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https://www.readbyqxmd.com/read/28212520/adp-ribosyl-cyclases-cd38-cd157-social-skills-and-friendship
#1
Anne Chong, Fabio Malavasi, Salomon Israel, Chiea Chuen Khor, Von Bing Yap, Mikhail Monakhov, Soo Hong Chew, Poh San Lai, Richard P Ebstein
Why some individuals seek social engagement while others shy away has profound implications for normal and pathological human behavior. Evidence suggests that oxytocin (OT), the paramount human social hormone, and CD38 that governs OT release, contribute to individual differences in social skills from intense social involvement to extreme avoidance that characterize autism. To explore the neurochemical underpinnings of sociality, CD38 expression of peripheral blood leukocytes (PBL) was measured in Han Chinese undergraduates...
January 16, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28203575/ebstein-anomaly-with-qrs-fragmentation-on-electrocardiogram
#2
Prakash Acharya, Jonathan Ross Ang, Bernard Gitler
Ebstein anomaly is a rare congenital disorder that involves the tricuspid valve and the right ventricle. It is associated with interatrial communication, which allows for paradoxical embolization causing unilateral blindness. Abnormal conduction through the atrialized right ventricle leads to QRS fragmentation on electrocardiogram. Its presence suggests a more severe abnormality and a higher risk of arrhythmia. The QRS fragmentation disappears after corrective surgery with resection of the atrialized right ventricle...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28183001/social-impairments-among-children-perinatally-exposed-to-oxytocin-or-oxytocin-receptor-antagonist
#3
Edwa Friedlander, Ohad Feldstein, David Mankuta, Maya Yaari, Ayelet Harel-Gadassi, Richard P Ebstein, Nurit Yirmiya
No abstract text is available yet for this article.
February 6, 2017: Early Human Development
https://www.readbyqxmd.com/read/28161232/-correctly-address-the-cause-of-hemophagocytic-lymphohistiocytosis
#4
M Penel-Page, B Ben Said, A Phan, L Hees, C Hartmann-Merlin, S Girard, Y Gillet, A Belot
Hemophagocytic lymphohistiocytosis (HLH) is a rare and severe syndrome usually associated with a cytotoxicity deficiency, which leads to an excess of immune response driven by activated macrophages and cytotoxic T cells. In children, HLH can be genetic, as part of a familial lymphohistiocytosis, or secondary: the most frequent causes are systemic-onset juvenile idiopathic arthritis, hematological malignancies, and severe infections, especially with Ebstein-Barr virus or leishmaniosis. We report on the case of a 3-year-old girl with no past medical history, who presented inaugural Pseudomonas aeruginosa maxillary osteitis, with secondary HLH...
February 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28151866/acute-arterial-embolism-of-left-lower-extremity-caused-by-paradoxical-embolism-in-ebstein-s-anomaly-a-case-report
#5
Jun-Sheng Li, Jie Ma, Zi-Xing Yan, Dong-Ming Cheng, Liang Chang, Hai-Chun Zhang, Jiang-Yan Liu
INTRODUCTION: Ebstein's anomaly is a benign and stable congenital heart disease for asymptomatic patients. Despite a low incidence of Ebstein's anomaly (EA), patients' quality of life can be badly affected by EA without positive surgical intervention. Especially EA is associated with other congenital heart disease, such as the atrial septal defect, patent foramen ovale, and arterial embolism exclude other reasons, it is often considered to be the consequence of paradoxical embolism, and surgical intervention must be conducted...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28149483/age-related-ebv-positive-clonal-b-cell-lymphoid-proliferation-ebv-dlbcl
#6
Eleni Georgakopoulou, Marina Doukas-Alexiou, Eleana Stoufi, Christos Kittas, Gerasimos Pangalis, George Laskaris
The Ebstein Barr virus(EBV), herpes virus 5 has been associated with lymphoproliferative disordrers. Age-related EBV+ B-LPD is defined as an EBV+ clonal B-cell lymphoid proliferation or EBV+-DLBCL developing in patients over the age of 40 years in the absence of any known immunodeficiency and without an underlying T-cell lymphoma1. We present a case of EBV+ clonal B-cell lymphoid proliferation. Key words:Oral mucosa ulcer, EBV+-DLBCL, age related.
January 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28143995/ebstein-anomaly-in-pregnancy
#7
Lusiani Rusdi, Syahrir Azizi, Christopher Suwita, Astrid Karina, Sally A Nasution
: A 27-year-old primiparous woman with 28 weeks gestational age was admitted to our hospital with worsening shortness of breath. She was diagnosed with Ebstein's anomaly three years ago, but preferred to be left untreated. The patient was not cyanotic and her vital signs were stable. Her ECG showed incomplete RBBB and prolonged PR-interval. Blood tests revealed mild anemia. Observation of two-dimensional echo with color flow Doppler study showed Ebstein's anomaly with PFO as additional defects, EF of 57%, LV and LA dilatation, RV atrialization, severe TR, and moderate PH with RVSP of 44...
October 2016: Acta Medica Indonesiana
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/28118180/transcatheter-treatment-of-complex-malfunction-of-tricuspid-valve-prosthesis
#9
Giuseppe Santoro, Giancarlo Scognamiglio, Maria T Palladino, Heba T Mahmoud, Maria G Russo
A 45-year-old man with Ebstein anomaly of the tricuspid valve, previously submitted for tricuspid valve replacement and plication of the atrialized part of the right ventricle, was referred because of signs of increased systemic venous pressure and low output symptoms. Clinical picture was due to severe prosthetic valve stenosis and significant paravalvular regurgitation across an aneurismal dilatation of the atrialized right ventricle. A combined transcatheter approach by Melody valve implantation and Amplatzer Vascular Plug occlusion of the paravalvular leak completely relieved the hemodynamic and clinical findings...
January 23, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28079865/differences-in-mortality-characteristics-in-neonates-with-down-s-syndrome
#10
C L Cua, U Haque, S Santoro, L Nicholson, C H Backes
OBJECTIVE: Neonates with Down's syndrome (nDS) may have multiple medical issues that place them at increased risk for mortality during the newborn period. Goal of this study was to determine if there are differences in baseline characteristics, medical complications or procedures performed during hospitalization between nDS who survived versus those who died during initial hospitalization. STUDY DESIGN: Data from 2000 to 2014 were reviewed using the Pediatric Health Information Systems (PHIS) database on all DS patients admitted to the hospital <30 days postnatal life...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28072699/prevention-preferable-to-treatment-3-case-reports-of-patients-experiencing-right-sided-heart-failure-after-ebstein-anomaly-correction
#11
Ming Luo, Jing Lin, Zhen Qin, Lei Du
RATIONALE: Ebstein anomaly is a common congenital heart disease that may induce severe tricuspid regurgitation and dilation of the "atrialized" portion of the right ventricle. Patients who undergo surgery to correct Ebstein anomaly are at high risk of postoperative right-sided heart failure, yet little is known about what pre-, peri-, or postoperative procedures may help reduce this risk. PATIENT CONCERNS: Here, we describe 3 cases of adults with Ebstein anomaly who underwent corrective surgery and in whom right-sided heart failure occurred with severe tricuspid regurgitation detected by transesophageal echocardiography...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28072626/acquired-coronary-artery-disease-in-adult-patients-with-congenital-heart-disease-a-true-or-a-false-problem
#12
Alessandro Giamberti, Mauro Lo Rito, Erika Conforti, Alessandro Varrica, Mario Carminati, Alessandro Frigiola, Lorenzo Menicanti, Massimo Chessa
BACKGROUND: The population of adults with congenital heart disease (ACHD) is increasing and aging, and a large percentage of this population is now over 65 years of age. For this reason, it is probable that acquired coronary artery disease (CAD) will become an important issue that needs to be addressed also in these patients. We retrospectively analyzed all ACHD patients who underwent surgery in our Institution with the aim to investigate the incidence of associated CAD and the results of surgical treatment...
January 7, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28063755/-congenital-heart-disease-recent-technical-advances-in-three-dimensional-echocardiography
#13
Clement Karsenty, Khaled Hadeed, Philippe Acar
The recent technical advances allow the use in practice of three-dimensional echocardiography in children especially through the new high frequency matrix probe. It is difficult or even impossible to hold breathing during children' acquisition so to avoid motion full volume artifact, one beat and live 3D modes are suitable. 3D echocardiography is more accurate than 2D to assess the size, location, and relationship with surrounding structures of atrial and ventricular septal defects and thus helps in the therapeutic decision...
January 4, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28046672/su-f-t-180-evaluation-of-a-scintillating-screen-detector-for-proton-beam-qa-and-acceptance-testing
#14
A Ghebremedhin, M Taber, P Koss, G Camargo, S Ebstein, B Patyal
PURPOSE: To test the performance of a commercial scintillating screen detector for acceptance testing and Quality Assurance of a proton pencil beam scanning system. METHOD: The detector (Lexitek DRD 400) has 40cm × 40cm field, uses a thin scintillator imaged onto a 16-bit scientific CCD with ∼0.5mm resolution. A grid target and LED illuminators are provided for spatial calibration and relative gain correction. The detector mounts to the nozzle with micron precision...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28043758/-ebstein-s-like-anomaly-ventricular-double-inlet-a-rare-association
#15
Luis Muñoz Castellanos, Magdalena Kuri Nivon
INTRODUCTION AND OBJECTIVES: The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. METHODS: Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. RESULTS: Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries...
January 2017: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/28043470/single-center-experience-with-the-senning-procedure-in-the-current-era
#16
Giuseppe Ferro, Raghav Murthy, Vinod A Sebastian, Kristine J Guleserian, Joseph M Forbess
The Senning procedure is an operative technique for atrial inversion in congenital heart anomalies. We sought to evaluate our contemporary outcomes employing this technique. A retrospective analysis of all patients who underwent the Senning procedure at our institution was performed. Hospital records were reviewed, and follow-up data were obtained to evaluate outcomes. Overall, a total of 19 patients underwent a Senning procedure between August 2005 and July 2014. Median age at repair was 594 days (range: 5 days to 15 years)...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28032368/clinical-presentation-and-echocardiographic-characteristics-of%C3%A2-uhl-s-anomaly
#17
Christos G Mihos, Maiteder Larrauri-Reyes, Evin Yucel, Orlando Santana
Uhl's anomaly is a rare cardiac malformation that results in partial or complete absence of the right ventricular myocardium. It most commonly presents in prenatal or newborn infants; however, it may also be found in some adults as advanced right-sided heart failure. Differential diagnoses include arrhythmogenic right ventricular dysplasia and Ebstein's anomaly. Herein, we describe the clinical presentation of Uhl's anomaly in a previously undiagnosed middle-aged adult, and review the echocardiographic criteria used to diagnose and differentiate this rare, albeit important, myocardial disorder...
December 29, 2016: Echocardiography
https://www.readbyqxmd.com/read/28017577/ebstein-s-anomaly-genetics-clinical-manifestations-and-management
#18
REVIEW
Shi-Min Yuan
Ebstein's anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others. Asymptomatic patients with Ebstein's anomaly can be conservatively treated and kept under close follow-up, whereas surgical operation is indicated for those patients with evidence of right heart dilation and progressively impaired ventricular systolic function. A biventricular repair consisting of the reconstruction of a competent monocuspid tricuspid valve, right ventriculorrhaphy, subtotal atrial septal defect closure, and aggressive reduction atrioplasty is suitable for most patients, and 1...
November 19, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28011712/genome-wide-association-study-of-parkinson-s-disease-in-east-asians
#19
Jia Nee Foo, Louis C Tan, Ishak D Irwan, Wing-Lok Au, Hui Qi Low, Kumar-M Prakash, Azlina Ahmad-Annuar, Jinxin Bei, Anne Yy Chan, Chiung Mei Chen, Yi-Chun Chen, Sun Ju Chung, Hao Deng, Shen-Yang Lim, Vincent Mok, Hao Pang, Zhong Pei, Rong Peng, Hui-Fang Shang, Kyuyoung Song, Ai Huey Tan, Yih-Ru Wu, Tin Aung, Ching-Yu Cheng, Fook Tim Chew, Soo-Hong Chew, Siow-Ann Chong, Richard P Ebstein, Jimmy Lee, Seang-Mei Saw, Adeline Seow, Mythily Subramaniam, E-Shyong Tai, Eranga N Vithana, Tien-Yin Wong, Khai Koon Heng, Wee-Yang Meah, Chiea Chuen Khor, Hong Liu, Furen Zhang, Jianjun Liu, Eng-King Tan
Genome-wide association studies (GWAS) on Parkinson's disease (PD) have mostly been done in Europeans and Japanese. No study has been done in Han Chinese, which make up nearly a fifth of the world population. We conducted the first Han Chinese GWAS analyzing a total of 22,729 subjects (5,125 PD cases and 17,604 controls) from Singapore, Hong Kong, Malaysia, Korea, mainland China and Taiwan. We performed imputation, merging and logistic regression analyses of 2,402,394 SNPs passing quality control filters, adjusted for the first three principal components...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27989087/the-double-orifice-valve-technique-to-treat-tricuspid-valve-incompetence
#20
Roland Hetzer, Mariano Javier, Eva Maria Delmo Walter
BACKGROUND: A straightforward tricuspid valve (TV) repair technique was used to treat either moderate or severe functional (normal valve with dilated annulus) or for primary/organic (Ebstein's anomaly, leaflet retraction/tethering and chordal malposition/tethering, with annular dilatation) TV incompetence, and its long-term outcome assessed. METHODS: A double-orifice valve technique was employed in 91 patients (mean age 52.6 ± 23.2 years; median age 56 years; range: 0...
January 2016: Journal of Heart Valve Disease
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