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ebstein syndrome

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https://www.readbyqxmd.com/read/28426384/a-2-year-old-boy-with-circulatory-failure-owing-to-streptococcal-toxic-shock-syndrome-case-report
#1
Werner Keenswijk, Johan Vande Walle
A 2-year-old boy presented with severe hypotension and acute kidney injury after a prodrome of non-bloody diarrhoea and fever in the preceding 3 days. He had a mild Ebstein cardiac anomaly but otherwise a normal past history and growth. On examination, he looked ill, his temperature was 37.5 °C, circulation was poor, and there were several purpuric lesions on the face, hands and scrotum. Haemoglobin was 7.8 g/dL (11-14), total white cell count 27 × 10(9)/L, platelets 62 × 10(9)/L, blood urea nitrogen 20...
April 20, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28388435/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#2
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, 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
No abstract text is available yet for this article.
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#3
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28258242/successful-cardiac-transplantation-outcomes-in-patients-with-adult-congenital-heart-disease
#4
Jonathan N Menachem, Jessica R Golbus, Maria Molina, Jeremy A Mazurek, Nicole Hornsby, Pavan Atluri, Stephanie Fuller, Edo Y Birati, Yuli Y Kim, Lee R Goldberg, Joyce W Wald
OBJECTIVES: The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). BACKGROUND: Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT...
March 3, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28161232/-correctly-address-the-cause-of-hemophagocytic-lymphohistiocytosis
#5
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/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#6
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/28079865/differences-in-mortality-characteristics-in-neonates-with-down-s-syndrome
#7
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...
April 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27741366/diverse-outcome-following-early-prenatal-diagnosis-of-pulmonary-stenosis
#8
M Bronshtein, Z Blumenfeld, A Khoury, A Gover
OBJECTIVE: To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation. METHODS: In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members...
February 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27704512/what-prognosis-for-ebstein-s-anomaly-without-surgery-hassan-ii-teaching-hospital-experience
#9
Moumouni Garba, Samir Atmani, Rabiou Sani, Kaled Adamou Nouhou
Background From the first description in 1886, significant progress was made on the treatment of Ebstein disease by mono and bi-ventricular surgery. Aim To highlight the prognosis of Ebstein's anomaly in the pediatric department of Hassan II hospital in Fez. Methods This is a descriptive and retrospective study of 4 years. Results We collected nine patients (seven boys and two girls) with a mean age of 5.3 years. Cyanosis was the main mode of revelation of the disease. In three patients Ebstein's anomaly was part of a malformative syndrome...
April 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/27646593/ep05-04-a-rare-case-of-ebstein-s-anomaly-and-down-s-syndrome-diagnosed-intra-utero
#10
C A Capuruço, C N Martins, R M Lopes, F A Fantini
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27572669/the-changing-epidemiology-of-ebstein-s-anomaly-and-its-relationship-with-maternal-mental-health-conditions-a-european-registry-based-study
#11
Breidge Boyle, Ester Garne, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Clara Cavero-Carbonell, Miriam Gatt, Nathalie Lelong, Catherine Lynch, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Anke Rissmann, David Tucker, Natalia Zymak-Zakutnia, Helen Dolk
OBJECTIVES: The aim of this study was to describe the epidemiology of Ebstein's anomaly in Europe and its association with maternal health and medication exposure during pregnancy. DESIGN: We carried out a descriptive epidemiological analysis of population-based data. SETTING: We included data from 15 European Surveillance of Congenital Anomalies Congenital Anomaly Registries in 12 European countries, with a population of 5.6 million births during 1982-2011...
August 30, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27558473/surgical-outcome-in-pediatric-patients-with-ebstein-s-anomaly-a-multicenter-long-term-study
#12
MULTICENTER STUDY
Lianne M Geerdink, Gideon J du Marchie Sarvaas, Irene M Kuipers, Willem A Helbing, Tammo Delhaas, Henriette Ter Heide, Lieke Rozendaal, Chris L de Korte, Sandeep K Singh, Tjark Ebels, Mark G Hazekamp, Felix Haas, Ad J J C Bogers, Livia Kapusta
OBJECTIVE: Surgical outcomes of pediatric patients with Ebstein's anomaly are often described as part of all-age-inclusive series. Our objective is to focus on patients treated surgically in childhood (0-18 y). We study the intended treatment (biventricular or 1.5 ventricle repair or univentricular palliation), freedom from unplanned reoperation and survival of this specific age group, in a nationwide study. DESIGN: Records of all Ebstein's anomaly patients born between 1980 and 2013 were reviewed...
January 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/27439929/successful-ablation-of-coexistent-mahaim-tachycardia-and-right-posterior-accessory-pathway-in-a-patient-with-ebstein-s-anomaly
#13
Enes Elvin Gül, Celal Akdeniz, Volkan Tuzcu
The atriofascicular accessory pathway (AP), known as the Mahaim pathway, is a rare form of pre-excitation, comprising less than 3% of all APs. Mahaim AP is characterized by decremental, anterograde-only conduction, and antidromic tachycardia with left bundle branch morphology. Prevalence of Mahaim AP in Ebstein's anomaly is significantly high. In addition, combination of Wolff-Parkinson-White (WPW) syndrome and Mahaim AP in patients with Ebstein's anomaly has been reported. Presently described is the coexistence of Mahaim AP and manifest WPW syndrome in a patient with Ebstein's anomaly, who was successfully ablated without fluoroscopy...
July 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/27411422/systemic-onset-juvenile-idiopathic-arthritis-with-macrophage-activation-syndrome-and-coronary-artery-dilatation-misdiagnosed-as-kawasaki-disease
#14
Gonca Keskindemirci, Nuray Aktay Ayaz, Neslihan Melikoğlu, Helen Bornaun, Çiğdem Aydoğmuş, Esin Aldemir, Gönül Aydoğan
Systemic onset juvenile idiopathic arthritis (SoJIA) is characterized by arthritis, fever and visceral organ involvement including hepatosplenomegaly, lympadenopathy and serositis. This is a case of SoJIA misdiagnosed as Kawasaki disease (KD) and developed machrophage activation syndrome (MAS) secondary to Ebstein-Barr virus (EBV) infection. It is presented to point out the conditions that may come along. First of all, SoJIA should be kept in mind while making the differential diagnosis of coronary arterial ectasias and dilatations usually seen in vasculitic diseases like KD...
September 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27363529/right-ventricular-outflow-tract-obstruction-in-complicated-monochorionic-twin-pregnancies
#15
S J Eschbach, L S T M Boons, E van Zwet, J M Middeldorp, F J C M Klumper, E Lopriore, A K K Teunissen, M E Rijlaarsdam, D Oepkes, A D J Ten Harkel, M C Haak
OBJECTIVE: Severe right Ventricular Outflow Tract Obstruction (RVOTO) is a complication in recipient twins in Twin-to-Twin-Transfusion Syndrome (TTTS), which requires post-partum follow-up or treatment. The objective of our study was to evaluate pregnancy characteristics of neonates with RVOTO in complicated monochorionic twin pregnancies. In the TTTS cases we aimed to determine the incidence and to construct a prediction model for the development of RVOTO. METHODS: An observational cohort study of all complicated monochorionic twin pregnancies with a post-partum neonatal diagnosis of RVOTO was performed...
July 1, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27339563/a-retrospective-evaluation-of-lymphadenopathy-in-children-in-a-single-center-s-experience
#16
Sevgi Buyukbese Sarsu, Kamil Sahin
OBJECTIVE: To determine the causes of lymphadenopathies in children living in our region, and detect the frequency of malignant disease. METHODS: Our study evaluated demographic characteristics, lymph node involvement sites, tests, and viral serologiesperformed to search for the presence of infection, and ultrasonographic, and histologic findings of 1700 children who were referred to the outpatient clinics of the Paediatric Diseases and Paediatric Surgery between January 2012, and January 2015...
June 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27238951/-ebstein-anomaly-and-congenital-long-qt-syndrome-report-of-a-case
#17
Daniel Hurtado-Sierra, Leonardo Rivera-Rodríguez
No abstract text is available yet for this article.
May 26, 2016: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/27225164/surgical-aspects-of-atrial-arrhythmia-right-atrial-ablation-and-anti-arrhythmic-surgery-in-congenital-heart-disease
#18
Hideki Uemura
BACKGROUND: Atrial arrhythmias are frequently described in congenital heart disease. OBJECTIVES: To provide a surgical perspective of anti-arrhythmic procedures and strategic approaches. METHODS: Discussion of the history of anti-arrhythmic treatments in congenital heart disease. RESULTS: Before the advent of the Maze procedure (first published in 1991), surgery mainly focused on patients with Wolff-Parkinson-White syndrome and also on arrhythmias in Ebstein's malformation...
June 2016: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/26841643/-altered-z-disks-of-myofibrils-in-the-cardiomyocytes-from-patients-with-ebstein-s-anomaly
#19
I F Egorova, E V Penyaeva, L A Bockeria
UNLABELLED: The aim of the study was to examine the peculiarities of the changes in Z-bands of myofibrils in the cardiomyocytes from patients with Ebstein's anomaly. MATERIAL AND METHODS: Electron microscopy assay of intraoperative biopsies of the right heart chambers in 41 patients aged from 9 months to 57 years was performed. RESULTS: Some patients exhibited Z-disk alterations of two types in individual cardiomyocytes, namely: local symmetrical bead-like expansions of Z-disks or longitudinal deposits of Z-material of different lengths along the myofibrils...
November 2015: Arkhiv Patologii
https://www.readbyqxmd.com/read/25854848/biventricular-badness-rare-images-of-ebstein-anomaly-of-the-tricuspid-valve-in-a-patient-with-hypoplastic-left-heart-syndrome
#20
David K Werho, Thor Thorsson, Sonal T Owens, Carlen Fifer
We report a rare case of hypoplastic left heart syndrome coexisting in a patient with Ebstein anomaly of the tricuspid valve, which has previously been described only in pathological studies. A fetal echocardiogram at 27-weeks gestation showed severe aortic stenosis with evolving hypoplastic left heart syndrome, significant endocardial fibroelastosis, a dysplastic tricuspid valve with moderate regurgitation, right atrial and ventricular dilation, and signs of fetal congestive heart failure. Due to inadequate left heart size, the patient was not a candidate for fetal intervention for critical aortic stenosis, and repeat studies showed progression of the lesion through the pregnancy...
August 2015: Pediatric Cardiology
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