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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/29054771/spinal-cavernous-angioma-associated-with-klippel-trenaunay-weber-syndrome-a-case-report-and-literature-review
#1
Kazunori Oda, Daijiro Morimoto, Kyongsong Kim, Kanako Yui, Takao Kitamura, Akio Morita
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital vascular disorder characterized by the classic triad of cutaneous nevi, venous varicosities, and osseous and soft tissue hypertrophy of the affected limb. Various vascular anomalies of the central nervous system have also been described in patients with this syndrome. The English-language literature to date contains six reports of associations between KTWS and spinal cord cavernous angioma (CA), but the management of these patients has not been well described...
October 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29054740/cordycepin-inhibits-lps-induced-acute-lung-injury-by-inhibiting-inflammation-and-oxidative-stress
#2
Jiaji Lei, Youlei Wei, Pengcheng Song, Yongchao Li, Tianze Zhang, Qingjiang Feng, Guangquan Xu
Acute lung injury (ALI) is a common severe clinical syndrome in intensive care unit. Inflammation has been reported to play a critical role in the development of ALI. Cordycepin, an active component isolated from Cordyceps militaris, has been reported to have anti-inflammatory effects. However, the anti-inflammatory effects of cordycepin on LPS-induced ALI remain unclear. Therefore, in the present study, we assessed whether cordycepin could attenuate ALI induced by LPS. The mice were conditioned with cordycepin 1h before intranasal instillation of LPS...
October 17, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29052831/klingsor-syndrome-a-rare-surgical-emergency
#3
Gaurav Aggarwal, Samiran D Adhikary
Klingsor syndrome or self-Inflicted traumatic penile amputation is a rare clinical entity that is associated with psychiatric disorders, command hallucinations, religious preoccupations, substance abuse, and isolation from or neglect by society. In addition to being infrequently encountered, it is a rare surgical emergency, with paucity of data on appropriate and timely management to ensure optimal functional outcomes. We report the case of a 25-year-old unmarried male who inflicted this injury upon himself in a fit of paranoia as a way to expiate his sins and earn solace from God...
September 2017: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29051993/treatment-related-sinusoidal-obstruction-syndrome-in-children-with-de-novo-acute-lymphoblastic-leukemia-during-intensification
#4
Casey L McAtee, Netta Schneller, Julienne Brackett, M Brooke Bernhardt, Eric S Schafer
PURPOSE: Sinusoidal obstruction syndrome (SOS), also known as veno-occlusive disease, has been described following treatment of acute lymphoblastic leukemia (ALL) with the anti-metabolite 6-thioguanine (6-TG). Previous studies incorporating daily 6-TG into maintenance chemotherapy demonstrated a high incidence of SOS, typically presenting after prolonged exposures to 6-TG. 6-TG continues to be used as a single, 14-day burst during intensification; however, SOS associated with brief courses of 6-TG is poorly described...
October 19, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/29051829/the-efficacy-of-cladribine-tablets-in-cis-patients-retrospectively-assigned-the-diagnosis-of-ms-using-modern-criteria-results-from-the-oracle-ms-study
#5
Mark S Freedman, Thomas P Leist, Giancarlo Comi, Bruce Ac Cree, Patricia K Coyle, Hans-Peter Hartung, Patrick Vermersch, Doris Damian, Fernando Dangond
BACKGROUND: Multiple sclerosis (MS) diagnostic criteria have changed since the ORACLE-MS study was conducted; 223 of 616 patients (36.2%) would have met the diagnosis of MS vs clinically isolated syndrome (CIS) using the newer criteria. OBJECTIVE: The objective of this paper is to assess the effect of cladribine tablets in patients with a first clinical demyelinating attack fulfilling newer criteria (McDonald 2010) for MS vs CIS. METHODS: A post hoc analysis for subgroups of patients retrospectively classified as fulfilling or not fulfilling newer criteria at the first clinical demyelinating attack was conducted...
October 2017: Multiple Sclerosis Journal—Experimental, Translational and Clinical
https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#6
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049805/health-related-quality-of-life-in-pediatric-patients-with-demyelinating-diseases-relevance-of-disability-relapsing-presentation-and-fatigue
#7
Mariella M Self, Aaron Fobian, Katherine Cutitta, Arianne Wallace, Timothy E Lotze
Decreased health-related quality of life (HRQOL) in pediatric patients with multiple sclerosis is established, but little research has examined HRQOL in the broader pediatric demyelinating disease population, and predictors of reduced HRQOL are largely unexplored. We sought to (1) compare generic HRQOL and fatigue of pediatric patients with relapsing (i.e., multiple sclerosis and neuromyelitis optica) versus monophasic demyelinating diseases (i.e., acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, clinically isolated syndrome) and (2) examine the extent to which disability, relapsing disease, and fatigue predict HRQOL...
July 21, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29047350/sequence-variants-identification-at-the-kcnq1ot1-tss-differentially-methylated-region-in-isolated-omphalocele-cases
#8
Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
BACKGROUND: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29045953/-detection-of-large-deletions-in-x-linked-alport-syndrome-using-competitive-multiplex-fluorescence-polymerase-chain-reaction
#9
F Wang, Y Q Zhang, J Ding, L X Yu
OBJECTIVE: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. METHODS: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type IV collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type IV collagen α5 chain in the glomerular basement membrane and Bowman's capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045421/enlarged-virchow-robin-spaces-associate-with-cognitive-decline-in-multiple-sclerosis
#10
Alice Favaretto, Andrea Lazzarotto, Alice Riccardi, Stefano Pravato, Monica Margoni, Francesco Causin, Maria Giulia Anglani, Dario Seppi, Davide Poggiali, Paolo Gallo
The clinical significance of Virchow Robin spaces (VRS) in inflammatory brain disorders, especially in multiple sclerosis (MS), is still undefined. We analysed enlarged VRS (eVRS) by means of phase sensitive inversion recovery (PSIR) MRI sequence and investigated their association with inflammation or brain atrophy, and to clinical or physical disability. Forty-three MS patients (21 clinically isolated syndrome suggestive of MS [CIS], 15 RRMS, 7 progressive [PMS]) and 10 healthy controls (HC) were studied. 3DT1, 3DFLAIR and 2DPSIR images were obtained with a 3T MRI scanner...
2017: PloS One
https://www.readbyqxmd.com/read/29044226/bone-marrow-transplant-induced-alterations-in-notch-signaling-promote-pathologic-th17-responses-to-%C3%AE-herpesvirus-infection
#11
S J Gurczynski, X Zhou, M Flaherty, C A Wilke, B B Moore
Idiopathic pneumonia syndrome (IPS) is a common, often fatal, complication following hematopoietic stem cell transplantation (HSCT) characterized by severe pneumonitis and interstitial fibrosis. Fully reconstituted syngeneic bone marrow transplant (BMT) mice infected with murine γ-herpesvirus-68 develop interleukin-17 (IL-17)-driven pneumonitis and fibrosis, which mimics clinical manifestations of IPS. We found CD103+ and CD11b+ dendritic cells (DCs) are selectively deficient for the Notch ligand, DLL4, following BMT and CD4+ T cells isolated from lungs and spleens of infected BMT mice display Notch signaling defects...
October 18, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/29044041/viral-haemorrhagic-septicaemia-virus-vhsv-id-infections-are-detected-more-consistently-using-syndromic-vs-active-surveillance
#12
Pia Vennerström, Elina Välimäki, Tapani Lyytikäinen, Maria Hautaniemi, Gabriele Vidgren, Perttu Koski, Anna-Maija Virtala
The eradication of viral haemorrhagic septicaemia virus (VHSV Id) from Finnish brackish-water rainbow trout Oncorhynchus mykiss farms located in the restriction zone in the Province of Åland, Baltic Sea, failed several times in the 2000s. The official surveillance programme was often unable to find VHSV-positive populations, leading to the misbelief in the fish farming industry that virus eradication could be achieved. The ability of 3 other surveillance programmes to detect infected fish populations was compared with the official programme...
October 18, 2017: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/29042668/signalling-mechanisms-in-paf-induced-intestinal-failure
#13
Ingmar Lautenschläger, Yuk Lung Wong, Jürgen Sarau, Torsten Goldmann, Karina Zitta, Martin Albrecht, Inéz Frerichs, Norbert Weiler, Stefan Uhlig
Capillary leakage syndrome, vasomotor disturbances and gut atony are common clinical problems in intensive care medicine. Various inflammatory mediators and signalling pathways are involved in these pathophysiological alterations among them platelet-activating factor (PAF). The related signalling mechanisms of the PAF-induced dysfunctions are only poorly understood. Here we used the model of the isolated perfused rat small intestine to analyse the role of calcium (using calcium deprivation, IP-receptor blockade (2-APB)), cAMP (PDE-inhibition plus AC activator), myosin light chain kinase (inhibitor ML-7) and Rho-kinase (inhibitor Y27632) in the following PAF-induced malfunctions: vasoconstriction, capillary and mucosal leakage, oedema formation, malabsorption and atony...
October 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29040582/cdc73-related-disorders-clinical-manifestations-and-case-detection-in-primary-hyperparathyroidism
#14
Karin van der Tuin, Carli M J Tops, Muriel A Adank, Jan-Maarten Cobben, Neveen A T Hamdy, Marjolijn C Jongmans, Fred H Menko, Bernadette P M van Nesselrooij, Romana T Netea-Maier, Jan C Oosterwijk, Gerlof D Valk, Bruce H R Wolffenbuttel, Frederik J Hes, Hans Morreau
Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT), and less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series. Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case detection in pHPT. Design: Nationwide retrospective Dutch cohort study...
October 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29038059/first-isolation-and-characterization-of-the-pathogenic-aeromonas-veronii-bv-veronii-associated-with-ulcerative-syndrome-in-the-indigenous-pelophylax-ridibundus-of-al-ahsaa-saudi-arabia
#15
Ashraf Y Z Khalifa, Gamal Bekhet
Virulent microbial pathogen infections are the main cause for amphibian decline worldwide. In the present study, a bacterial strain named RDL-2, which was isolated from the skin of infected Pelophylax ridibundus larvae, was cultured and then phenotypically and biochemically characterized using scanning electron microscopic observations and the API20E strip and Biolog Gen III MicroPlate system. The 16S rRNA gene sequence of this strain was also obtained and used in strain identification and phylogenetic analysis...
October 13, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29037346/contemporary-outcomes-of-elective-iliocaval-and-infrainguinal-venous-intervention-for-post-thrombotic-chronic-venous-occlusive-disease
#16
Johnathon C Rollo, Steven M Farley, Juan Carlos Jimenez, Karen Woo, Peter F Lawrence, Brian G DeRubertis
BACKGROUND: Patients with iliofemoral deep venous thrombosis are at risk for development of post-thrombotic syndrome. Iliac vein stenting has been shown to significantly improve clinical outcomes in patients with venous outflow obstruction, although many studies include a heterogeneous population with several different venous pathologic processes. Our objective was to evaluate the results of iliocaval and infrainguinal venous intervention for venous outflow obstruction due to post-thrombotic chronic venous occlusive disease...
November 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29036988/-characteristics-of-molecular-typing-and-drug-resistance-of-67-salmonella-paratyphi-a-isolated-in-zhengzhou-from-2013-to-2015
#17
J Y Zhao, S Y Zhang, B F Zhang, Y J Mu, J Su, X Y Huang, B L Xu
Objective: To investigate the antimicrobial resistance and pulsed field gel electrophoresis (PFGE) patterns of S.paratyphi A strains in Zhengzhou city isolated from sentinel hospitals in 2013-2015. Methods: According to Salmonella molecular typing and K-B drug susceptibility testing method published by international PulseNet bacterial infectious disease monitoring network and USA Clinical and Laboratory Standards Institute (CLSI2015), we analyzed drug sensitivity and PFGE molecular characteristics of 67 S.paratyphi A strains(11 strains in 2013, 7 strains in 2014, 49 strains in 2015) isolated from blood and stool samples in two sentinel hospitals of fever with rash syndrome surveillance system established in Zhengzhou city in 2013-2015...
October 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29036805/determining-the-igm-and-igg-antibodies-titer-against-hsv1-hsv2-and-cmv-in-the-serum-of-schizophrenia-patients
#18
Masome Mohagheghi, Mohammad Yousef Alikhani, Mohammad Taheri, Mohammad Mahdi Eftekharian
Schizophrenia is a destructive clinical syndrome with diverse mental pathologies. Different mechanisms and factors have a role in this disease. A possible mechanism is that teratogenic viruses cause brain changes and results in the disease appearance. The schizophrenia patients were diagnosed by psychologists and with the consent of patients, five CC of venous blood was drawn. Than Serum samples were isolated and immunoglobulin M (IgM) and immunoglobulin G (IgG) antibodies against herpes simplex virus-1 (HSV-1), herpes simplex virus-2 (HSV-2) and cytomegalovirus (CMV) were quantified by ELISA sandwich kit...
September 8, 2017: Human Antibodies
https://www.readbyqxmd.com/read/29036195/mutational-and-large-deletion-study-of-genes-implicated-in-hereditary-forms-of-primary-hyperparathyroidism-and-correlation-with-clinical-features
#19
Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...
2017: PloS One
https://www.readbyqxmd.com/read/29033382/clinical-pathological-correlations-in-three-patients-with-fibrodysplasia-ossificans-progressiva
#20
Kelly L Wentworth, Katherine Bigay, Tea V Chan, Jennifer P Ho, Blanca M Morales, Joseph Connor, Erin Brooks, M Shahriar Salamat, Henry Charles Sanchez, Geoffrey Wool, Robert J Pignolo, Frederick S Kaplan, Edward C Hsiao
OBJECTIVE: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder in which heterotopic bone forms in the soft tissues. This often occurs in response to injury or inflammation, leading to joint immobilization and significant disability. There are currently no definitive treatment options for this devastating disease. Although the most dramatic phenotype in FOP is the episodic and progressive heterotopic ossification, patients report a number of symptoms that affect other organ systems...
October 12, 2017: Bone
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