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Evan's syndrome

K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Filiz Kizilirmak, Gultekin Gunhan Demir, Beytullah Cakal, Hüseyin Saffet Bekoz, Fatih Erkam Olgun
Evans syndrome (ES) is a rare hematological disease characterized by autoimmune hemolytic anemia, immune thrombocytopenia, and/or neutropenia, all of which may be seen simultaneously or subsequently. Thrombotic events in ES are uncommon. Furthermore, non-ST segment-elevation myocardial infarction (NSTEMI) during ES is a very rare condition. Here, we describe a case of a 69-year-old female patient presenting with NSTEMI and ES. Revascularization via percutaneous coronary intervention (PCI) was scheduled and performed...
September 2016: Indian Heart Journal
Thiago Almeida Pereira, Wing-Kin Syn, Fausto E L Pereira, José Roberto Lambertucci, William Evan Secor, Anna Mae Diehl
Schistosomiasis is a major cause of fibrosis and portal hypertension. The reason 4-10% of infected subjects develops hepatosplenic schistosomiasis remains unclear. Chronically infected male CBA/J mice reproduce the dichotomic forms of human schistosomiasis. Most mice (80%) develop moderate splenomegaly syndrome (similar to hepatointestinal disease in humans) and 20% present severe hypersplenomegaly syndrome (analogous to human hepatosplenic disease). We demonstrated that the profibrogenic molecule osteopontin discriminates between mice with severe and mild disease and could be a novel morbidity biomarker in murine and human schistosomiasis...
October 10, 2016: International Journal for Parasitology
Sangamesh Samarth, Kothiwale Veranna
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Eric Segal, Helio Pedro, Karen Valdez-Gonzalez, Sarah Parisotto, Felicia Gliksman, Stephen Thompson, Jomard Sabri, Evan Fertig
BACKGROUND: When no chromosomal variations are identified, patients with suspected genetic etiologies can be tested using next-generation sequencing utilizing epilepsy panels. The primary objective of this study was to analyze the diagnostic yield of next-generation sequencing epilepsy panels in medication-resistant epilepsy subjects with non-clinically significant comparative genomic hybridization microarray results. METHODS: We completed a single-center retrospective review of the diagnostic yield of next-generation sequencing epilepsy panels in medication-resistant epilepsy subjects aged 18 years or less who had non-clinically significant comparative genomic hybridization microarray results from January 2011 to December 2014...
July 1, 2016: Pediatric Neurology
Paul J Cocker, M Tremblay, S Kaur, Catharine A Winstanley
RATIONALE: Whilst dopamine agonist therapies can successfully manage the symptoms of diseases such as Parkinson's disease (PD), fibromyalgia and restless leg syndrome, they can also cause impulse control and addiction disorders such as gambling disorder (GD). These compulsive behaviours seriously undermine the utility of such treatments. OBJECTIVES: The objective of the study was to model this phenomenon using a rodent slot machine task (rSMT) in order to investigate the neurobiological basis underlying such behavioural changes...
October 6, 2016: Psychopharmacology
Megan C Schwarz, Marion Sourisseau, Michael M Espino, Essanna S Gray, Matthew T Chambers, Domenico Tortorella, Matthew J Evans
The recent Zika virus (ZIKV) outbreak has been linked to severe pathogenesis. Here, we report the construction of a plasmid carrying a cytomegalovirus (CMV) promoter-expressed prototype 1947 Uganda MR766 ZIKV cDNA that can initiate infection following direct plasmid DNA transfection of mammalian cells. Incorporation of a synthetic intron in the nonstructural protein 1 (NS1) region of the ZIKV polyprotein reduced viral cDNA-associated toxicity in bacteria. High levels of infectious virus were produced following transfection of the plasmid bearing the wild-type MR766 ZIKV genome, but not one with a disruption to the viral nonstructural protein 5 (NS5) polymerase active site...
September 2016: MSphere
Hani Bagheri, Chansonette Badduke, Ying Qiao, Rita Colnaghi, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Jiadi Wen, Robert S Wildin, Malgorzata J M Nowaczyk, Jennifer Eichmeyer, Anna Lehman, Bruno Maranda, Sally Martell, Xianghong Shan, Suzanne M E Lewis, Mark O'Driscoll, Cheryl Y Gregory-Evans, Evica Rajcan-Separovic
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however, the size of the deletions and their breakpoints vary, making it difficult to identify the candidate genes. Recent reports pointed to 4 genes (XPO1, USP34, BCL11A, and REL) that were included, alone or in combination, in the smallest deletions causing the syndrome...
March 17, 2016: JCI Insight
Evan J Myers, Aniko Marshall, Michael L Jennings, Mark D Parker
The SLC4A11 gene encodes the bicarbonate-transporter-related protein BTR1, which is mutated in syndromes characterized by vision and hearing loss. Signs of these diseases (congenital hereditary endothelial dystrophy (CHED) and Harboyan Syndrome) are evident in mouse models of Slc4a11 disruption. However, the intrinsic activity of Slc4a11 remains controversial, complicating assignment of its (patho)physiological role. Most studies concur that Slc4a11 transports H(+) (or the thermodynamically equivalent species OH(-)) rather than HCO3 (-) but disparities have arisen as to whether the transport is coupled to another species such as Na(+) or NH3/NH4 (+) Here for the first time, we examine the action of mouse Slc4a11 in Xenopus oocytes...
September 28, 2016: American Journal of Physiology. Cell Physiology
Christina Prendergast, Erika Ketteler, Gregory Evans
A career as a plastic surgeon is both rewarding and challenging. The road to becoming a surgeon is a long arduous endeavor and can bring significant challenges not only to the surgeon but their family. A study by the American College of Surgeons (ACS) suggested that over 40% of surgeons experience burnout and a recent survey of American Society of Plastic Surgeons (ASPS) showed that more than one-fourth of plastic surgeons have signs of professional burnout. Burnout is a state of physical and mental exhaustion...
September 27, 2016: Aesthetic Surgery Journal
Andriani C Patera, Anne M Drewry, Katherine Chang, Evan R Beiter, Dale Osborne, Richard S Hotchkiss
Sepsis is a heterogeneous syndrome comprising a highly diverse and dynamic mixture of hyperinflammatory and compensatory anti-inflammatory immune responses. This immune phenotypic diversity highlights the importance of proper patient selection for treatment with the immunomodulatory drugs that are entering clinical trials. To better understand the serial changes in immunity of critically ill patients and to evaluate the potential efficacy of blocking key inhibitory pathways in sepsis, we undertook a broad phenotypic and functional analysis of innate and acquired immunity in the same aliquot of blood from septic, critically ill nonseptic, and healthy donors...
September 26, 2016: Journal of Leukocyte Biology
Evans Machogu, Clement L Ren
The growth of cystic fibrosis newborn screening (CF NBS) has led to an increased number of infants with a positive NBS test but inconclusive CF diagnostic testing. In the USA this condition is called CFTR related metabolic syndrome (CRMS), while in Europe the term CF screen positive, inconclusive diagnosis (CFSPID) is used. Recent advances in CF genetics and epidemiologic studies of CRMS/CFSPID have provided new insights into the prevalence and outcomes associated with this condition. Pediatr Pulmonol. 2016;51:S45-S48...
October 2016: Pediatric Pulmonology
Salleh N Ehaideb, Elizabeth A Wignall, Junko Kasuya, William H Evans, Atulya Iyengar, Haley L Koerselman, Anthony J Lilienthal, Alexander G Bassuk, Toshihiro Kitamoto, J Robert Manak
OBJECTIVE: Genetically tractable fruit flies have been used for decades to study seizure disorders. However, there is a paucity of data specifically correlating fly and human seizure phenotypes. We have previously shown that mutation of orthologous PRICKLE genes from flies to humans produce seizures. This study aimed to determine whether the prickle-mediated seizure phenotypes in flies closely parallel the epilepsy syndrome found in PRICKLE patients. METHODS: Virtually all fly seizure studies have relied upon characterizing seizures that are evoked...
September 2016: Annals of Clinical and Translational Neurology
Asadur Rahman, Yui Takeshige, Yoshihide Fujisawa, Hirofumi Hitomi, Daisuke Nakano, Akira Nishiyama
OBJECTIVE: Disrupted circadian rhythm of blood pressure is associated with cardiovascular events in metabolic syndrome and obesity. Experiments were conducted to examine the effects of sodium-glucose co-transporter 2 (SGLT2) inhibitors on circadian rhythm of blood pressure in a genetic model of obese metabolic syndrome (SHR/NDmcr-cp (+/+) (SHRcp)) and salt-treated obese Otsuka Long Evans Tokushima Fatty (OLETF) rats. DESIGN AND METHOD: Luseogliflozin (10 mg/kg/day, p...
September 2016: Journal of Hypertension
Roman H Khonsari, Benjamin Way, Johan Nysjö, Guillaume A Odri, Raphaël Olszewski, Robert D Evans, David J Dunaway, Ingela Nyström, Jonathan A Britto
A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients...
August 21, 2016: Journal of Cranio-maxillo-facial Surgery
Mark D Evans, Vilas Mistry, Rajinder Singh, Daniel Gackowski, Rafał Różalski, Agnieszka Siomek-Gorecka, David H Phillips, Jie Zuo, Leon Mullenders, Alex Pines, Yusaku Nakabeppu, Kunihiko Sakumi, Mutsuo Sekiguchi, Teruhisa Tsuzuki, Margherita Bignami, Ryszard Oliński, Marcus S Cooke
Urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodGuo) is a widely measured biomarker of oxidative stress. It has been commonly assumed to be a product of DNA repair, and therefore reflective of DNA oxidation. However, the source of urinary 8-oxodGuo is not understood, although potential confounding contributions from cell turnover and diet have been ruled out. Clearly it is critical to understand the precise biological origins of this important biomarker, so that the target molecule that is oxidised can be identified, and the significance of its excretion can be interpreted fully...
August 30, 2016: Free Radical Biology & Medicine
Ikuko Kato, Hitoshi Okada, Tomoko Nishida, Yukihiko Konishi, Sonoko Kondo, Sae Nishisho, Takashi Iwase, Susumu Itoh, Takashi Kusaka
There have been a number of recent reports on the occurrence of autoimmune conditions after autologous hematopoietic stem cell transplantation. We describe a rare case of Evans syndrome (ES) that developed in a 16-year-old patient >1 year after autologous peripheral blood stem cell transplantation for recurrent Hodgkin lymphoma. ES is a rare and frequently refractory condition. No therapy for the condition has been established, and it can often be fatal. In the present case, i.v. cyclosporine A injection was significantly effective against the ES, which has not recurred...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
David Trainor, Lois Evans, Rupert Bird
OBJECTIVES: A single case report on cannabinoid treatment for treatment-resistant Tourette syndrome (TS). METHOD: Our subject received 10.8 mg Tetrahydocannabinol and 10 mg cannabidiol daily, in the form of two oro-mucosal sprays of 'Sativex(®)', twice daily. Assessment was pre-treatment and at week one, two, and four during treatment. He completed the Yale Global Tic Severity Scale as a subjective measure, and was videoed at each stage. The videos were objectively rated by two assessors, blind to the stage of treatment, using the Original Rush Videotape Rating Scale...
August 24, 2016: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
Jacqueline J T Liaw, Philip V Peplow
Chronic inflammation is known to be associated with visceral obesity and insulin resistance which are characterized by altered levels of production of pro- and anti-inflammatory adipokines. The dysregulation of the production of inflammatory adipokines and their functions in obese individuals leads to a state of chronic low-grade inflammation and may promote obesity-linked metabolic disorders and cardiovascular diseases such as insulin resistance, metabolic syndrome, and atherosclerosis. Electroacupuncture (EA) was tested to see if there was a difference in its effect on pro- and anti-inflammatory adipokine levels in the blood serum and the white adipose tissue of obese Zucker fatty rats and high-fat diet-induced obese Long Evans rats...
August 2016: Journal of Acupuncture and Meridian Studies
Catherine A Matthews, Andrew Eschenroeder, Gopal Badlani, Robert Evans, Stephen J Walker
AIMS: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood disease with no absolute diagnostic marker. A molecular-based tool (biomarker) for IC/BPS diagnosis would have immediate clinical utility. We have generated a bank of bladder biopsy tissue from IC/BPS patients and require a control group for comparative gene expression studies. The objective of this pilot study was to investigate the feasibility of cadaveric bladder specimens as a viable source of control tissue...
August 19, 2016: Neurourology and Urodynamics
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