 2018: Scientific Reports
Z Hosseini, J Matusinec, D A Rudko, J Liu, B Y M Kwan, F Salehi, M Sharma, M Kremenchutzky, R S Menon, M Drangova
BACKGROUND AND PURPOSE: Recently published North American Imaging in Multiple Sclerosis guidelines call for derivation of a specific radiologic definition of MS WM lesions and mimics. The purpose of this study was to use SWI and magnetization-prepared FLAIR images for sensitive differentiation of MS from benign WM lesions using the morphologic characteristics of WM lesions. MATERIALS AND METHODS: Seventeen patients with relapsing-remitting MS and 18 healthy control subjects were enrolled retrospectively...
June 21, 2018: AJNR. American Journal of Neuroradiology
Y Liu, G-M-Y Zhang, X Peng, Y Wen, W Ye, K Zheng, X Li, H Sun, L Chen
AIM: To evaluate renal fibrosis in immunoglobulin A nephropathy (IgAN) using diffusion kurtosis imaging (DKI). MATERIALS AND METHODS: Twenty patients with biopsy-proven IgAN were enrolled. DKI was performed on a clinical 3 T magnetic resonance imaging (MRI) system, and region-of-interest measurements were conducted to determine mean kurtosis (K), mean diffusivity (D), and apparent diffusion coefficient (ADC) of the kidney cortex. Renal biopsy specimens were scored based on the severity of renal fibrosis...
June 18, 2018: Clinical Radiology
Tomonori Shibata, Eitaro Murakami, Kazuhiko Nakatani
Aberrant expansion of GGGGCC (G4C2) hexanucleotide repeat (HNR) in the first intron of C9ORF72 has been found in frontotemporal dementia and amyotrophic lateral sclerosis (FTD/ALD). The non-canonical DNA structures of the expanded repeats are causative to repeat instability leading to contraction and expansion. We demonstrate that 1,3-di(quinolin-2-yl)guanidine (DQG) binds to GGCCCC/GGCCCC (G2C4/G2C4) motif in double stranded DNA and also antisense G2C4 HNR DNA in C9ORF72. Large increase in the melting temperature of dsDNA containing the G2C4/G2C4 motif was confirmed by the binding of DQG...
June 18, 2018: Bioorganic & Medicinal Chemistry Letters
Ruth Ann Marrie, Randy Walld, James M Bolton, Jitender Sareen, Scott B Patten, Alexander Singer, Lisa M Lix, Carol A Hitchon, Renée El-Gabalawy, Alan Katz, John D Fisk, Charles N Bernstein
OBJECTIVE: We determined the association between any common mental disorder (CMD: depression, anxiety disorder, bipolar disorder) and mortality and suicide in three immune-mediated inflammatory diseases (IMID), inflammatory bowel disease (IBD), multiple sclerosis (MS) and rheumatoid arthritis (RA), versus age-, sex- and geographically-matched controls. METHODS: Using administrative data, we identified 28,384 IMID cases (IBD: 8695; MS: 5496; RA: 14,503) and 141,672 matched controls...
June 7, 2018: General Hospital Psychiatry
Julia Higelin, Alberto Catanese, Lena Luisa Semelink-Sedlacek, Sertap Oeztuerk, Anne-Kathrin Lutz, Julia Bausinger, Gotthold Barbi, Günter Speit, Peter M Andersen, Albert C Ludolph, Maria Demestre, Tobias M Boeckers
Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-function mutations in NEK1 (NIMA-related kinase 1) have also been recently found to cause ALS. NEK1 codes for a multifunctional protein, crucially involved in mitotic checkpoint control and DDR. To resolve pathological alterations associated with NEK1 mutation, we compared hiPSC-derived motoneurons carrying a NEK1 mutation with mutant C9orf72 and wild type neurons at basal level and after DNA damage induction...
June 12, 2018: Stem Cell Research
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