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Evan's syndrome

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https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#1
Stephen J Bonasera, Tammy R Chaudoin, Evan H Goulding, Mateusz Mittek, Anna Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire lifespan. The childhood and adolescent behavioral consequences of FXS are well-appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of Fmr1 recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28202356/bladder-capacity-is-a-biomarker-for-a-bladder-centric-versus-systemic-manifestation-in-interstitial-cystitis-bladder-pain-syndrome
#2
Stephen J Walker, Joao Zambon, Karl-Erik Andersson, Carl Langefeld, Catherine A Matthews, Gopal Badlani, Heather Bowman, Robert J Evans
PURPOSE: Interstitial cystitis/bladder pain syndrome (IC/BPS) presents a significant clinical challenge due to symptom heterogeneity and the myriad associated comorbid medical conditions. We recently reported that diminished bladder capacity (BC) may represent a specific IC/BPS sub-phenotype. The objective of this study is to investigate the relationship between anesthetic bladder capacity and clinical findings (urologic and non-urologic) in a cohort of IC/BPS patients who had undergone therapeutic urinary bladder hydrodistention...
February 12, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28195517/systematic-underutilisation-of-secondary-preventive-drugs-in-patients-with-acute-coronary-syndrome-and-reduced-renal-function
#3
Masih Khedri, Karolina Szummer, Juan-Jesus Carrero, Tomas Jernberg, Marie Evans, Stefan H Jacobson, Jonas Spaak
Aims The high risk of recurrent events in patients with reduced renal function following an acute coronary syndrome (ACS) may in part be due to suboptimal secondary prevention. We aimed to describe the association between renal dysfunction and the prescription, initiation and persistent use of secondary prevention during the first year after a first ACS. Methods We identified all patients admitted to any Swedish coronary care unit for a first ACS between 2005 and 2010 ( n = 77,432). In 75,129 patients, creatinine levels were available in order to obtain the estimated glomerular filtration rate (eGFR)...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28191889/targeted-sequencing-identifies-91-neurodevelopmental-disorder-risk-genes-with-autism-and-developmental-disability-biases
#4
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100)...
February 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28177873/prognostic-mutations-in-myelodysplastic-syndrome-after-stem-cell-transplantation
#5
R Coleman Lindsley, Wael Saber, Brenton G Mar, Robert Redd, Tao Wang, Michael D Haagenson, Peter V Grauman, Zhen-Huan Hu, Stephen R Spellman, Stephanie J Lee, Michael R Verneris, Katharine Hsu, Katharina Fleischhauer, Corey Cutler, Joseph H Antin, Donna Neuberg, Benjamin L Ebert
Background Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical phenotype. Therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation. Methods We performed targeted mutational analysis on samples obtained before transplantation from 1514 patients with MDS who were enrolled in the Center for International Blood and Marrow Transplant Research Repository between 2005 and 2014. We evaluated the association of mutations with transplantation outcomes, including overall survival, relapse, and death without relapse...
9, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28166604/smith-lemli-opitz-syndrome-carrier-frequency-and-estimates-of-in-utero-mortality-rates
#6
Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg
OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: 262,399 individuals with no known indication or increased probability of SLOS carrier status, primarily US-based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28134637/experiences-in-performing-posterior-calvarial-distraction
#7
Kevin McMillan, Mark Lloyd, Martin Evans, Nicholas White, Hiroshi Nishikawa, Desiderio Rodrigues, Melanie Sharp, Pete Noons, Guirish Solanki, Stephen Dover
The use of posterior calvarial distraction (PCD) for the management of craniosynostosis is well recognized. The advantages of using this technique include increased cranial volume, decreased intracranial pressure, relief of posterior fossa crowding, improved cerebrospinal fluid (CSF) circulation at the cranio-cervical junction with cessation, and possible resolution of syrinx.The authors retrospectively review their first 50 patients who have undergone PCD under the senior author's care in our unit.The demographics, diagnoses, intraoperative approach with techniques in distractor placement and outcomes of each patient were obtained through an electronic craniofacial database and written patient records...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#8
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28130261/impact-of-thrombosis-on-pulmonary-endothelial-injury-and-repair-following-sepsis
#9
Colin Evans, You-Yang Zhao
The prevailing morbidity and mortality in sepsis are largely due to multiple organ dysfunction (MOD), most commonly lung injury, as well as renal and cardiac dysfunction. Despite recent advances in defining many aspects of the pathogenesis of sepsis-related MOD, including acute respiratory distress syndrome (ARDS), there are currently no effective pharmacological or cell-based treatments for the disease. Human and animal studies have shown that pulmonary thrombosis is common in sepsis-induced ARDS, and pre-clinical studies have shown that anti-coagulation may improve outcome following sepsis challenge...
January 27, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28123980/catheter-directed-interventions-for-acute-deep-vein-thrombosis
#10
REVIEW
Maureen P Kohi, Ryan Kohlbrenner, Kanti P Kolli, Evan Lehrman, Andrew G Taylor, Nicholas Fidelman
Venous thromboembolism (VTE) is an extremely common form of vascular disease and impacts a great number of patients worldwide. Acute deep vein thrombosis (DVT) is a subset of VTE and is traditionally been treated with anticoagulation. There is good quality data which suggests the use of catheter directed interventions for the treatment of acute DVT with the aim of reducing post-thrombotic syndrome (PTS). The present review will discuss the various therapies available for acute DVT, focusing on catheter directed interventions, ranging from traditional anticoagulation to the most novel forms of aspiration thrombectomy...
December 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28123973/imaging-of-venous-compression-syndromes
#11
REVIEW
Evan J Zucker, Suvranu Ganguli, Brian B Ghoshhajra, Rajiv Gupta, Anand M Prabhakar
Venous compression syndromes are a unique group of disorders characterized by anatomical extrinsic venous compression, typically in young and otherwise healthy individuals. While uncommon, they may cause serious complications including pain, swelling, deep venous thrombosis (DVT), pulmonary embolism, and post-thrombotic syndrome. The major disease entities are May-Thurner syndrome (MTS), variant iliac vein compression syndrome (IVCS), venous thoracic outlet syndrome (VTOS)/Paget-Schroetter syndrome, nutcracker syndrome (NCS), and popliteal venous compression (PVC)...
December 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28118797/disseminated-tuberculosis-with-evans-syndrome-an-uncommon-presentation
#12
Sanchit Sharma, Sauvik Dasgupta, Shiv Kumar Suman, Uma Kumar, Sindhu Chitekela
No abstract text is available yet for this article.
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/28092284/persistent-fever-in-medical-intensive-care-unit-evans-syndrome-versus-actinomycotic-osteomyelitis
#13
Amandeep Aujla, Palash Samanta, Gerardo Cabanillas, Hossam Amin
No abstract text is available yet for this article.
January 10, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28072930/left-ventricular-outflow-tract-obstruction-be-prepared
#14
J S Evans, S J Huang, A S McLean, M Nalos
The current trend to treat hypotension in critically ill patients is to place a greater emphasis on inotropic support and less on fluid resuscitation in order to limit the potential harm from fluid overload. This combination may trigger left ventricular outflow tract obstruction (LVOTO) in susceptible patients. Although LVOTO is classically described in patients with hypertrophic cardiomyopathy it has been reported in other conditions including septic shock, apical ballooning syndrome, myocardial infarction, respiratory failure, and post valvular surgery...
January 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28068807/annals-express-measuring-cortisol-in-serum-urine-and-saliva-are-our-assays-good-enough
#15
Nadia El-Farhan, D Aled Rees, Carol Evans
Cortisol is a steroid hormone produced in response to stress. It is essential for maintaining health and well-being; and leads to significant morbidity when deficient or present in excess. It is lipophillic and is transported bound to cortisol-binding globulin (CBG) and albumin; a small fraction (~10%) of total serum cortisol is unbound and biologically active. Serum cortisol assays measure total cortisol and their results can be misleading in patients with altered serum protein concentrations. Automated immunoassays are used to measure cortisol but lack specificity and show significant interassay differences...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28065618/pathological-features-and-clinical-behavior-of-lynch-syndrome-associated-ovarian-cancer
#16
N A J Ryan, D G Evans, K Green, E J Crosbie
OBJECTIVE: Lynch syndrome (LS) is an inherited tumor predisposition condition caused by mutations in the mismatch repair (MMR) genes. Mutation carriers are at increased risk of various malignancies, including ovarian cancer (OC). Relatively little is known about the pathological features and clinical behavior of LS associated OC. METHODS: We analyzed the data of 1047 proven MMR mutated individuals from a prospectively maintained database at a large referral center for genomic medicine in the North West of England...
January 5, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28059446/elimination-of-pain-improves-specificity-of-clinical-diagnostic-criteria-for-adult-chronic-rhinosinusitis
#17
Scott D Hirsch, Evan R Reiter, Laurence J DiNardo, Wen Wan, Theodore A Schuman
OBJECTIVE: Determine whether the elimination of pain improves accuracy of clinical diagnostic criteria for adult chronic rhinosinusitis. STUDY DESIGN: Retrospective cohort study. METHODS: History, symptoms, nasal endoscopy, and computed tomography (CT) results were analyzed for 1,186 adults referred to an academic otolaryngology clinic with presumptive diagnosis of chronic rhinosinusitis. Clinical diagnosis was rendered using the 1997 Rhinosinusitis Taskforce (RSTF) Guidelines and a modified version eliminating facial pain, ear pain, dental pain, and headache...
January 6, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28055149/paraneoplastic-evans-syndrome-in-a-patient-with-adenocarcinoma-of-the-lung-a-case-report
#18
Hong Yu, Rong Fu, Huaquan Wang, Hui Liu, Zonghong Shao
We present a rare case of newly diagnosed Evans syndrome associated with lung papillary adenocarcinoma in which the patient showed prompt restoration of blood cell count and long-lasting complete remission of Evans syndrome after lung cancer resection. Detailed investigation led to a diagnosis of Evans syndrome. In the first year of the disease, left lower lung papillary adenocarcinoma was diagnosed. Pulmonary lobectomy and three courses of chemotherapy were performed. Six months after the initial visit, the primary lung cancer and the autoimmune diseases appeared to be well controlled...
January 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28054583/common-variable-immunodeficiency-patients-with-a-phenotypic-profile-of-immunosenescence-present-with-thrombocytopenia
#19
Jan Stuchlý, Veronika Kanderová, Marcela Vlková, Ivana Heřmanová, Lucie Slámová, Ondřej Pelák, Eli Taraldsrud, Dalibor Jílek, Pavlína Králíc Ková, Børre Fevang, Marie Trková, Ondřej Hrušák, Eva Froňková, Anna Šedivá, Jiří Litzman, Tomáš Kalina
Common variable immunodeficiency (CVID) is a heterogeneous group of diseases. Our aim was to define sub-groups of CVID patients with similar phenotypes and clinical characteristics. Using eight-color flow cytometry, we analyzed both B- and T-cell phenotypes in a cohort of 88 CVID patients and 48 healthy donors. A hierarchical clustering of probability binning "bins" yielded a separate cluster of 22 CVID patients with an abnormal phenotype. We showed coordinated proportional changes in naïve CD4+ T-cells (decreased), intermediate CD27- CD28+ CD4+ T-cells (increased) and CD21low B-cells (increased) that were stable for over three years...
January 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28034881/impact-of-intravenous-immunoglobulin-on-survival-in-necrotizing-fasciitis-with-vasopressor-dependent-shock-a-propensity-score-matched-analysis-from-130-us-hospitals
#20
Sameer S Kadri, Bruce J Swihart, Stephanie L Bonne, Samuel F Hohmann, Laura V Hennessy, Peter Louras, Heather L Evans, Chanu Rhee, Anthony F Suffredini, David C Hooper, Dean A Follmann, Eileen Bulger, Robert L Danner
BACKGROUND: Shock frequently complicates necrotizing fasciitis (NF) caused by group A streptococcus (GAS) or Staphylococcus aureus (SA). Intravenous immunoglobulin (IVIG) is sometimes administered for presumptive toxic shock syndrome (TSS), but its frequency of use and efficacy are unclear. METHODS: Adult patients with NF and vasopressor-dependent shock undergoing surgical debridement from 2010 to 2014 were identified at 130 U.S. hospitals. IVIG cases were propensity-matched and risk-adjusted...
December 29, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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