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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/28221206/significance-of-new-q-waves-and-their-location-in-postoperative-ecgs-after-elective-on-pump-cardiac-surgery-an-observational-cohort-study
#1
Eckhard Mauermann, Daniel Bolliger, Jens Fassl, Martin Grapow, Esther E Seeberger, Manfred D Seeberger, Miodrag Filipovic, Giovanna A L L Buse
BACKGROUND: The clinical significance of new pathological Q waves after on-pump cardiac surgery is uncertain. OBJECTIVES: To determine whether or not either the occurrence per se or the location of new pathological Q waves after on-pump cardiac surgery is associated with 12-month, all-cause mortality and/or major adverse cardiac events (MACEs). DESIGN: Observational cohort study. SETTING: Single university hospital from January 2007 to October 2010...
February 17, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28220082/synaptic-and-neuronal-autoantibody-associated-psychiatric-syndromes-controversies-and-hypotheses
#2
Adam Al-Diwani, Thomas A Pollak, Alexander E Langford, Belinda R Lennox
Autoimmune encephalitis (AE) mediated by antibodies against synaptic and neuronal surface targets frequently presents with a psychiatric syndrome. In these patients, removal of autoantibodies treats the disease and outcomes are closely linked to early intervention. The discovery of these autoantibodies in isolated psychiatric syndromes has raised the possibility that these patients may derive similar benefits from immunotherapy, a potentially transformational approach to the treatment of mental illness. Although open-label case series suggest impressive therapeutic outcomes, the pathological relevance of these autoantibodies outside of canonical presentations is debated...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28219569/intrabronchial-pneumonectomy-for-vanishing%C3%A2-lung-syndrome-first-reported-case
#3
Nicholas Ballay, Brent Soder, Jeremiah Smith, Ashley Miller, James R Headrick
Vanishing lung syndrome is a clinical presentation of giant bullous emphysema associated with significant morbidity and mortality. We present a case of a 50-year-old white woman with vanishing lung syndrome who presented with a spontaneous secondary pneumothorax and an uncontrolled bronchopleural fistula. The large bronchopleural fistula was initially controlled with a double-lumen endotracheal tube and a tube thoracostomy. After surgical efforts failed, complete left lung isolation was performed with multiple intrabronchial valves...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28216434/human-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-via-btk
#4
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor, NACHT, LRR and PYD domains-containing protein 3 (NLRP3), and Bruton's tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively: NLRP3 senses exogenous and endogenous insults leading to inflammasome activation, which occurs spontaneously in Muckle-Wells Syndrome (MWS); BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified and clinically promising pharmacological targeting strategies remain elusive...
February 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28214485/outcome-of-peripheral-venous-reconstructions-during-tumor-resection
#5
Philip Y Sun, Mark D Fleming, Kendall Stauffer, Manju Kalra, Gustavo Oderich, Thomas Bower, Peter Gloviczki, Randall R DeMartino
OBJECTIVE: Peripheral venous reconstruction surgery may be necessary for appropriate oncologic resection; however, the operative approach and surgical outcomes are not well described. We report our experience with these complex reconstructions to identify best practice. METHODS: We retrospectively reviewed all adult patients who underwent peripheral vein reconstruction for tumor resection at Mayo Clinic, Rochester (2000-2015). Patients were classified into three subgroups by the location: iliac (IL), lower extremity (LE), and upper extremity (UE)...
March 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28214165/agenesis-of-the-corpus-callosum-and-aicardi-syndrome-a%C3%A2-neuroimaging-and-clinical-comparison
#6
T Govil-Dalela, A Kumar, R Agarwal, H T Chugani
BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females)...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28210943/faces-of-frailty-in-aging-with-hiv-infection
#7
REVIEW
Marion Thurn, Deborah R Gustafson
PURPOSE OF THE REVIEW: The number of adults who are aging successfully and have HIV infection is increasing. More effective antiretroviral therapy (ART) regimens are preventing individuals infected with HIV from reaching end stages of the HIV infection and developing AIDS (acquired immunodeficiency syndrome). However, even at lower viral loads, chronic HIV infection appears to have consequences on aging processes, including the development of frailty. RECENT FINDINGS: Frailty is a term used to describe vulnerability in aging...
February 16, 2017: Current HIV/AIDS Reports
https://www.readbyqxmd.com/read/28210273/isolated-ro52-antibodies-as-immunological-marker-of-a-mild-phenotype-of-undifferentiated-connective-tissue-diseases
#8
Ana Alonso-Larruga, Sagrario Bustabad, José Antonio Navarro-Gonzálvez, Beatriz Rodríguez-Lozano, Andrés Franco, Yvelise Barrios
The term undifferentiated connective tissue disease (UCTD) is used to describe undiagnosed patients that do not fulfill classification criteria for definite connective tissue disease (Systemic Lupus, Systemic Sclerosis, Sjögren Syndrome, and Dermatomyositis/Polymyositis). It is important to find serological markers as predictors of the evolution or severity of these diseases. The objective of this retrospective study was to investigate if there was a milder subgroup of UCTD with a special clinical profile consisting only in the presence of anti-Ro52 autoantibodies...
2017: International Journal of Rheumatology
https://www.readbyqxmd.com/read/28204945/spectrum-of-mutations-in-chinese-children-with-steroid-resistant-nephrotic-syndrome
#9
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt
BACKGROUND: The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity. METHODS: Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48...
February 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28203549/microbiological-and-clinical-characteristics-of-hypermucoviscous-klebsiella-pneumoniae-isolates-associated-with-invasive-infections-in-china
#10
Yinjuan Guo, Shanshan Wang, Lingling Zhan, Ye Jin, Jingjing Duan, Zhihao Hao, Jingnan Lv, Xiuqin Qi, Liang Chen, Barry N Kreiswirth, Liangxing Wang, Fangyou Yu
A distinctive syndrome caused by hypermucoviscous Klebsiella pneumoniae (HMKP) including pyogenic liver abscess (PLA) is now becoming a globally emerging disease. In the present study, 22.8% (84/369) of K. pneumoniae clinical isolates associated with various types of invasive infections were identified as HMKP, with 45.2% associated with PLA. Multivariate regression analysis showed that male patients with 41-50 years, PLA, diabetes mellitus, and hypertension were independent risk factors for HMKP infections...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28202861/hepatoid-adenocarcinoma-of-the-extrahepatic-bile-duct-in-a-patient-with-polysplenia-syndrome
#11
Kenji Yorita, Shiori Sasaki, Ai Kawada, Michiyo Okazaki, Hiromichi Yamai, Kunihisa Uchita, Shinichi Iwamura, Kimiko Nakatani, Satoshi Ito, Naoto Kuroda
Hepatoid adenocarcinoma (HAC) is a rare subtype of extrahepatic adenocarcinoma that is characterized by its morphological and functional similarities to hepatocellular carcinoma. We herein present a novel case of HAC arising from the extrahepatic bile duct in a 75-year-old Japanese woman with polysplenia syndrome. This is the second reported case of HAC arising from this site. The tumor induced jaundice and hemobilia. A total of four isolated intraductal polypoid masses of HAC were found. No recurrence was seen five months after surgery...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28202038/establishment-of-national-reference-for-bunyavirus-nucleic-acid-detection-kits-for-diagnosis-of-sfts-virus
#12
Xu Lu, Ling Wang, Dongting Bai, Yuhua Li
BACKGROUND: Severe fever with thrombocytopenia syndrome (SFTS) caused by SFTS virus (SFTSV) usually have a high fatality. At present no effective therapy or vaccine are available, so early diagnosis of SFTS is crucial to prevent and control SFTSV infection. This study aimed to establish a national reference for these diagnostic kits of SFTSV genome and make the diagnosis of the disease effective. METHODS: Six SFTSV strains isolated from different regions, and five relative viruses with similar clinical manifestations were selected as positive and negative references and assessed using real time quantitative PCR (q-PCR) using specific primers and probe and two commercial kits...
February 16, 2017: Virology Journal
https://www.readbyqxmd.com/read/28197023/genitourinary-sarcoidosis-an-essential-review-for-the-practicing-clinician
#13
REVIEW
Norman L Block, Bruce R Kava
INTRODUCTION: Sarcoidosis is a multisystem disease that commonly involves the lungs, but may also present with extrapulmonary manifestations. Genitourinary (GU) tract involvement has been traditionally thought to be rare, but that view may underestimate the true prevalence of the disease due to the often, silent presentation thereof. METHODS: The literature pertaining to sarcoidosis from the general systemic point of view, etiology and therapy and with regard to specific organs was reviewed by identifying key words in a PubMed search...
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#14
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28185617/mycobacterium-kansasii
#15
James C Johnston, Leslie Chiang, Kevin Elwood
The incidence of Mycobacterium kansasii varies widely over time and by region, but this organism remains one of the most clinically relevant isolated species of nontuberculous mycobacteria. In contrast to other common nontuberculous mycobacteria, M. kansasii is infrequently isolated from natural water sources or soil. The major reservoir appears to be tap water. Infection is likely acquired through the aerosol route, with low infectivity in regions of endemicity. Human-to-human transmission is thought not to occur...
January 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28182948/zika-virus-pathogenesis-and-tissue-tropism
#16
REVIEW
Jonathan J Miner, Michael S Diamond
Although Zika virus (ZIKV) was isolated approximately 70 years ago, few experimental studies had been published prior to 2016. The recent spread of ZIKV to countries in the Western Hemisphere is associated with reports of microcephaly, congenital malformations, and Guillain-Barré syndrome. This has resulted in ZIKV being declared a public health emergency and has greatly accelerated the pace of ZIKV research and discovery. Within a short time period, useful mouse and non-human primate disease models have been established, and pre-clinical evaluation of therapeutics and vaccines has begun...
February 8, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#17
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28178574/is-acne-a-sign-of-androgen-excess-disorder-or-not
#18
Gulsum Uysal, Yılmaz Sahin, Kursad Unluhizarci, Ayten Ferahbas, Semih Zeki Uludag, Ercan Aygen, Fahrettin Kelestimur
OBJECTIVE: Acne is not solely a cosmetic problem. The clinical importance of acne in the estimation of androgen excess disorders is controversial. Recently, the Amsterdam ESHRE/ASRM-sponsored third PCOS Consensus Workshop Group suggested that acne is not commonly associated with hyperandrogenemia and therefore should not be regarded as evidence of hyperandrogenemia. Our aim was to investigate whether acne is a sign of androgen excess disorder or not. STUDY DESIGN: This is a cross sectional study that was performed in a university hospital involving 207 women, aged between 18 and 45 years, suffering mainly from acne...
January 23, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28173990/acute-disseminated-encephalomyelitis-a-gray-distinction
#19
Amal Abu Libdeh, Howard P Goodkin, Denia Ramirez-Montealegre, J Nicholas Brenton
BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory acquired demyelinating syndrome predominantly affecting the white matter of the central nervous system. METHODS: We describe a three-year-old boy whose clinical presentation was suspicious for ADEM but whose initial imaging abnormalities were confined to the deep gray matter (without evidence of white matter involvement). His clinical course was fluctuating and repeat imaging one week after presentation demonstrated interval development of characteristic white matter lesions...
January 12, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28167940/narrowband-uvb-phototherapy-for-clinically-isolated-syndrome-a-trial-to-deliver-the-benefits-of-vitamin-d-and-other-uvb-induced-molecules
#20
Prue H Hart, Robyn M Lucas, David R Booth, William M Carroll, David Nolan, Judith M Cole, Anderson P Jones, Allan G Kermode
Low vitamin D and insufficient sun exposure are additive independent risk factors for the development of multiple sclerosis (MS). The usual measure of vitamin D status, serum 25-hydroxy vitamin D [25(OH)D], is also a marker of recent exposure to the UVB rays of sunshine. The main evidence for a protective effect for MS development of higher 25(OH)D comes from observational studies, but this study design cannot separate out whether 25(OH)D is acting as a marker of vitamin D status, sun exposure, or both. In light of a lack of definitive outcomes in MS patients after trials of vitamin D supplementation and the ability of narrowband UVB to induce vitamin D, as well as other immune-regulatory molecules in skin, the Phototherapy for Clinically Isolated Syndrome (PhoCIS) trial was established to investigate the benefits of narrowband UVB, in addition to supplemented vitamin D, on MS development in individuals with Clinically Isolated Syndrome...
2017: Frontiers in Immunology
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