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https://www.readbyqxmd.com/read/29668094/updates-in-lichen-sclerosis-british-association-of-dermatologists-guidelines-for-the-management-of-lichen-sclerosus-2018
#1
EDITORIAL
R Akel, C Fuller
No abstract text is available yet for this article.
April 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29667789/updates-and-controversies-in-the-management-of-acute-optic-neuritis
#2
Ethan Meltzer, Sashank Prasad
Optic neuritis remains a common diagnosis with controversial management. Although typical optic neuritis is often associated with "good" recovery of visual acuity, patients are often left with persistent impairments of contrast sensitivity, color vision, and visual field. These permanent visual deficits correlate with structural injury to the anterior visual pathway and are closely linked to visual quality of life. High dose corticosteroids are commonly used for patients with acute optic neuritis...
April 18, 2018: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29667474/long-term-follow-up-of-finger-passive-range-of-motion-in-japanese-systemic-sclerosis-patients-treated-with-self-administered-stretching
#3
Naoki Mugii, Takashi Matsushita, Sachie Oohata, Hirokazu Okita, Tetsutarou Yahata, Fujiko Someya, Minoru Hasegawa, Manabu Fujimoto, Kazuhiko Takehara, Yasuhito Hamaguchi
OBJECTIVE: Severe skin sclerosis in patients with systemic sclerosis (SSc) can result in a loss of hand function. The aim of this study is to examine the long-term changes of finger passive range of motion (ROM) in Japanese SSc patients treated with self-administered stretching. METHODS: This is a single center, retrospective, observational cohort study. Forty-three Japanese patients with SSc were given instructions on self-administered stretching. ROM was assessed using a goniometer on their first visit and after 1 year, 3 years, 5 years, and 9 years...
April 18, 2018: Modern Rheumatology
https://www.readbyqxmd.com/read/29667443/implications-of-structural-and-functional-brain-changes-in-amyotrophic-lateral-sclerosis
#4
Thanuja Dharmadasa, William Huynh, Jun Tsugawa, Yoshimitsu Shimatani, Yan Ma, Matthew C Kiernan
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes progressive muscle weakness and disability, eventually leading to death. Heterogeneity of disease has become a major barrier to understanding key clinical questions such as prognosis and disease spread, and has disadvantaged clinical trials in search of therapeutic intervention. Patterns of disease have been explored through recent advances in neuroimaging, elucidating structural, molecular and functional changes. Unique brain signatures have emerged that have lent a greater understanding of critical disease mechanisms, offering opportunities to improve diagnosis, guide prognosis, and establish candidate biomarkers to direct future therapeutic strategies...
April 19, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29667130/beneficial-effects-of-the-calcium-channel-blocker-ctk-01512-2-in-a-mouse-model-of-multiple-sclerosis
#5
Rodrigo B M Silva, Samuel Greggio, Gianina T Venturin, Jaderson C da Costa, Marcus V Gomez, Maria M Campos
Voltage-gated calcium channels (VGCCs) play a critical role in neuroinflammatory diseases, such as multiple sclerosis (MS). CTK 01512-2 is a recombinant version of the peptide Phα1β derived from the spider Phoneutria nigriventer, which inhibits N-type VGCC/TRPA1-mediated calcium influx. We investigated the effects of this molecule in the mouse model of experimental autoimmune encephalomyelitis (EAE). The effects of CTK 01512-2 were compared to those displayed by ziconotide-a selective N-type VGCC blocker clinically used for chronic pain-and fingolimod-a drug employed for MS treatment...
April 17, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29666985/induction-of-disease-remission-with-one-cycle-of-alemtuzumab-in-relapsing-remitting-ms
#6
Alexandra S Kocsik, David E Klein, Maryana Liedke, Ulrike W Kaunzner, Nancy M Nealon, Susan A Gauthier, Timothy Vartanian, Jai S Perumal
OBJECTIVE: To investigate a single-course treatment with alemtuzumab in patients with relapsing-remitting multiple sclerosis. METHODS: We performed a retrospective chart review of all patients diagnosed with RRMS who were treated with alemtuzumab at our MS center and who had at least 12 month follow-up since the first dose. Data on radiological and clinical relapse were collected for the 2 years prior to patients' first dose of alemtuzumab and were tracked until the time of analysis...
April 17, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29666741/a-novel-mutation-in-tsc2-gene-a-34-year-old-female-with-pulmonary-lymphangioleiomyomatosis-with-concomitant-hepatic-lesions
#7
Mehdi Nadiri, Mortaza Raeisi, Seyed Ali Mousavi Aghdas
Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in reproductive age. Different mutations in TSC1 and TSC2 genes have been reported in the literature. Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease...
2018: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29666705/the-role-of-moderate-aerobic-exercise-as-determined-by-cardiopulmonary-exercise-testing-in-als
#8
Anna Caroline Marques Braga, Anabela Pinto, Susana Pinto, Mamede de Carvalho
Introduction: The efficacy of cardiopulmonary exercise testing (CPET) to determining exercise intensity has not been established in Amyotrophic Lateral Sclerosis (ALS). We studied this intervention. Methods: We included 48 ALS patients randomized in 2 groups: G1 ( n = 24), exercise intensity leveled by CPET; G2 ( n = 24), standard care limited by fatigue, during 6 months. ALS functional scale (ALSFRS-R) and forced vital capacity (FVC) were performed every 3 months; CPET was done at admission ( T 1) and 6 months later ( T 2)...
2018: Neurology Research International
https://www.readbyqxmd.com/read/29666638/from-localized-scleroderma-to-systemic-sclerosis-coexistence-or-possible-evolution
#9
Giuggioli Dilia, Colaci Michele, Cocchiara Emanuele, Spinella Amelia, Lumetti Federica, Ferri Clodoveo
Background: Systemic sclerosis (SSc) and localized scleroderma (LoS) are two different diseases that may share some features. We evaluated the relationship between SSc and LoS in our case series of SSc patients. Methods: We analysed the clinical records of 330 SSc patients, in order to find the eventual occurrence of both the two diseases. Results: Eight (2.4%) female patients presented both the two diagnoses in their clinical histories...
2018: Dermatology Research and Practice
https://www.readbyqxmd.com/read/29666294/laryngeal-responses-to-mechanically-assisted-cough-in-progressing-amyotrophic-lateral-sclerosis
#10
Tiina M Andersen, Astrid Sandnes, Ove Fondenes, Roy M Nilsen, Ole-Bjørn Tysnes, John-Helge Heimdal, Hege H Clemm, Thomas Halvorsen, Maria Vollsœter, Ola D Røksund
BACKGROUND: Respiratory complications represent the major cause of death in amyotrophic lateral sclerosis (ALS). Noninvasive respiratory support is the mainstay therapy, but treatment becomes challenging as the disease progresses, possibly due to a malfunctioning larynx, which is the entrance to the airways. We studied laryngeal response patterns to mechanically assisted cough (mechanical insufflation-exsufflation) as ALS progresses. METHODS: This prospective longitudinal study of 13 consecutively included subjects with ALS were followed up during 2011-2016 with repeated tests of lung function, neurological status, and laryngeal responses to mechanical insufflation-exsufflation using video-recorded flexible transnasal fiberoptic laryngoscopy...
April 17, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29666281/pathogenic-effects-of-ifit2-and-interferon-%C3%AE-during-fatal-systemic-candida-albicans-infection
#11
Marcin Stawowczyk, Shamoon Naseem, Valeria Montoya, Darren P Baker, James Konopka, Nancy C Reich
A balanced immune response to infection is essential to prevent the pathology and tissue damage that can occur from an unregulated or hyperactive host defense. Interferons (IFNs) are critical mediators of the innate defense to infection, and in this study we evaluated the contribution of a specific gene coding for IFIT2 induced by type I IFNs in a murine model of disseminated Candida albicans Invasive candidiasis is a frequent challenge during immunosuppression or surgical medical interventions, and C. albicans is a common culprit that leads to high rates of mortality...
April 17, 2018: MBio
https://www.readbyqxmd.com/read/29666246/large-sod1-aggregates-unlike-trimeric-sod1-do-not-impact-cell-viability-in-a-model-of-amyotrophic-lateral-sclerosis
#12
Cheng Zhu, Matthew V Beck, Jack D Griffith, Mohanish Deshmukh, Nikolay V Dokholyan
Aberrant accumulation of misfolded Cu, Zn superoxide dismutase (SOD1) is a hallmark of SOD1-associated amyotrophic lateral sclerosis (ALS), an invariably fatal neurodegenerative disease. While recent discovery of nonnative trimeric SOD1-associated neurotoxicity has suggested a potential pathway for motor neuron impairment, it is yet unknown whether large, insoluble aggregates are cytotoxic. Here we designed SOD1 mutations that specifically stabilize either the fibrillar form or the trimeric state of SOD1. The designed mutants display elevated populations of fibrils or trimers correspondingly, as demonstrated by gel filtration chromatography and electron microscopy...
April 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29666207/split-hand-muscle-echo-intensity-index-as-a-reliable-imaging-marker-for-differential-diagnosis-of-amyotrophic-lateral-sclerosis
#13
Hung Youl Seok, Jinseok Park, Yoo Hwan Kim, Ki-Wook Oh, Seung Hyun Kim, Byung-Jo Kim
OBJECTIVE: The objective of this study was to investigate the usefulness of muscle ultrasound in evaluating dissociated small hand muscle atrophy, termed 'split hand', and its feasibility in the diagnosis of amyotrophic lateral sclerosis (ALS). METHODS: Forty-four patients with ALS, 18 normal subjects and 9 patients with other neuromuscular disorders were included in this study. The hand muscles were divided into three regions, the median-innervated lateral hand muscle group (ML), the ulnar-innervated lateral hand muscle (UL) and the ulnar-innervated medial hand muscle (UM), and the muscle echo intensity (EI) and compound muscle action potential (CMAP) were measured...
April 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29666205/human-cerebral-evolution-and-the-clinical-syndrome-of-amyotrophic-lateral-sclerosis
#14
Robert D Henderson, Fleur C Garton, Matthew C Kiernan, Martin R Turner, Andrew Eisen
No abstract text is available yet for this article.
April 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29666144/sporadic-amyotrophic-lateral-sclerosis-sals-skeletal-muscle-response-to-cerebrospinal-fluid-from-sals-patients-in-a-rat-model
#15
Shruthi Shanmukha, Gayathri Narayanappa, Atchayaram Nalini, Phalguni Anand Alladi, Trichur R Raju
Skeletal muscle atrophy is the most prominent feature of amyotrophic lateral sclerosis (ALS), an adult-onset neurodegenerative disease of motor neurons. However, the contribution of skeletal muscle to disease progression remains elusive. Our previous studies have shown that intrathecal injection of cerebrospinal fluid from sporadic ALS patients (ALS-CSF) induces several degenerative changes in motor neurons and glia of neonatal rats. Here, we describe various pathologic events in the rat extensor digitorum longus muscle following intrathecal injection of ALS-CSF...
April 16, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29665996/analysis-of-atxn2-trinucleotide-repeats-in-korean-patients-with-amyotrophic-lateral-sclerosis
#16
Young-Eun Kim, Ki-Wook Oh, Min-Young Noh, Jinseok Park, Hee-Jung Kim, Jong Eun Park, Chang-Seok Ki, Seung Hyun Kim
ATXN2 intermediate-length trinucleotide repeat expansions have been reported as a risk factor for amyotrophic lateral sclerosis (ALS) in various ethnicities. We tried to confirm this finding in Korean patients with ALS by screening ATXN2 cytosine-adenine-guanine nucleotide sequences (CAG) repeat lengths in 464 unrelated ALS patients and 703 controls. The most common and the highest CAG repeat lengths in the controls were 22 and 28, respectively, whereas those in ALS patients were 22 and 33, respectively. The frequency of CAG repeat lengths of 30 or more was significantly different between the 2 groups after Bonferroni correction (1...
March 23, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29665816/selective-localization-of-igg-from-cerebrospinal-fluid-to-brain-parenchyma
#17
Marlene Thorsen Mørch, Sofie Forsberg Sørensen, Reza Khorooshi, Nasrin Asgari, Trevor Owens
BACKGROUND: Encounter of autoantibodies with specific antigens can lead to hypersensitivity reactions and pathology. In multiple sclerosis and neuromyelitis optica spectrum disease (NMOSD), immunoglobulin-G (IgG) deposition has been observed in pathological lesions in the central nervous system. The paradigmatic autoantibodies in NMOSD are specific for the water channel aquaporin-4, localized to astrocytic end-feet at the blood-brain barrier and ependymal cells at the cerebrospinal fluid-brain barrier...
April 17, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29665800/mda-5-associated-rapidly-progressive-interstitial-lung-disease-with-recurrent-pneumothoraces-a-case-report
#18
Safi Alqatari, Peter Riddell, Sinead Harney, Michael Henry, Grainne Murphy
BACKGROUND: Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific antibodies could be negative, but with high clinical suspicion, myositis associated antibodies should be ordered. Anti-MDA-5 antibodies was reported in literature to be associated with severe and rapidly progressive interstitial lung disease, with few case reports of pneumothorax and/or pneumomediastinum...
April 17, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29665735/corrigendum
#19
(no author information available yet)
Shinoda K, Matsushita T, Nakamura Y, et al. HLA-DRB1*04:05 allele is associated with intracortical lesions on three-dimensional double inversion recovery images in Japanese patients with multiple sclerosis. Mult Scler. Epub ahead of print 5 May 2017. DOI: 10.1177/1352458517707067.
April 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29665426/human-papillomavirus-vaccine-and-demyelinating-diseases-a-systematic-review-and-meta-analysis
#20
Julie Mouchet, Francesco Salvo, Emanuel Raschi, Elisabetta Poluzzi, Ippazio Cosimo Antonazzo, Fabrizio De Ponti, Bernard Bégaud
BACKGROUND: Approved in 2006, human papillomavirus (HPV) vaccines were initially targeted for girls aged 9-14 years. Although the safety of these vaccines has been monitored through post-licensure surveillance programmes, cases of neurological events have been reported worldwide. PURPOSE: The present study aimed to assess the risk of developing demyelination after HPV immunization by meta-analysing risk estimates from pharmacoepidemiologic studies. DATA SOURCES: A systematic review was conducted in Medline, Embase, ISI Web of Science and the Cochrane Library from inception to 10 May 2017, without language restriction...
April 14, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
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