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JOURNAL ARTICLE
Klaudia J Koziol, Ameesh Isath, Wilbert S Aronow, William Frishman, Pragya Ranjan
The advancement of medical treatment and surgical technique, along with the invention of cardiopulmonary bypass, has allowed for long-term survival of patients with cyanotic congenital heart disease (CHD)-with many women with CHD now reaching child-bearing age and wishing to become pregnant. Pregnancy in these women is a major concern as the physiologic adaptations of pregnancy, including an increased circulating volume, increased cardiac output, reduced systemic vascular resistance, and decreased blood pressure, place a substantial load on the cardiovascular system...
January 23, 2023: Cardiology in Review
#22
Václav Chaloupecký, Roman Gebauer, Jan Kovanda, Karel Koubský, Ioana Sus, Jan Janoušek
No abstract text is available yet for this article.
January 2023: HeartRhythm Case Reports
#23
JOURNAL ARTICLE
Jerzy Stanek
OBJECTIVES: Fetal blood circulation may be modified in congenital heart disease (CHD). This retrospective analysis was performed to study whether the type of CHD is associated with specific placental pathology. METHODS: Three types of CHD based on presumed proportion of placental and systemic blood distribution in fetal circulation were analyzed: Group 1: 89 cases with low placental blood content (hypoplastic left heart syndrome, transposition of great arteries, coarctation of aorta), Group 2: 71 placentas with intermediate placental and systemic blood content due to increased intracardiac blood mixing (tetralogy of Fallot, truncus arteriosus, double inlet/outlet ventricle), and Group 3: 24 placentas with high placental blood content (tricuspid or pulmonary atresia, Ebstein anomaly)...
June 27, 2023: Journal of Perinatal Medicine
#24
JOURNAL ARTICLE
Siti Nurmaini, Radiyati Umi Partan, Nuswil Bernolian, Ade Iriani Sapitri, Bambang Tutuko, Muhammad Naufal Rachmatullah, Annisa Darmawahyuni, Firdaus Firdaus, Johanes C Mose
Early prenatal screening with an ultrasound (US) can significantly lower newborn mortality caused by congenital heart diseases (CHDs). However, the need for expertise in fetal cardiologists and the high volume of screening cases limit the practically achievable detection rates. Hence, automated prenatal screening to support clinicians is desirable. This paper presents and analyses potential deep learning (DL) techniques to diagnose CHDs in fetal USs. Four convolutional neural network architectures were compared to select the best classifier with satisfactory results...
October 31, 2022: Journal of Clinical Medicine
#25
JOURNAL ARTICLE
C Linda M C van Campen, Frans C Visser
BACKGROUND: As complaints of long-haul COVID patients are similar to those of ME/CFS patients and as orthostatic intolerance (OI) plays an important role in the COVID infection symptomatology, we compared 14 long-haul COVID patients with 14 ME/CFS patients with a post-viral Ebstein-Barr (EBV) onset and 14 ME/CFS patients with an insidious onset of the disease. METHODS: In all patients, OI analysis by history taking and OI assessed during a tilt test, as well as cerebral blood flow measurements by extracranial Doppler, and cardiac index measurements by suprasternal Doppler during the tilt test were obtained in all patients...
October 17, 2022: Healthcare (Basel, Switzerland)
#26
Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini
NONO ( Non-Pou Domain-Containing Octamer-Binding Protein ) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by developmental delay, intellectual disability, poor language, dysmorphic facial features, and microcephaly. Structural brain malformation, such as corpus callosum and cerebellar abnormalities, and heart defects, in particular left ventricular non-compaction (LVNC), represent the most recurrent congenital malformations, recorded both in about 80% of patients, and can be considered the distinctive imaging findings of this disorder...
September 28, 2022: Diagnostics
#27
Kirubakaran K Renganathan, Anand Ramamurthy, Sheeba Jacob, Anil Tharigopula, Anil Vaidya, Mahesh Gopashetty, Anand Khakar
Graft verus host disease (GVHD) following Liver transplantation is rare life threatening complication with very high mortality rate around 85%. Due to increased recognition of this condition management approach is rapidly evolving due to newer diagnostic methods and drugs. Etiology, risk factors, pathogenesis, preventive strategies, management approach and newer drugs are discussed. We present our experience of 2 cases from a large cohort of 1052 Liver transplant operations over a decade.
2022: Journal of Clinical and Experimental Hepatology
#28
REVIEW
Jonas Johannes Papendorf, Elke Krüger, Frédéric Ebstein
Proteostasis, a portmanteau of the words protein and homeostasis, refers to the ability of eukaryotic cells to maintain a stable proteome by acting on protein synthesis, quality control and/or degradation. Over the last two decades, an increasing number of disorders caused by proteostasis perturbations have been identified. Depending on their molecular etiology, such diseases may be classified into ribosomopathies, proteinopathies and proteasomopathies. Strikingly, most-if not all-of these syndromes exhibit an autoinflammatory component, implying a direct cause-and-effect relationship between proteostasis disruption and the initiation of innate immune responses...
April 22, 2022: Cells
#29
JOURNAL ARTICLE
Amanpreet Kaur, Lisa K Hornberger, Deborah Fruitman, Deliwe P Ngwezi, Sujata Chandra, Luke G Eckersley
OBJECTIVE: The effect of expanded obstetrical ultrasound cardiac views on the diagnosis of fetal congenital heart disease (CHD) has not been fully examined at a population level. We hypothesized there has been a significant increase in the prenatal detection of CHD in Alberta., particularly for CHD associated with cardiac outflow tract and three-vessel view abnormalities. METHODS: Using provincial databases, we retrospectively identified all fetuses and infants diagnosed between 2008 and 2018 in Alberta with major CHD requiring surgical intervention within the first postnatal year...
May 2, 2022: Journal of Obstetrics and Gynaecology Canada: JOGC
#30
Van Dan Nguyen, Xuan Tuan Nguyen, Van Tung Pham, Le Tra Pham
Ebstein anomaly (EA) results from the failure of proper delamination of the tricuspid valve leaflets from the right ventricle (RV) myocardium. The severity of EA occurs on a spectrum that results in varying degrees of tricuspid regurgitation, atrial dilation, RV dilation, and dysfunction. These effects have the potential to create substrates that can give rise to atrial arrhythmia, ventricular arrhythmia, and a greater incidence of Wolff-Parkinson-White (WPW) syndrome Wackel et al. (2018) accounting for 0.5% of all congenital heart diseases (Oh et al...
2022: Case Reports in Vascular Medicine
#31
Kamal M Alshamiri, Abdulilah Z Albriek, Tariq W Farrag, Mostafa Q Alshamiri
Ectopia cordis (EC) is a rare congenital condition characterized by a partial or complete defect of the anterior chest wall. It is associated with ventricular and atrial septal defects (ASD), Ebstein's anomaly, truncus arteriosus, transposition of the great vessels, tetralogy of Fallot, and hypoplastic left heart syndrome. This study aimed to explore the cardiac manifestations of EC complicated by coronavirus disease 2019 (COVID-19). A 23-year-old male, born with EC, was admitted to the hospital for acute cough and fever...
February 2022: Clinical Case Reports
#32
JOURNAL ARTICLE
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus M Nöthen, Peter M Krawitz
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can support physicians in recognizing these patterns by associating facial phenotypes with the underlying syndrome through training on thousands of patient photographs. However, this 'supervised' approach means that diagnoses are only possible if the disorder was part of the training set. To improve recognition of ultra-rare disorders, we developed GestaltMatcher, an encoder for portraits that is based on a deep convolutional neural network...
March 2022: Nature Genetics
#33
Natee Sirinvaravong, Mark Heimann, Steve Liskov, Gan-Xin Yan
BACKGROUND: Atrial dissociation (AD) is described as the existence of two simultaneous electrically isolated atrial rhythms. Theoretically, detection of dual atrial rhythms with a sufficiently high rate by pacemaker can lead to automatic mode switching and associated pacemaker syndrome. Such a clinical observation has not been reported before in the literature. CASE SUMMARY: An 87-year-old female with Ebstein's anomaly status post-tricuspid valve annuloplasty and tricuspid valve replacement and a dual-chamber pacemaker presented with congestive heart failure 1 week after undergoing atrial lead revision...
January 2022: European Heart Journal. Case Reports
#34
JOURNAL ARTICLE
Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M S Mancini, Jacques C Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E Schnur, Ingrid M Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W Verheijen, Eva Faurie, Rachel Schot, Cathy A Stevens, Daphne J Smits, Eileen Barr, Ruth Sheffer, Jonathan A Bernstein, Chandler L Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H van Jaarsveld, Anna C E Hurst, Kirstin Smith, Evan H Baugh, Suzanne G Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A Rosenfeld, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I Berger, Ann C M Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor
Nuclear deubiquitinase BAP1 (BRCA1-associated protein 1) is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A). BAP1 is a tumor suppressor whose germline loss-of-function variants predispose to cancer. To our knowledge, there are very rare examples of different germline variants in the same gene causing either a neurodevelopmental disorder (NDD) or a tumor predisposition syndrome. Here, we report a series of 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic NDD...
February 3, 2022: American Journal of Human Genetics
#35
JOURNAL ARTICLE
Bertrand Isidor, Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L Rudy, Benjamin Cogne, Johannes Mayr, Anja Brehm, Caleb Bupp, Kathryn Warren, Carlos A Bacino, Amanda Gerard, Judith D Ranells, Kay A Metcalfe, Yolande van Bever, Yong-Hui Jiang, Bryce A Mendelssohn, Heidi Cope, Jill A Rosenfeld, Patrick R Blackburn, McKinsey L Goodenberger, Hutton M Kearney, Joanna Kennedy, Ingrid Scurr, Krzysztof Szczaluba, Rafal Ploski, Anne de Saint Martin, Yves Alembik, Amélie Piton, Ange-Line Bruel, Christel Thauvin-Robinet, Alanna Strong, Karin E M Diderich, Dominique Bourgeois, Karin Dahan, Virginie Vignard, Dominique Bonneau, Estelle Colin, Magalie Barth, Caroline Camby, Geneviève Baujat, Ignacio Briceño, Alberto Gómez, Wallid Deb, Solène Conrad, Thomas Besnard, Stéphane Bézieau, Elke Krüger, Sébastien Küry, PaweƗ Stankiewicz
PURPOSE: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS. METHODS: We report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12...
November 24, 2021: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#36
MULTICENTER STUDY
Manon Lesturgie-Talarek, Julia Goossens, Sabryne Berkani, Marine Forien, Pierre-Antoine Juge, Esther Ebstein, Elisabeth Palazzo, Raphael Borie, Bruno Crestani, Philippe Dieudé, Sébastien Ottaviani
OBJECTIVE: US of salivary glands (SGUS) is a non-invasive tool that allows for diagnosing primary SS (pSS) or secondary SS (sSS). However, little is known about the prevalence of US findings of SS in other CTDs. The aim of this multi-centre observational study was to evaluate, in CTD patients with or without SS, the prevalence of abnormal SGUS findings and the possible association of the findings with clinical or biological phenotypes. METHODS: B-Mode SGUS was performed by one operator blinded to clinical data...
August 3, 2022: Rheumatology
#37
Inguna Lubaua, Madara Teraudkalna
Ebstein anomaly is a rare congenital heart disease characterized by a varying degree of anatomical and functional abnormalities of tricuspid valve and right ventricle. It often coexists with other congenital cardiac malformations. Up to 79-89% of patients with Ebstein anomaly have interatrial communication in the form of patent oval foramen or atrial septal defect and more than one-third has other types of cardiac malformations. Association between Ebstein anomaly and right aortic arch is extremely rare and only few cases have been described in the literature so far...
November 13, 2021: Medicina
#38
JOURNAL ARTICLE
Taro Miyamoto, Yasushi Oginosawa, Keishiro Yagyu, Yasunobu Yamagishi, Keita Tsukahara, Hisaharu Ohe, Ritsuko Kohno, Haruhiko Abe, Masaharu Kataoka
An 84-year-old woman with type B WPW with Ebstein anomaly was admitted with heart failure. She had rapid wide QRS tachcardia due to accessory pathway (AP) conduction associated with atrial fibrillation (AF). Since transesophageal echocardiography before catheter ablation showed a left atrial thrombus, ablation was performed using a 3D mapping system under AF. After marking the functional tricuspid anulus with intra-cardiac echocardiography, 3D intra-cardiac electrogram visualisation (ripple map) during AF enabled clear identification of location of the AP...
November 9, 2021: Pacing and Clinical Electrophysiology: PACE
#39
Kimberly Christine Coetzer, Shahida Moosa
Hemizygous loss-of-function variants in the non-POU domain-containing, octamer-binding gene, NONO, cause X-linked mental retardation syndrome 34 (MRXS34). Here, we describe the 12th patient in the literature with this rare syndrome, the first affected male from sub-Saharan Africa. This South African patient presented with dysmorphic features, congenital cardiac abnormalities (Ebstein's anomaly, left ventricular non-compaction, and a VSD), and developmental delay. He was enrolled in our "Undiagnosed Disease Programme...
January 2022: American Journal of Medical Genetics. Part A
#40
JOURNAL ARTICLE
Qi Lou, Yiping Zou, Jinlin Wu, Jimei Chen, Jian Zhuang, Shusheng Wen
Objective: The aim of this study was to compare the early outcomes of the cone and Hetzer procedures for Ebstein's malformation. Methods: This retrospective study included patients who underwent either cone ( n = 83) or Hetzer repair ( n = 45) with Ebstein's malformation from January 2011 to December 2020. Results: One early death occurred in the cone group due to low cardiac output syndrome. Five cone and three Hetzer repair patients required reoperation before discharge. At discharge, the cone group had a better reduction in tricuspid valve regurgitation (TR) than the Hetzer group (74...
2021: Frontiers in Cardiovascular Medicine
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