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https://www.readbyqxmd.com/read/28097735/autoimmune-enteropathy-and-hepatitis-in-pediatric-heart-transplant-recipient
#1
Kimberly Lewis, Ryan Butts, J Antonio Quiros, Michelle Hudspeth, Katherine Twombley, Andrew Savage, Sally Self, Ali Burnette, Shaoli Sun
AIE is a rare disorder in children that presents with severe diarrhea and malabsorption, caused by immune-mediated damage to intestinal mucosa. AIE is often associated with various syndromes of immunodeficiency including IPEX syndrome (immune dysregulation, polyendocrinopathy and enteropathy, X-linked). Dysfunctional T regulatory cells are the source of pathology in both IPEX syndrome and AIE as they are essential in maintaining tolerance to self-antigens and eliminating autoreactive B cells. This case report describes a 10-year-old cardiac transplant and total thymectomy patient on chronic immunosuppression with tacrolimus that presented with AIE and extraintestinal manifestations of cyclical hepatitis...
January 17, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28090047/platypnea-orthodeoxia-syndrome-in-a-patient-with-an-atrial-septal-defect-the-diagnosis-and-choice-of-treatment
#2
Shuichiro Kazawa, Takashi Enomoto, Naomasa Suzuki, Tomoyasu Koshikawa, Yuka Okubo, Shinpei Yoshii, Masahito Sato, Masaaki Okabe, Akira Yamashina, Yoshifusa Aizawa
A 77-year-old woman developed dyspnea over three years which occurred during sitting, standing or walking. Her physical examination, chest X-ray, ECG and cardiac catheterization results were all normal. A marked fall in arterial oxygen saturation was observed on sitting or standing. Transesophageal echocardiography showed an increase of right to left shunt flow on sitting. The patient was diagnosed with platypnea-orthodeoxia syndrome and underwent the surgical closure of an atrial septal defect of 19 mm in diameter...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28077467/gut-microbiota-dependent-trimethylamine-n-oxide-in-acute-coronary-syndromes-a-prognostic-marker-for-incident-cardiovascular-events-beyond-traditional-risk-factors
#3
Xinmin S Li, Slayman Obeid, Roland Klingenberg, Baris Gencer, François Mach, Lorenz Räber, Stephan Windecker, Nicolas Rodondi, David Nanchen, Olivier Muller, Melroy X Miranda, Christian M Matter, Yuping Wu, Lin Li, Zeneng Wang, Hassan S Alamri, Valentin Gogonea, Yoon-Mi Chung, W H Wilson Tang, Stanley L Hazen, Thomas F Lüscher
AIMS: Systemic levels of trimethylamine N-oxide (TMAO), a pro-atherogenic and pro-thrombotic metabolite produced from gut microbiota metabolism of dietary trimethylamine (TMA)-containing nutrients such as choline or carnitine, predict incident cardiovascular event risks in stable primary and secondary prevention subjects. However, the prognostic value of TMAO in the setting of acute coronary syndromes (ACS) remains unknown. METHODS AND RESULTS: We investigated the relationship of TMAO levels with incident cardiovascular risks among sequential patients presenting with ACS in two independent cohorts...
January 11, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28070695/barth-syndrome-connecting-cardiolipin-to-cardiomyopathy
#4
REVIEW
Nikita Ikon, Robert O Ryan
The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid-uria, skeletal muscle weakness and cardiomyopathy. The underlying cause of BTHS has been definitively traced to mutations in the tafazzin (TAZ) gene locus on chromosome X. TAZ encodes a phospholipid transacylase that promotes cardiolipin acyl chain remodeling. Absence of tafazzin activity results in cardiolipin molecular species heterogeneity, increased levels of monolysocardiolipin and lower cardiolipin abundance...
January 9, 2017: Lipids
https://www.readbyqxmd.com/read/28068419/anxiety-level-and-cardiac-autonomic-modulations-in-coronary-artery-disease-and-cardiac-syndrome-x-patients
#5
Mohamed Faisal Lutfi
BACKGROUND: Anxiety and cardiac autonomic modulations (CAM) were thoroughly investigated in coronary artery disease (CAD) and cardiac syndrome X (CSX) patients worldwide, but not among Sudanese with similar pathology. AIMS: To compare levels of anxiety and CAM between Sudanese patients with CSX and CAD. MATERIALS AND METHODS: Anxiety was evaluated in 51 CAD and 26 CSX patients using Taylor Manifest anxiety score (TMAS) questionnaire while heart rate variability derived indices were used to assess CAM, namely natural logarithm of low frequency (LnLF), high frequency (LnHF) and LF/HF ratio (LnLF/HF)...
2017: PloS One
https://www.readbyqxmd.com/read/28062374/proteomic-analysis-of-the-rett-syndrome-experimental-model-mecp2-q63x-mutant-zebrafish
#6
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/28053922/adropin-a-novel-biomarker-of-heart-disease-a-systematic-review-article
#7
REVIEW
Somaye Yosaee, Sepideh Soltani, Eghbal Sekhavati, Shima Jazayeri
BACKGROUND: Heart disease is one of the most common chronic disease and leading cause of morbidity and mortality worldwide. Adropin, a newly identified protein, is important for energy homeostasis and maintaining insulin sensitivity, and has been referred to as a novel regulator of endothelial cells. Endothelial dysfunction is a key early event in atherogenesis and onset of HD. Therefore, this review gives a systematic overview of studies investigating plasma adropin level in patient with heart disease...
December 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27999825/is-there-a-relationship-between-non-obstructive-coronary-artery-disease-or-cardiac-syndrome-x-and-migraine-an-integrated-multi-disciplinary-approach
#8
EDITORIAL
Reza Nemati, Iraj Nabipour, Mehdi Akbarzadeh, Majid Assadi
Non-obstructive coronary artery disease (CAD) which is mostly called cardiac syndrome X (CSX) is noted in about 30% of men and 40%-60% of women and seems to be incremental. In addition, frequent myocardial perfusion defects with various levels of severity are often seen in this disease. Recently, we noticed that the frequency of migraine in patients with CSX was noticeably higher than in healthy people and in CAD patients. This may support the evolving story that CSX is related to migraine and to chest pain and that CSX and migraine may have a similar pathophysiology...
September 2016: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/27942464/short-term-caloric-restriction-in-db-db-mice-improves-myocardial-function-and-increases-high-molecular-weight-hmw-adiponectin
#9
X Julia Xu, Erma Babo, Fuzhong Qin, Dominique Croteau, Wilson S Colucci
BACKGROUND: Obesity and metabolic syndrome lead to the development of metabolic heart disease (MHD) that is characterized by left ventricular hypertrophy (LVH), diastolic dysfunction, and increased mitochondrial ROS. Caloric restriction (CR) is a nutritional intervention that protects against obesity, diabetes, and cardiovascular disease. Healthy adipose tissue is cardioprotective via releasing adipokines such as adiponectin. We tested the hypothesis that CR can ameliorate MHD and it is associated with improved adipose tissue function as reflected by increased circulating levels of high molecular weight (HMW) adiponectin and AMP-activated protein kinase (AMPK) in db/db mice...
December 2016: IJC Metabolic & Endocrine
https://www.readbyqxmd.com/read/27931181/platelet-aggregation-and-risk-of-stent-thrombosis-or-bleeding-in-interventionally-treated-diabetic-patients-with-acute-coronary-syndrome
#10
K Kukula, M Klopotowski, P K Kunicki, J Jamiolkowski, A Debski, P Bekta, M Polanska-Skrzypczyk, Z Chmielak, A Witkowski
BACKGROUND: Platelet aggregation monitoring in diabetic patients treated with coronary interventions (PCI) for an acute coronary syndrome (ACS) is a promising way of optimizing treatment and outcomes in this high risk group. The aim of the study was to verify whether clopidogrel response measured by Multiplate analyzer (ADPtest) in diabetic ACS patients treated with PCI predicts the risk of stent thrombosis or cardiovascular mortality and bleeding. METHODS: Into this prospective, observational study 206 elective PCI patients were enrolled...
December 8, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27916030/-short-term-outcomes-of-lung-transplant-recipients-using-organs-from-brain-death-donors
#11
W X He, C Jiang, X G Liu, W Huang, C Chen, L Jiang, B Yang, K Wu, Q K Chen, Y Yang, Y M Yu, G N Jiang
Objective: To assess short-term outcomes after lung transplantation with organs procured following brain death. Methods: Between April 2015 and July 2016, all 17 recipients after lung transplantation using organs from brain death donors (DBD) at Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University School of Medicine were enrolled in this study. All patients were male, aging (60±7) years, including 11 chronic obstructive pulmonary disease, 5 idiopathic pulmonary fibrosis, 1 silicosis...
December 1, 2016: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#12
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27909513/assessment-of-sinoatrial-node-function-in-patients-with-persistent-and-long-standing-persistent-forms-of-atrial-fibrillation-after-maze-iii-procedure-combined-with-mitral-valve-operation
#13
Kulikov Aleksei A, Bokeria Leo A
RESEARCH OBJECTIVE: Assessment of sinoatrial node function after Maze III procedure combined with a mitral valve operation. METHODS: 100 patients were included in the research with persistent and long-standing persistent forms of atrial fibrillation (AF) and need of operative treatment concerning valve disease. The following preoperative preparation methods were executed to all patients: Electrocardiogram in 12 standard assignments;Two-dimensional echocardiographic with assessment of systolic and diastolic functions of the left ventricle, size of the left atrium and grade of valve disease;Transesophageal echocardiography for exclusion of blood clots in the left atrium and left atrial appendage;Coronary angiography for exclusion of coronary heart disease;Computer tomography for examination of cardiac chambers and anatomic characteristics of pulmonary veins...
June 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27909498/shock-lead-dislodgement-related-to-its-small-hair-pin-curve-in-a-pocket-a-case-of-ratchet-syndrome
#14
Yuka Taguchi, Kohei Matsushita, Toshiyuki Ishikawa, Yutaka Ogino, Hirooki Matsushita, Junya Hosoda, Katsumi Matsumoto, Satoshi Umemura
There have been few reports about ratchet syndrome. We report a case of ratchet syndrome caused by small hair-pin curve of lead that triggered the lead retract itself. A 69-year-old man with a past history of inferior wall myocardial infarction, presented with progressive congestive heart failure. He underwent implantation of cardiac resynchronization therapy with an implantable cardiac defibrillator (CRTD) at our hospital. At 33 days after implantation, shock lead dislodgement was revealed. X-ray showed that the lead tip was in left subclavian vein, leaving its screw out, and a large part of the proximal portion of the lead was retracted into the pocket, while the other two leads remained in appropriate positions and the device had not rotated...
April 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27904840/surgical-experience-on-chronic-constrictive-pericarditis-in-african-setting-review-of-35-years-experience-in-cote-d-ivoire
#15
Koffi Herve Yangni-Angate, Yves Tanauh, Christophe Meneas, Florent Diby, Anicet Adoubi, Manga Diomande
BACKGROUND: Surgical experience with chronic constrictive pericarditis (CCP) is rarely documented in Africa; the aim of this study is therefore to review our African experience with CCP from 1977 to 2012 in terms of clinical and surgical outcomes and risk factors of early death after pericardiectomy. METHODS: This retrospective study is related to 120 patients with CCP; there were 72 men and 48 women with an average age at 28.8±10.4 years standard deviation (SD) (8-51 years)...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#16
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27899069/gastric-dilatation-and-intestinal-obstruction-mimicking-acute-coronary-syndrome-with-dynamic-electrocardiographic-changes
#17
H M M T B Herath, Anne Thushara Matthias, B S D P Keragala, W A E Udeshika, Aruna Kulatunga
BACKGROUND: ST elevation myocardial infarction is a medical emergency and the electrocardiogram is a part of the mainstay in the initial diagnosis. A variety of non-cardiac conditions have been known to mimic the electrocardiographic changes seen in acute coronary syndrome. We present a patient presenting with acute partial intestinal obstruction causing gastric distension and intestinal dilatation who also had dynamic electrocardiographic changes, mimicking anterior ST elevation myocardial infarction...
November 29, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27896330/biventricular-thrombus-in-hypereosinophilic-syndrome-presenting-with-shortness-of-breath
#18
Abdul Baqi, Shahan Waheed, Fateh Ali Tipoo, Aamir Hameed Khan
A 48 years old male presented to clinic with 12 months of low grade fever with shortness of breath which has progressively worsened with no associated weight loss, night sweats or loss of appetite. There was no prior history of chronic illness before the current illness. Laboratory workup revealed a high white blood cell count with predominant eosinophils. Chest X-ray was normal. Transthoracic echocardiography and Cardiac Magnetic Resonance showed biventricular thrombi. On further extensive workup the findings were consistent with hypereosinophilic syndrome...
June 2016: Turkish Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27884380/association-of-endothelial-dysfunction-and-cytotoxin-associated-gene-a-positive-helicobacter-pylori-in-patients-with-cardiac-syndrome-x
#19
COMMENT
Yousef Rasmi, Hadi Rouhrazi, Ebrahim Khayati-Shal, Alireza Shirpoor, Ehsan Saboory
BACKGROUND: Existence of coronary endothelial dysfunction has been demonstrated in patients with cardiac syndrome X (CSX). In addition, Helicobacter pylorus (H. pylori) has been associated with CSX. We aimed to assess the possible association of endothelial dysfunction and cytotoxin-associated gene A-positive H. pylori (CagA+) infection in CSX patients. METHODS: Fifty-six patients with CSX (23 male/33 female; age: 51.25 ± 8.86 years) who were anti-H. pylori IgG-positive [H...
October 2016: Biomedical Journal
https://www.readbyqxmd.com/read/27817779/-identification-of-a-novel-jag1-mutation-in-a-family-affected-by-alagille-syndrome
#20
Ying Cheng, Shu-Tao Zhao, Li Guo, Mei Deng, Qing Zhou, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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