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https://www.readbyqxmd.com/read/29141844/architectural-t-wave-analysis-and-identification-of-on-therapy-breakthrough-arrhythmic-risk-in-type-1-and-type-2-long-qt-syndrome
#1
Alan Sugrue, Ram K Rohatgi, Peter A Noseworthy, Vaclav Kremen, J Martijn Bos, Bo Qiang, Yehu Sapir, Zachi I Attia, Christopher G Scott, Peter Brady, Samuel J Asirvatham, Paul A Friedman, Michael J Ackerman
BACKGROUND: Although the hallmark of long-QT syndrome (LQTS) is abnormal cardiac repolarization, there are varying degrees of phenotypic expression and arrhythmic risk. Our aim was to evaluate the performance of a morphological T-wave analysis program in defining breakthrough LQTS arrhythmic risk beyond the QTc value. METHODS AND RESULTS: We analyzed 407 genetically confirmed patients with LQT1 (n=246; 43% men) and LQT2 (n=161; 41% men) over the mean follow-up period of 6...
November 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29119691/the-detection-of-porcine-circovirus-3-in-guangxi-china
#2
S Wen, W Sun, Z Li, X Zhuang, G Zhao, C Xie, M Zheng, J Jing, P Xiao, M Wang, J Han, J Ren, H Liu, H Lu, N Jin
Porcine circovirus type 3 (PCV3) is a novel circovirus that was firstly detected in the USA. PCV3 is associated with porcine dermatitis and nephropathy syndrome (PDNS), reproductive failure and cardiac and multisystemic inflammation. Latterly, PCV3 was detected in Guangxi, China. Forty-one of 108 (37.96%) samples and nine of 47 (19.14%) samples were PCV3 positive in pig farms and pig slaughter houses, respectively. Three PCV3 strains were sequenced and designated PCV3-China/GX2016-1, PCV3-China/GX2016-2 and PCV3-China/GX2016-3...
November 8, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29099864/assessing-olfactory-functions-in-patients-with-barth-syndrome
#3
Michele Dibattista, Simona Lobasso, Sebastiano Stramaglia, Angela Corcelli
Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening. The appropriate nutritive support is important to sustain the everyday life of Barth syndrome patients given the chronic fatigue they experience. Since they often prefer salty and fried food, and avoid vegetables and fruits, their eating habit and food preferences do not always provide the proper amount of vitamins and amino acids...
2017: PloS One
https://www.readbyqxmd.com/read/29096901/-ischemic-stroke-related-to-spontaneous
#4
H Benamer, M A Bouzid, A Dufay, M Akodad, S Russel, X Halna du Fretay, F Haziza
Cardiovascular disease in women is a particularly complex pathology especially in the youngest population. The clinical presentation of acute coronary syndromes is sometimes misleading and does not necessarily point to the potential presence of cardiac disease given the frequent absence of cardiovascular risks. Such complexity results in delayed diagnosis, which worsens the outcome of myocardial infarction and generates complications related to the absence of coronary revascularization. We report the case of a patient who suffered an (undiagnosed) apical myocardial infarction that went undetected and was complicated by a voluminous intraventricular thrombus with embolus migration in the cerebral circulation resulting in an ischemic accident...
October 30, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/29081147/-clinical-characteristics-and-prognosis-in-the-patients-of-stroke-after-percutaneous-coronary-intervention
#5
X F Tang, Z Gao, J J Xu, Y Song, Y L Ma, H H Wang, L Jiang, P Jiang, R Liu, L J Gao, Y Zhang, L Song, J Chen, Y J Yang, R L Gao, B Xu, J Q Yuan
Objective: To investigate the clinical characteristics and prognosis in patients with stroke after percutaneous coronary intervention (PCI). Methods: From January 2013 to December 2013, 10 724 consecutive patients undergoing PCI including acute coronary syndrome and stable angina pectoris were enrolled.A two years' follow up was conducted among these patients to investigate the clinical characteristics and prognosis of patients with stroke and of those without. A comparison was done between the two groups. Results: One hundred and forty-five patients had stroke (1...
October 24, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29080386/the-apex-trial-effects-of-allopurinol-on-exercise-capacity-coronary-and-peripheral-endothelial-function-and-natriuretic-peptides-in-patients-with-cardiac-syndrome-x
#6
Tiong Keng Lim, Awson Noman, AnnaMaria J Choy, Faisel Khan, Allan D Struthers, Chim C Lang
The role of endothelial dysfunction and oxidative stress in the pathogenesis of cardiac syndrome X has recently been recognised. Allopurinol has previously been shown to improve endothelial dysfunction, reduce oxidative stress burden and improve myocardial efficiency. In this 'proof of concept' study, we investigated the effect of allopurinol on exercise capacity, coronary and peripheral endothelial function, and serum B-type natriuretic peptide (BNP: a marker of cardiac function and myocardial ischaemia) in patients with cardiac syndrome X...
October 28, 2017: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/29073101/utx-guided-neural-crest-function-underlies-craniofacial-features-of-kabuki-syndrome
#7
Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson
Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29069202/association-of-inflammation-and-endothelial-dysfunction-with-coronary-microvascular-resistance-in-patients-with-cardiac-syndrome-x
#8
Ming Long, Zhibin Huang, Xiaodong Zhuang, Zena Huang, Yue Guo, Xinxue Liao, Chufan Luo
BACKGROUND: Although a proportion of CSX patients have impaired brachial artery flow-mediated dilatation (FMD) in response to hyperemia, suggesting that endothelial dysfunction in these patients may be systemic and not just confined to the coronary circulation; the underlying mechanisms triggering endothelial dysfunction in these patients are still incompletely understood. OBJECTIVES: To assess the association of the index of Microcirculatory Resistance (IMR) with endothelial dysfunction and inflammation in patients with CSX...
October 19, 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29066376/a-de-novo-mutation-in-rpl10-causes-a-rare-x-linked-ribosomopathy-characterized-by-syndromic-intellectual-disability-and-epilepsy-a-new-case-and-review-of-the-literature
#9
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, Daniela Pohl, Martine Tétreault, Kristin D Kernohan, David A Dyment
Intellectual disability (ID) affects 1-2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p...
October 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29059589/high-frequency-burst-vagal-nerve-simulation-therapy-in-a-natural-primate-model-of-genetic-generalized-epilepsy
#10
C Á Szabó, F S Salinas, A M Papanastassiou, J Begnaud, M Ravan, K S Eggleston, R Shade, C Lutz, M De La Garza
PURPOSE: Since the approval of Vagal Nerve Stimulation (VNS) Therapy for medically refractory focal epilepsies in 1997, it has been also reported to be effective for a wide range of generalized seizures types and epilepsy syndromes. Instead of conventional VNS Therapy delivered at 20-30Hz signal frequencies, this study evaluates efficacy and tolerability of high-frequency burst VNS in a natural animal model for genetic generalized epilepsy (GGE), the epileptic baboon. METHODS: Two female baboons (B1 P...
October 12, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29050735/-inferior-myocardial-infarction-complicated-by-complete-heart-block-and-cardiac-arrest-following-a-gadolinium-injection-a-case-of-kounis-syndrome
#11
R Demoulin, R Poyet, E Capilla, M Cardinale, A V Tortat, F Pons, F-X Brocq, C Jego, G Foucault, G-R Cellarier
Kounis syndrome is an allergic acute coronary syndrome. It occurs on healthy or pathological arteries. Its complications, although often benign, can lead to cardiac arrest and death. Its triggering factors are multiple and include contrast products used in diagnostic imaging. We report the case of an 81 years old patient affected by hepatocellular carcinoma, who presented a type 2 Kounis syndrome with inferior myocardial infarction, complicated by cardiac arrest related to complete heart block following a gadoteric acid injection...
November 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#12
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29020406/new-insights-into-mitral-valve-dystrophy-a-filamin-a-genotype-phenotype-and-outcome-study
#13
Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan J J Aalberts, Simon Lecointe, Jean Mérot, Jonathan A Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca N Delling, Romain Capoulade, Albert J H Suurmeijer, David Milan, Russell A Norris, Roger Markwald, Elena Aikawa, Susan A Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noël Trochu, Robert A Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott
Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. Methods and results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive echocardiography focusing on mitral valve apparatus in comparison with control relatives...
September 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28975769/detection-and-genome-sequencing-of-porcine-circovirus-3-in-neonatal-pigs-with-congenital-tremors-in-south-china
#14
G H Chen, K J Mai, L Zhou, R T Wu, X Y Tang, J L Wu, L L He, T Lan, Q M Xie, Y Sun, J Y Ma
Porcine circovirus 3 (PCV3) is a novel circovirus first discovered in the United States in piglets and sows with porcine dermatitis and nephropathy syndrome, reproductive failure, cardiac and multisystemic inflammation. Here, seven PCV3 strains were identified for the first time from neonatal pigs with clinical signs of congenital tremors (CT) in South China. The tissue tropism of PCV3 in CT-affected piglets was analysed by the real-time quantitative PCR, and the result showed that high loads of viral genomes were detected in the brains and hearts...
October 3, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28967461/clinical-manifestations-associated-with-the-n-terminal-acetyltransferase-naa10-gene-mutation-in-a-girl-ogden-syndrome
#15
Mandeep Sidhu, Lauren Brady, Mark Tarnopolsky, Gabriel M Ronen
BACKGROUND: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias. PATIENT DESCRIPTION: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy...
July 19, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28948727/-advances-in-animal-model-and-traditional-chinese-medicine-prevention-in-coronary-microvascular-dysfunction
#16
REVIEW
Lei Li, Jian-Xun Liu, Jian-Xun Ren, Hao Guo, Cheng-Ren Lin
Coronary microvascular dysfunction (CMD) is a common mechanism for some heart disease like cardiac X syndrome and no-reflow phenomenon after percutaneous coronary intervention(PCI). With the development of medical imageology, CMD has received increased attention. Animal model of CMD is indispensable tool for the research of pathogenesis and treatment evaluation, therefor choose an appropriate animal model is the first issue to carry out CMD research. Experimental and clinical studies have shown unique effectiveness of traditional Chinese medicine(TCM) in CMD therapy...
January 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28889793/hemorheological-dysfunction-in-cardiac-syndrome-x
#17
Emine Kilic-Toprak, Olga Yaylali, Yalin Tolga Yaylali, Yasin Ozdemir, Dogangun Yuksel, Hande Senol, Tarık Sengoz, Melek Bor-Kucukatay
BACKGROUND: Cardiac syndrome X (CSX) is often described as angina or angina-like chest pain with a normal coronary arteriogram, yet the underlying pathophysiological mechanisms have not been fully elucidated. The aim of the current study was to determine alterations in blood rheology (erythrocyte aggregation and deformability, plasma viscosity - PV) in patients with CSX. METHODS: The study comprised 26 CSX patients (55.77 ± 12.33 years) and 37 age- and sex-matched (56...
September 11, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28871319/onset-ages-of-hepatopulmonary-syndrome-and-pulmonary-hypertension-in-patients-with-biliary-atresia
#18
Takehisa Ueno, Ryuta Saka, Yuichi Takama, Hiroaki Yamanaka, Yuko Tazuke, Kazuhiko Bessho, Hiroomi Okuyama
PURPOSE: Hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PoPH) are extrahepatic complications of biliary atresia (BA). Their detection is sometimes delayed, which may result in missed opportunities for liver transplantation. The aim of this study was to determine the onset ages of HPS and PoPH in BA patients. METHODS: BA patients followed at our institution were identified. Patients visited our clinic for routine blood work, as well as regular electrocardiography, chest X-rays, and arterial blood gas tests...
October 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28853337/increased-monocyte-to-hdl-cholesterol-ratio-is-related-to-cardiac-syndrome-x
#19
Adnan Dogan, Muhammed Oylumlu
OBJECTIVE: Cardiac syndrome X (CSX) is typically identified with ischaemia in treadmill exercise test or stress myocardial perfusion scintigraphy as well as angina-like chest pain without stenosis in coronary angiography. The purpose of the present study is to investigate the association between cardiac syndrome X and monocyte-to-HDL cholesterol ratio (MHR) which is a new marker associated with inflammation. PATIENTS AND METHODS: A total of 230 patients (105 patients with cardiac syndrome X and 125 normal controls) were included in the study...
August 30, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28819899/significance-of-intravascular-ultrasound-and-exercise-stress-echocardiography-in-diagnosis-of-exercise-induced-vasospastic-angina-at-the-site-of-moderate-stenosis
#20
Makio Muraishi, Kentaro Shibayama, Masahiko Noguchi, Hiroyuki Watanabe, Kotaro Obunai
Recently, exercise-induced spastic coronary artery occlusion at the site of moderate stenosis, which Prinzmetal's angina or cardiac syndrome X does not cover, was reported. Multi-modality imaging is important for the diagnosis of coronary artery disease with a complex ischemic mechanism. However, the previous report did not include findings from intracoronary imaging at the site of moderate coronary stenosis. We report a case of exercise-induced vasospastic angina at the site of moderate stenosis, where multi-modality imaging, including exercise stress echocardiography and intravascular ultrasound, was utilized to make a definitive diagnosis and investigate underlying causes...
August 17, 2017: Journal of Medical Ultrasonics
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