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cardiac syndrome x

Markus Zutt, Hagen Rudolph, Kjell Matthias Kaune, Werner Wosniok, Ulrich Gärtner, Rainer Linke
BACKGROUND: In recent years, cardiac comorbidities in psoriasis patients have increasingly moved into the focus of clinical research. The objective of the present study was to evaluate myocardial scintigraphy as a screening method in patients with psoriasis. PATIENTS AND METHODS: Assessment of various comorbidities in 50 psoriasis patients without clinical symptoms of cardiac disease. Myocardial scintigraphy was employed to detect cardiac risk/exercise-induced ischemia...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Jacinthe Leclerc, Marie Arsenault, Jean-Pierre Després, Patrice Brassard, Valérie Gaudreault, Jean Bergeron, Natalie Alméras, Angelo Tremblay, Audrey Auclair, Marie-Kristelle Ross, Stéphanie Denault-Bissonnette, Paul Poirier
BACKGROUND: Abdominal obesity and presence of the metabolic syndrome (MetS) are associated with cardiac abnormalities. Among those, left ventricular diastolic dysfunction (LVDD) is the most frequently encountered in clinical practice. Few studies evaluated the reversibility of LVDD by an approach promoting lifestyle modifications in abdominally obese subjects with MetS. METHODS: We assessed the impact of a 1-year lifestyle modification program combining nutritional and physical activity counseling on LVDD and metabolic profile of abdominally obese men with MetS...
October 18, 2016: Metabolic Syndrome and related Disorders
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Giulia Carini, Valeria Cinquina, Nicola Chiarelli, Silvia Majore, Marina Colombi, Marco Castori
Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers-Danlos syndrome (EDS) with periventricular heterotopias" has been used in females with neurological, cardiovascular, integument and joint manifestations, but this nosology is still a matter of debate...
October 14, 2016: American Journal of Medical Genetics. Part A
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
Mohamed F Lutfi
Previous studies assessing effect of ischemia on ventricular repolarization are mostly directed toward patients with coronary artery disease (CAD); however, similar reports on cardiac syndrome X (CSX) are scarce. Whether microvascular dysfunction of CSX and ischemia induced by CAD produce comparable effect on ventricular repolarization is unclear and deserve further studies. In the present study, ECG measures of ventricular repolarization were compared between CAD and CSX patients (40 subjects in each group)...
2016: Frontiers in Physiology
Aziz İnan Çelik, Ali Deniz, Mustafa Tangalay, Muhammet Buğra Karaaslan, Emine Bağır Kılıç
Eosinophilic myocarditis (EM) is a rare form of myocarditis that usually presents with heart failure due to eosinophilic infiltration. EM is often a component of hypereosinophilic syndrome (HES). HES is a rare disorder characterized by persistent, marked eosinophilia combined with organ system dysfunction. A 38-year-old man was admitted to emergency services with left inguinal pain and fever, and was hospitalized with diagnosis of nephrolithiasis and urinary tract infection. Intravenous antibiotic therapy of 3 grams meropenem per day and analgesic of 50 mg pethidine per day were administered...
September 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, Philip Sweet, Alexander N Yatsenko, Nijole Pollock, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko, Selma Feldman Witchel
Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies...
September 20, 2016: American Journal of Medical Genetics. Part A
Yousef Rasmi, Javad Zeynalzadeh, Alireza Shirpoor, Mirhossein Seyedmohammadzad, Reza Hajhosseini
INTRODUCTION: Chronic inflammation caused by Helicobacter pylori (H.pylori) infection has a pathogenic role in Cardiac Syndrome X (CSX). In addition, it has shown that bacterial infection may affect blood lipids. AIM: To assess if H.pylori affects the level of lipid profile in CSX. MATERIALS AND METHODS: Eighty-eight CSX patients and 97 healthy controls were enrolled. The Total Cholesterol (TC), Triglyceride (TG), Lipoprotein A (LP{A}), Low Density Lipoprotein (LDL), High Density Lipoprotein (HDL), Apoprotein A1 (APOA1), and Apoprotein B (APOB) was estimated colorimetrically...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
Siddharth K Prakash, Carolyn A Bondy, Cheryl L Maslen, Michael Silberbach, Angela E Lin, Laura Perrone, Giuseppe Limongelli, Hector I Michelena, Eduardo Bossone, Rodolfo Citro, Scott A Lemaire, Simon C Body, Dianna M Milewicz
Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13...
September 8, 2016: American Journal of Medical Genetics. Part A
David T Mage, Maria Luisa Latorre, Alejandro G Jenik, E Maria Donner
INTRODUCTION: The cause of the sudden infant death syndrome (SIDS) is perhaps the oldest of unsolved mysteries of medicine, possibly dating back to Exodus in Biblical times when Egyptian children died in their sleep as if from a plague. It occurs when infants die unexpectedly with no sufficient cause of death found in a forensic autopsy, including death scene investigation and review of medical history. That SIDS is an X-linked recessive death from infectious respiratory disease of a physiologically anemic infant and not a simple anomalous cardiac or neurological condition is an extraordinary claim that requires extraordinary evidence...
2016: Frontiers in Neurology
G F Yan, C M Zhang, X Y Hong, Y Wang, C F Liu, P F Zhang, L Xiang, G F Wen, Z H Yang, X Xu, S Y Qian, G P Lu
OBJECTIVE: To review the use of non-open chest extracorporeal membrane oxygenation (ECMO) in pediatric intensive care unit (PICU) in China. METHOD: The survey was conducted in 28 tertiary hospitals in China mainland from March to October 2015. All children <18 years of age have been supported with non-open chest ECMO in PICU were reviewed.Patient demographics, diagnosis, indication for ECMO, details of ECMO support, complications, and patient survival were analyzed...
September 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Arthur A M Wilde, Arthur J Moss, Elizabeth S Kaufman, Wataru Shimizu, Derick R Peterson, Jesaia Benhorin, Coeli Lopes, Jeffrey A Towbin, Carla Spazzolini, Lia Crotti, Wojciech Zareba, Ilan Goldenberg, Jørgen K Kanters, Jennifer L Robinson, Ming Qi, Nynke Hofman, David J Tester, Connie R Bezzina, Marielle Alders, Takeshi Aiba, Shiro Kamakura, Yoshihiro Miyamoto, Mark L Andrews, Scott McNitt, Bronislava Polonsky, Peter J Schwartz, Michael J Ackerman
BACKGROUND: Risk stratification in patients with type 3 long-QT syndrome (LQT3) by clinical and genetic characteristics and effectiveness of β-blocker therapy has not been studied previously in a large LQT3 population. METHODS: The study population included 406 LQT3 patients with 51 sodium channel mutations; 391 patients were known to be event free during the first year of life and were the focus of our study. Clinical, electrocardiographic, and genetic parameters were acquired for patients from 7 participating LQT3 registries...
September 20, 2016: Circulation
Laurie Beth Griffin, Frances A Farley, Anthony Antonellis, Catherine E Keegan
Mutations in FGD1 cause Aarskog-Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 mutation in a family with atypical features of AAS, specifically bilateral upper and lower limb congenital joint contractures and cardiac abnormalities. The male proband and his affected maternal uncle are hemizygous for the novel FGD1 mutation p.Arg921X. This variant is the most carboxy-terminal FGD1 mutation identified in a family with AAS and is predicted to truncate the FGD1 protein at the second to last amino acid of the carboxy-terminal pleckstrin homology (PH) domain...
July 2016: Cold Spring Harbor Molecular Case Studies
Richard W Harbron, Claire-Louise Chapple, John J O'Sullivan, Kate E Best, Amy Berrington de González, Mark S Pearce
OBJECTIVES: To estimate the risk of developing cancer in relation to the typical radiation doses received from a range of X-ray guided cardiac catheterisations in children, taking variable survival into account. METHODS: Radiation doses were estimated for 2749 procedures undertaken at five UK hospitals using Monte Carlo simulations. The lifetime attributable risk (LAR) of cancer incidence was estimated using models developed by the Biological Effects of Ionising Radiation committee, based on both normal life expectancy, and as a function of attained age, from 20 to 80 years, to take reduced life expectancy into account...
August 18, 2016: Heart: Official Journal of the British Cardiac Society
Ljuba Bacharova
No abstract text is available yet for this article.
August 2016: Anatolian Journal of Cardiology
Paul D Ross, Jacky Guy, Jim Selfridge, Bushra Kamal, Noha Bahey, K Elizabeth Tanner, Thomas H Gillingwater, Ross A Jones, Christopher M Loughrey, Charlotte S McCarroll, Mark E S Bailey, Adrian Bird, Stuart Cobb
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. To determine whether aspects of the RTT phenotype that originate in non-neuronal tissues might have been overlooked, we generated mice in which Mecp2 remains at near normal levels in the nervous system, but is severely depleted elsewhere...
August 9, 2016: Human Molecular Genetics
Irene Bottillo, Carla Giordano, Bruna Cerbelli, Daniela D'Angelantonio, Martina Lipari, Taisia Polidori, Silvia Majore, Enrico Bertini, Adele D'Amico, Diana Giannarelli, Carmelilia De Bernardo, Laura Masuelli, Francesco Musumeci, Andrea Avella, Federica Re, Elisabetta Zachara, Giulia d'Amati, Paola Grammatico
BACKGROUND: Danon disease (DD) is a rare disorder characterized by cardiomyopathy, intellectual disability, and proximal myopathy. It is caused by mutations in the LAMP2 gene on X chromosome. Female patients most often present with late-onset cardiomyopathy and slow disease progression, but early-onset cases with unfavorable prognosis have been reported. CASE REPORT: We describe the clinical, pathological, and molecular features of a novel LAMP2 c.453delT mutation in a female patient with severe hypertrophic cardiomyopathy, Wolff Parkinson White (WPW) syndrome and rapid progression to heart failure, requiring heart transplant...
September 2016: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
Lijun Fu, Sushan Luo, Shuang Cai, Wenjing Hong, Ying Guo, Jinjin Wu, Tingliang Liu, Chongbo Zhao, Fen Li, Huimin Huang, Meirong Huang, Jian Wang
Danon disease is an X-linked disorder with the clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Early diagnosis of this disease remains a challenge, especially in the pediatric population. In this study, we developed a targeted panel-based next generation sequencing pipeline to identify mutations by sequencing of selected candidate genes in 136 pediatric patients with either hypertrophic cardiomyopathy (HC) or idiopathic dilated cardiomyopathy (IDC). This led to the identification of lysosome-associated membrane protein 2 (LAMP2) mutations in 4 of the 64 (6%) probands with HC, including 3 novel nonsense mutations (p...
September 15, 2016: American Journal of Cardiology
Jeong-Eun Yi, Ho-Joong Youn
AIM: The role of elevated whole blood viscosity (WBV) in the pathogenesis of atherosclerosis is well known. We sought to investigate the gender differences in the association between WBV, coronary blood flow and tissue oxygen delivery index (TODI) in cardiac syndrome X (CSX). METHODS: Forty-six CSX patients and 14 healthy volunteers were enrolled. The coronary flow parameters were obtained with transthoracic Doppler echocardiography and WBV was measured (at high-shear and low-shear rates of 300s(-1) and 5s(-1), respectively) using a scanning capillary tube viscometer...
July 20, 2016: Perfusion
Fabiano C Ferreira, Danilo R Bertucci, Marina R Barbosa, Joao E Nunes, Joao P Botero, Maria F Rodrigues, Gilberto E Shiguemoto, Valdir Santoro, Ana C Verzola, Rodrigo O Nonaka, Roberto M Verzola, Vilmar Baldissera, Sergio Perez
BACKGROUND: Normal weight obesity (NWO) syndrome has been characterised in subjects with normal BMI and high body fat mass percentage (BF% >30 for women) being a risk factor for cardiometabolic dysregulation and cardiovascular mortality. This study evaluated whether circuit resistance training (CRT) improves body composition, heart size and function, cardiometabolic parameters, and cardiorespiratory, cardiovascular and skeletal muscle fitness in women with NWO. METHODS: Data are means [95% Confidence Interval]...
July 6, 2016: Journal of Sports Medicine and Physical Fitness
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