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https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#1
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29326130/inward-rectifier-potassium-channels-kir2-x-and-caveolin-3-domain-specific-interaction-implications-for-purkinje-cell-dependent-ventricular-arrhythmias
#2
Ravi Vaidyanathan, Hanora Van Ert, Kazi T Haq, Stefano Morotti, Samuel Esch, Elise C McCune, Eleonora Grandi, Lee L Eckhardt
BACKGROUND: In human cardiac ventricle, IK1 is mainly comprised Kir2.1, but Kir2.2 and Kir2.3 heterotetramers occur and modulate IK1. Long-QT syndrome-9-associated CAV3 mutations cause decreased Kir2.1 current density, but Kir2.x heterotetramers have not been studied. Here, we determine the effect of long-QT syndrome-9-CAV3 mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms. METHODS AND RESULTS: Super-resolution microscopy, co-immunoprecipitation, cellular electrophysiology, on-cell Western blotting, and simulation of Purkinje and ventricular myocyte mathematical models were used...
January 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29324309/the-promising-future-of-ventricular-restraint-therapy-for-the-management-of-end-stage-heart-failure
#3
REVIEW
Muhammad Naveed, Imran Shair Mohammad, Li Xue, Sara Khan, Wang Gang, Yanfang Cao, Yijie Cheng, Xingxing Cui, Chen DingDing, Yu Feng, Wang Zhijie, Zhou Xiaohui
Complicated pathophysiological syndrome associated with irregular functioning of the heart leading to insufficient blood supply to the organs is linked to congestive heart failure (CHF) which is the leading cause of death in developed countries. Numerous factors can add to heart failure (HF) pathogenesis, including myocardial infarction (MI), genetic factors, coronary artery disease (CAD), ischemia or hypertension. Presently, most of the therapies against CHF cause modest symptom relief but incapable of giving significant recovery for long-term survival outcomes...
January 8, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29296166/multimodal-imaging-for-the-assessment-of-a-cardiac-mass-a-case-of-primary-cardiac-sarcoma
#4
Benjamin Abels, Steffen Pfeiffer, Jana Stix, Johannes Schwab
We present a case of an 85-year-old patient who underwent clinical work-up for chronic heart failure, acute coronary syndrome, and pulmonary embolism, until she was diagnosed with a cardiac mass that was histologically identified as sarcoma. The aim of this educational case report is to raise awareness of cardiac masses and to point out diagnostic hints towards a cardiac tumor on chest X-ray, coronary angiography, echocardiography, and chest CT. Moreover, the vital role of cardiac magnetic resonance for the diagnosis of a cardiac mass is highlighted...
November 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29274187/sex-differences-in-diagnoses-treatment-and-outcomes-for-emergency-department-patients-with-chest-pain-and-elevated-cardiac-troponin
#5
Karin H Humphries, May K Lee, Mona Izadnegahdar, Min Gao, Daniel T Holmes, Frank X Scheuermeyer, Martha Mackay, Andre Mattman, Eric Grafstein
OBJECTIVE: While sex differences in the treatment and outcomes of subjects with acute coronary syndromes are well documented, little is known about the impact of cardiac troponin (cTn) levels obtained in the emergency department (ED) on the observed sex differences. We sought to determine whether cTn levels by chest pain features modify sex differences in diagnosis, treatment and outcomes in patients presenting with chest pain suggestive of ischemia. METHODS: All adults presenting to two hospitals in Vancouver, Canada between May 2008 and Mar 2013 with ischemic chest pain and with cTn testing were included in the study...
December 23, 2017: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/29237676/familial-ebstein-anomaly-whole-exome-sequencing-identifies-novel-phenotype-associated-with-flna
#6
Catherine L Mercer, Gaia Andreoletti, Aisling Carroll, Anthony P Salmon, I Karen Temple, Sarah Ennis
BACKGROUND: Familial Ebstein anomaly is a rare form of congenital heart disease. We report 7 individuals among 2 generations of 1 family with Ebstein anomaly. This family was first reported in 1991 by Balaji et al in which family members were also reported to have a mild skeletal phenotype. The most likely mechanism of inheritance was concluded to be autosomal dominant. We sought to identify the genetic pathogenesis in this family using a next generation sequencing approach. METHODS AND RESULTS: Whole exome sequencing was performed in 2 cousins in this family using the Agilent SureSelect Human all Exon 51 Mb version 5 capture kit...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29215340/a-report-of-brugada-syndrome-presenting-with-cardiac-arrest-triggered-by-verapamil-intoxication
#7
Kahraman Yakut, İlkay Erdoğan, Birgül Varan, İlyas Atar
BACKGROUND: Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. CASE REPORT: A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period...
December 1, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29206850/the-prognostic-value-of-asymmetric-dimethylarginine-in-patients-with-cardiac-syndrome-x
#8
Tse-Min Lu, Tzong-Shyuan Lee, Shing-Jong Lin, Wan-Leong Chan, Chiao-Po Hsu
BACKGROUND: The pathophysiology of cardiac syndrome X is multifactorial and endothelial dysfunction has been implicated as important contributing factor. Asymmetric dimethylarginine (ADMA), characterized as a circulating endogenous inhibitor of nitric oxide synthase, may have been implicated as an important contributing factor for the development of endothelial dysfunction. In this study, we aim to assess the predictive power of ADMA for long-term prognosis in patients with cardiac syndrome X...
2017: PloS One
https://www.readbyqxmd.com/read/29202543/-experts-consensus-on-the-management-of-the-right-heart-function-in-critically-ill-patients
#9
X T Wang, D W Liu, H M Zhang, Y Long, X D Guan, H B Qiu, K J Yu, J Yan, H Zhao, Y Q Tang, X Ding, X C Ma, W Du, Y Kang, B Tang, Y H Ai, H W He, D C Chen, H Chen, W Z Chai, X Zhou, N Cui, H Wang, X Rui, Z J Hu, J G Li, Y Xu, Y Yang, B Ouyan, H Y Lin, Y M Li, X Y Wan, R L Yang, Y Z Qin, Y G Chao, Z Y Xie, R H Sun, Z Y He, D F Wang, Q Q Huang, D P Jiang, X Y Cao, R G Yu, X Wang, X K Chen, J F Wu, L N Zhang, M G Yin, L X Liu, S W Li, Z J Chen, Z Luo
To establish the experts consensus on the right heart function management in critically ill patients. The panel of consensus was composed of 30 experts in critical care medicine who are all members of Critical Hemodynamic Therapy Collaboration Group (CHTC Group). Each statement was assessed based on the GRADE (Grading of Recommendations Assessment, Development, and Evaluation) principle. Then the Delphi method was adopted by 52 experts to reassess all the statements. (1) Right heart function is prone to be affected in critically illness, which will result in a auto-exaggerated vicious cycle...
December 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29198139/evaluation-of-the-coronary-flow-by-the-coronary-clearance-time-in-patients-with-cardiac-syndrome-x
#10
Erkan Yildirim, Uygar Cagdas Yuksel, Murat Celik, Baris Bugan, Mutlu Gungor, Yalcin Gokoglan, Mustafa Koklu, Suat Gormel, Salim Yasar, Cem Barcin
Objective The vessels involved in the microcirculation are too small to be visualized by conventional angiography and no tools are currently available that can directly evaluate the coronary microcirculation. This study evaluated the coronary clearance frame count (CCFC) in patients with cardiac syndrome X (CSX). Methods The retrospective study enrolled patients with angina, who had a positive nuclear imaging test and normal coronary angiography; and a control group consisting of patients who underwent an angiogram to exclude coronary artery disease...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29193635/inactivation-of-ammecr1-is-associated-with-growth-bone-and-heart-alterations
#11
Mariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, Jill A Rosenfeld, Florence Petit, Maria de Fatima Soares, Leslie Domenici Kulikowski, Adriana Di Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G Seaby, Sarah Ennis, Rodney D Gilbert, R Tanner Hagelstrom, Maria L Cremona, Wenhui L Li, Alka Malhotra, Anjana Chandrasekhar, Denise L Perry, Ryan J Taft, Julie McCarrier, Donald G Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo José Pereira, Marguerite Neerman-Arbez, Vera Ayres Meloni, Margaret Drummond-Borg, Maria Isabel Melaragno, Alexandre Reymond
We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome; two boys with maternally-inherited and de novo nonsense variants; and two half-brothers with maternally inherited microdeletion variants. They present with short stature, cardiac and skeletal abnormalities and hearing loss. Variants of unknown significance in AMMECR1 in four male patients from two families with partially overlapping phenotypes were previously reported...
November 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29166721/-a-preliminary-study-on-the-relationship-between-idiopathic-arrhythmia-and-cardiac-magnetic-resonance-imaging-defined-cardiac-features-in-patients-with-straight-back-syndrome
#12
L Chen, X H Ma, L Zhao, R Bai, S N Li, L Wang, H Chen, Z M Fan, M W Lou, Y D Niu
Objective: To retrospectively analyze the potential correlation between cardiac magnetic resonance (CMR) imaging and clinical features and idiopathic arrhythmia in patients with straight back syndrome (SBS). Methods: Patients receiving CMR imaging examination from April 2015 to March 2016 at our department (n=1 432) were screened, 76 patients met the diagnosis criteria of flat chest (anteroposterior diameter/transthoracic diameter (APD/TTD) ratio<0.37 at the T8 vertebra). After excluding 33 patients with structural heart disease, 43 SBS patients were divided into two groups: SBS without obvious morphological change in the heart (group A, n=19) and SBS with morphological change of the heart (group B, n=24)...
November 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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