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https://www.readbyqxmd.com/read/28343885/carpal-tunnel-syndrome-impairs-index-finger-responses-to-unpredictable-perturbations
#1
Emily L Grandy, Kaihua Xiu, Tamara L Marquardt, Chengliu Li, Peter J Evans, Zong-Ming Li
The fine-tuning of digit forces to object properties can be disrupted by carpal tunnel syndrome (CTS). CTS' effects on hand function have mainly been investigated using predictable manipulation tasks; however, unpredictable perturbations are commonly encountered during manual tasks, presenting situations which may be more challenging to CTS patients given their hand impairments. The purpose of this study was to investigate muscle and force responses of the index finger to unpredictable perturbations in patients with CTS...
March 16, 2017: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/28333981/lipopolysaccharide-induced-endotoxemia-in-corn-oil-preloaded-mice-causes-an-extended-course-of-lung-injury-and-repair-and-pulmonary-fibrosis-a-translational-mouse-model-of-acute-respiratory-distress-syndrome
#2
Chaomin Wu, Colin E Evans, Zhiyu Dai, Xiaojia Huang, Xianming Zhang, Hua Jin, Guochang Hu, Yuanlin Song, You-Yang Zhao
Acute respiratory distress syndrome (ARDS) is characterized by acute hypoxemia respiratory failure, bilateral pulmonary infiltrates, and pulmonary edema of non-cardiac origin. Effective treatments for ARDS patients may arise from experimental studies with translational mouse models of this disease that aim to delineate the mechanisms underlying the disease pathogenesis. Mouse models of ARDS, however, can be limited by their rapid progression from injured to recovery state, which is in contrast to the course of ARDS in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28333910/establishing-a-timeline-to-discontinue-routine-testing-of-asymptomatic-pregnant-women-for-zika-virus-infection-american-samoa-2016-2017
#3
W Thane Hancock, Heidi M Soeters, Susan L Hills, Ruth Link-Gelles, Mary E Evans, W Randolph Daley, Emily Piercefield, Magele Scott Anesi, Mary Aseta Mataia, Anaise M Uso, Benjamin Sili, Aifili John Tufa, Jacqueline Solaita, Elizabeth Irvin-Barnwell, Dana Meaney-Delman, Jason Wilken, Paul Weidle, Karrie-Ann E Toews, William Walker, Phillip M Talboy, William K Gallo, Nevin Krishna, Rebecca L Laws, Megan R Reynolds, Alaya Koneru, Carolyn V Gould
The first patients with laboratory-confirmed cases of Zika virus disease in American Samoa had symptom onset in January 2016 (1). In response, the American Samoa Department of Health (ASDoH) implemented mosquito control measures (1), strategies to protect pregnant women (1), syndromic surveillance based on electronic health record (EHR) reports (1), Zika virus testing of persons with one or more signs or symptoms of Zika virus disease (fever, rash, arthralgia, or conjunctivitis) (1-3), and routine testing of all asymptomatic pregnant women in accordance with CDC guidance (2,3)(...
March 24, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28314927/enhanced-podocyte-vesicle-transport-in-the-nephrotic-rat
#4
Akihiro Tojo, Saaya Hatakeyama, Satoshi Kinugasa, Satoru Fukuda, Toshio Sakai
Albumin endocytosis is enhanced in the podocytes of minimal change nephrotic syndrome. We investigated that the endocytic vesicle transport in the podocyte using three-dimensional observation in a rat model of puromycin aminonucleoside (PAN)-induced nephrotic syndrome. At day 7, Evans Blue-labeled albumin was intravenously injected in PAN rats, and one kidney was fixed for a morphological analysis; the other was used for the isolation of glomeruli through sieving and protein analyses. Evans Blue-labeled albumin was found to accumulate in an increased number of vesicles in the podocytes of PAN rat...
March 17, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28295246/pourfour-du-petit-syndrome-associated-with-right-eye-pressure
#5
Randolph W Evans, Adam Garibay, Rod Foroozan
Pourfour du Petit (PDP) syndrome is a rare disorder characterized by ipsilateral mydriasis, eyelid retraction, and hemifacial hyperhidrosis caused by hyperactivity of the ipsilateral oculosympathetic pathway. A case is presented of PDP syndrome associated with likely ipsilateral occipital neuralgia. We review the causes and co-morbidities and the clinical features of PDP.
March 13, 2017: Headache
https://www.readbyqxmd.com/read/28277466/early-results-of-surgical-management-of-camptodactyly
#6
Brady T Evans, Peter M Waters, Donald S Bae
BACKGROUND: We hypothesize that surgery for moderate-to-severe camptodactyly (>50 degrees) results in modest gains in range of motion and improved digital position. METHODS: A retrospective analysis of patients undergoing surgery for camptodactyly at a tertiary children's hospital between 2000 and 2014 was performed. Surgery was indicated for patients with persistent, functionally limiting flexion contractures despite observation, therapy, and splinting. Data were collected on demographics, clinical history and presentation, nonoperative management, surgery, and clinical follow-up, focusing on range of motion at the involved joint...
March 8, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28267088/sirolimus-as-an-effective-agent-in-the-treatment-of-immune-thrombocytopenia-itp-and-evans-syndrome-es-a-single-institution-s-experience
#7
Sylwia Jasinski, Mark E Weinblatt, Chana L Glasser
BACKGROUND: Autoimmune cytopenias are characterized by immune-mediated destruction of hematopoietic cell lines with immune thrombocytopenia (ITP) affecting platelets and Evans syndrome (ES) affecting platelets and red blood cells. For patients with persistent disease, limited options for effective and well-tolerated therapies exist. OBJECTIVES: Our aim is to describe our institution's experience with sirolimus as therapy for pediatric patients with persistent ITP and ES...
March 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28261919/the-effect-of-length-duration-and-intensity-of-psychological-therapy-on-core-global-distress-scores
#8
Lauren Jayne Evans, Alison Beck, Mark Burdett
OBJECTIVES: This study explores whether improvements, as measured by the CORE-OM/10, as a result of psychological therapy were related to length of treatment in weeks, number of treatment sessions, or treatment intensity, as well as any effect of diagnostic group. METHODS AND DESIGN: Pre- and post-therapy CORE-OM/10 scores were extracted from the clinical records of all secondary care adult psychological therapy team patients who undertook psychological therapy between 2010 and 2013 in one mental health trust...
March 6, 2017: Psychology and Psychotherapy
https://www.readbyqxmd.com/read/28260941/is-there-evidence-that-we-should-screen-the-general-population-for-lynch-syndrome-with-genetic-testing-a-systematic-review
#9
REVIEW
Anya E R Prince, R Jean Cadigan, Gail E Henderson, James P Evans, Michael Adams, Emmanuel Coker-Schwimmer, Dolly C Penn, Marcia Van Riper, Giselle Corbie-Smith, Daniel E Jonas
BACKGROUND: The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28243543/development-and-validation-of-a-36-gene-sequencing-assay-for-hereditary-cancer-risk-assessment
#10
Valentina S Vysotskaia, Gregory J Hogan, Genevieve M Gould, Xin Wang, Alex D Robertson, Kevin R Haas, Mark R Theilmann, Lindsay Spurka, Peter V Grauman, Henry H Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S Chu, Kevin Iori, Jared R Maguire, Kaylene Ready, Eric A Evans, Hyunseok P Kang, Imran S Haque
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, prostate, melanoma, and neuroendocrine cancers...
2017: PeerJ
https://www.readbyqxmd.com/read/28228961/concurrent-van-der-woude-syndrome-and-turner-syndrome-a-case-report
#11
Evan Los, Hayley Baines, Ines Guttmann-Bauman
Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#12
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
#13
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
#14
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
#15
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
#16
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...
February 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
#17
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
#18
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
#19
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
#20
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
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