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https://www.readbyqxmd.com/read/28087622/calmodulin-limits-pathogenic-na-channel-persistent-current
#1
Haidun Yan, Chaojian Wang, Steven O Marx, Geoffrey S Pitt
Increased "persistent" current, caused by delayed inactivation, through voltage-gated Na(+) (NaV) channels leads to cardiac arrhythmias or epilepsy. The underlying molecular contributors to these inactivation defects are poorly understood. Here, we show that calmodulin (CaM) binding to multiple sites within NaV channel intracellular C-terminal domains (CTDs) limits persistent Na(+) current and accelerates inactivation across the NaV family. Arrhythmia or epilepsy mutations located in NaV1.5 or NaV1.2 channel CTDs, respectively, reduce CaM binding either directly or by interfering with CTD-CTD interchannel interactions...
January 13, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28079893/mitochondrial-respiratory-dysfunction-disturbs-neuronal-and-cardiac-lineage-commitment-of-human-ipscs
#2
Mutsumi Yokota, Hideyuki Hatakeyama, Yasuha Ono, Miyuki Kanazawa, Yu-Ichi Goto
Mitochondrial diseases are genetically heterogeneous and present a broad clinical spectrum among patients; in most cases, genetic determinants of mitochondrial diseases are heteroplasmic mitochondrial DNA (mtDNA) mutations. However, it is uncertain whether and how heteroplasmic mtDNA mutations affect particular cellular fate-determination processes, which are closely associated with the cell-type-specific pathophysiology of mitochondrial diseases. In this study, we established two isogenic induced pluripotent stem cell (iPSC) lines each carrying different proportions of a heteroplasmic m...
January 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28079110/left-ventricular-noncompaction-cardiomyopathy-cardiac-neuromuscular-and-genetic-factors
#3
REVIEW
Josef Finsterer, Claudia Stöllberger, Jeffrey A Towbin
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate...
January 12, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28077904/regadenoson-in-myocardial-perfusion-study-first-institutional-experiences-in-bosnia-and-herzegovina
#4
Nermina Beslic, Renata Milardovic, Amera Sadija, Sejla Ceric, Zeljka Raic
INTRODUCTION: Myocardial perfusion imaging (MPI) is widely used in the evaluation of known and suspected coronary artery disease (CAD). Imaging of heart in stress and rest enables the comparison of myocardial uptake of radiotracer in proportion to the needs and coronary flow, which is used for detection of perfusion defects. Exercise stress and pharmacologic agents are used for the stressing purpose. Novel pharmacologic stressor regadenoson is A2A selective adenosine agonist, which selectively binds to the adenosine receptors in coronary arteries causing coronary dilatation...
December 2016: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/28077188/point-catheter-ablation-of-macro-re-entrant-ventricular-tachycardia-in-a-patient-after-surgical-repair-for-double-outlet-right-ventricle
#5
Gaku Izumi, Hisashi Yokoshiki, Atsuhito Takeda
Catheter ablation of ventricular tachycardia is often difficult in patients after surgery for CHD. In patients with a ventricular septal defect patch, it is necessary to decide which ventricular side is appropriate for catheter ablation. In this article, we report a case of successful point catheter ablation of re-entrant ventricular tachycardia. Identification of the ventricular septal defect patch using intra-cardiac echocardiography was useful.
January 12, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28074828/three-dimensional-transesophageal-echocardiography-guided-transcathetar-closure-of-ruptured-noncoronary-sinus-of-valsalva-aneurysm
#6
G Anil Kumar, P S Parimala, M Jayaranganath, A M Jagadeesh
Sinus of Valsalva aneurysm accounts for only 1% of congenital cardiac anomalies. Sinus of Valsalva aneurysm can cause aortic insufficiency, coronary artery flow compromise, cardiac arrhythmia, or aneurysm rupture. Three-dimensional transesophageal echocardiography (3DTEE) represents an adjunctive tool to demonstrate the ruptured sinus of Valsalva with better delineation. We present an adult patient with rupture of noncoronary sinus of Valsalva aneurysm into the right atrium (RA). 3DTEE accurately delineated the site of rupture into the RA and showed the exact size and shape of the defect, which helped in the successful transcatheter closure of the defect with a duct occluder device...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074807/isolated-persistent-left-superior-vena-cava-a-case-report-and-its-clinical-implications
#7
Samarjit Bisoyi, Usha Jagannathan, Anjan Kumar Dash, Sabyasachi Tripathy, Raghunath Mohapatra, Naba Kumar Pattnaik, Satyajit Sahu, Debashish Nayak
The venous anomaly of a persistent left superior vena cava (PLSVC) affects 0.3%-0.5% of the general population. PLSVC with absent right superior vena cava, also termed as "isolated PLSVC," is an extremely rare venous anomaly. Almost half of the patients with isolated PLSVC have cardiac anomalies in the form of atrial septal defect, endocardial cushion defects, or tetralogy of Fallot. Isolated PLSVC is usually innocuous. Its discovery, however, has important clinical implications. It can pose clinical difficulties with central venous access, cardiothoracic surgeries, and pacemaker implantation...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074792/remifentanil-prevents-increases-of-blood-glucose-and-lactate-levels-during-cardiopulmonary-bypass-in-pediatric-cardiac-surgery
#8
Tomohiro Chaki, Yuko Nawa, Keishi Tamashiro, Eri Mizuno, Naoyuki Hirata, Michiaki Yamakage
INTRODUCTION: Cardiopulmonary bypass (CPB) can cause stress response that increases levels of cytokine and catecholamine in plasma, resulting in hyperglycemia. In adults, it has been demonstrated that remifentanil infusion during CPB could prevent increases of cytokine, catecholamine, and blood glucose levels, but such effects of remifentanil in children have not been elucidated. AIM: In this study, we investigated the preventive effects of remifentanil on blood glucose and lactate levels during CPB in children...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074573/structural-functional-and-clinical-characterization-of-a-novel-ptpn11-mutation-cluster-underlying-noonan-syndrome
#9
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B Ferrero, Simone Martinelli, Marco Tartaglia
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu(261) , Leu(262) and Arg(265) in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling...
January 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28070867/analytical-modeling-for-computing-lead-stress-in-a-novel-epicardial-micropacemaker
#10
Li Zhou, Yaniv Bar-Cohen, Raymond A Peck, Giorgio V Chirikian, Brett Harwin, Ramen H Chmait, Jay D Pruetz, Michael J Silka, Gerald E Loeb
Implantation and maintenance of a permanent cardiac pacing system in children remains challenging due to small patient size, congenital heart defects and somatic growth. We are developing a novel epicardial micropacemaker for children that can be implanted on the epicardium within the pericardial space via a minimally-invasive technique. The key design configurations include a novel open-coiled lead in which living tissue replaces the usual polymeric support for the coiled conductor. To better understand and be able to predict the behavior of the implanted lead, we performed a radiographic image-based modeling study on a chronic animal test...
January 9, 2017: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#11
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28069793/decreased-wnt-%C3%AE-catenin-signalling-contributes-to-the-pathogenesis-of-dilated-cardiomyopathy-caused-by-mutations-in-the-lamin-a-c-gene
#12
Caroline Le Dour, Coline Macquart, Fusako Sera, Shunichi Homma, Gisele Bonne, John P Morrow, Howard J Worman, Antoine Muchir
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is characterized by cardiac conduction abnormalities and left ventricular systolic dysfunction predisposing to heart failure. Previous cardiac transcriptional profiling of Lmna(H222P/H222P) mouse, a small animal model of LMNA cardiomyopathy, suggested decreased WNT/β-catenin signalling. We confirmed decreased WNT/β-catenin signalling in the hearts of these mice by demonstrating decreased β-catenin and WNT proteins...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28065768/ventricular-septal-defect-complicating-st-elevation-myocardial-infarctions-a-call-for-action
#13
Vikas Singh, Alex P Rodriguez, Parth Bhatt, Carlos E Alfonso, Rahul Sakhuja, Igor F Palacios, Ignacio Inglessis-Azuaje, Mauricio G Cohen, Sammy Elmariah, William W O'Neill
BACKGROUND: Ventricular septal defect is a lethal complication after an acute myocardial infarction which have become infrequent with the advent of reperfusion strategies however; they remain a major contributor to mortality. METHODS: We identified patients using the ICD-9CM procedure codes from the Nationwide Inpatient Sample between the years 2001 and 2013. A multivariate hierarchical logistic regression model was used to identify significant predictors of in-hospital mortality...
January 5, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28065230/effectiveness-of-secundum-atrial-septal-defect-occlusion-with-the-septal-occluder-through-right-chest-small-incision-clinical-analysis-of-140-cases
#14
Song-Yi Qian, Zong-Gang Zhang, Jun Liu, Yong-Zhong Guo, Sheng Guo, Zhong-Yuan Ma, Yu-Kui DU, Ti Ai Li Ai Ze-Zi Mai, Jian-Shuang Tao, Peng Liu
Objective To evaluate the feasibility and effectiveness of secundum atrial septal defect(ASD)occlusion with the septal occluder through right-chest small incision. Methods The clinical data of 140 secundum ASD patients (47 males and 93 females) aged 3-63 years who were treated in our center from August 2004 to July 2014 were retrospectively analyzed. The diameter of ASD was 6 to 36 mm. Under general anesthesia, all patients underwent intraoperative transtsophageal echocardiography (TEE), during which no associated cardiac deformity was found...
December 20, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28064223/influence-of-periostin-on-synoviocytes-in-knee-osteoarthritis
#15
Yutaro Tajika, Tatsuya Moue, Shintaro Ishikawa, Kazuhito Asano, Takayuki Okumo, Hiroshi Takagi, Tadashi Hisamitsu
BACKGROUND: Periostin (POSTN) is a protein that binds to integrins to support adhesion and migration of epithelial cells. Mice lacking this gene exhibit cardiac valve disease as well as skeletal and dental defects. Recent studies indicated that periostin is involved in the pathogenesis and progression of knee osteoarthritis (OA). We investigated the influence of periostin and matrix metalloproteinases (MMPs) on OA synoviocytes. MATERIALS AND METHODS: OA patients were classified according to the Kellgren-Lawrence system and the levels of periostin, interleukin (IL)-4, IL-13 and transforming growth factor-β (TGFβ) in the synovial fluid were measured...
January 2017: In Vivo
https://www.readbyqxmd.com/read/28062680/mitral-valve-replacement-using-a-handmade-construct-in-an-infant
#16
Steven Bibevski, Alexandra Levy, Frank G Scholl
We recently reported the feasibility of a handmade left atrioventricular valve using decellularized extracellular matrix for 3 months in a failed repair of AV canal defect. We present the use of an extracellular matrix mitral valve for 9 months in an infant with an un-repairable congenitally malformed valve. The valve functioned perfectly without anticoagulation until the patient expired from non-cardiac complications of their fibrillin gene defect. This report adds further experience using valves made from extracellular matrix in the systemic ventricle both in terms of application and in terms of short-term durability of the construct...
January 6, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28062416/blood-flow-patterns-underlie-developmental-heart-defects
#17
Madeline Midgett, Kent L Thornburg, Sandra Rugonyi
Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans, and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes...
January 6, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28062374/proteomic-analysis-of-the-rett-syndrome-experimental-model-mecp2-q63x-mutant-zebrafish
#18
Alessio Cortelazzo, Thomas Pietri, Claudio De Felice, Silvia Leoncini, Roberto Guerranti, Cinzia Signorini, Anna Maria Timperio, Lello Zolla, Lucia Ciccoli, Joussef Hayek
: Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Recently, a zebrafish carrying a mecp2-null mutation has been developed with the resulting phenotypes exhibiting defective sensory and thigmotactic responses, and abnormal motor behavior reminiscent of the human disease. Here, we performed a proteomic analysis to examine protein expression changes in mecp2-null vs. wild-type larvae and adult zebrafish...
January 3, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28060152/an-elevated-low-cardiac-output-syndrome-score-is-associated-with-morbidity-in-infants-after-congenital-heart-surgery
#19
Kalia P Ulate, Ofer Yanay, Howard Jeffries, Harris Baden, Jane L Di Gennaro, Jerry Zimmerman
OBJECTIVES: To evaluate an empirically derived Low Cardiac Output Syndrome Score as a clinical assessment tool for the presence and severity of Low Cardiac Output Syndrome and to examine its association with clinical outcomes in infants who underwent surgical repair or palliation of congenital heart defects. DESIGN: Prospective observational cohort study. SETTING: Cardiac ICU at Seattle Children's Hospital. PATIENTS: Infants undergoing surgical repair or palliation of congenital heart defects...
January 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28060126/pediatric-acquired-von-willebrand-syndrome-in-cardiopulmonary-disorders-do-laboratory-abnormalities-predict-bleeding-risk
#20
Saman K Hashmi, Mireya P Velasquez, Donald L Yee, Shiu-Ki Hui, Donald Mahoney, Lakshmi V Srivaths
There are conflicting reports on whether or not laboratory abnormalities in pediatric acquired von Willebrand syndrome (AVWS) predict bleeding manifestations in patients with cardiopulmonary disorders (CPD). We retrospectively reviewed charts of patients with AVWS and CPD (n=16) seen at Texas Children's Hospital from 2003 to 2012. The most common CPD were valve stenoses, ventricular septal defects, and pulmonary hypertension. All patients had loss of high molecular weight multimers. Fifteen (94%) patients presented with bleeding symptoms, with menorrhagia and epistaxis being the most common...
January 5, 2017: Journal of Pediatric Hematology/oncology
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