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Cardiac genetics

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https://www.readbyqxmd.com/read/28819893/-cochlear-implantation-in-a-girl-with-7q-microdeletion-syndrome
#1
A Roemer, T Lenarz, A Lesinski-Schiedat
One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations...
August 17, 2017: HNO
https://www.readbyqxmd.com/read/28819303/automated-segmentation-of-light-sheet-fluorescent-imaging-to-characterize-experimental-doxorubicin-induced-cardiac-injury-and-repair
#2
René R Sevag Packard, Kyung In Baek, Tyler Beebe, Nelson Jen, Yichen Ding, Feng Shi, Peng Fei, Bong Jin Kang, Po-Heng Chen, Jonathan Gau, Michael Chen, Jonathan Y Tang, Yu-Huan Shih, Yonghe Ding, Debiao Li, Xiaolei Xu, Tzung K Hsiai
This study sought to develop an automated segmentation approach based on histogram analysis of raw axial images acquired by light-sheet fluorescent imaging (LSFI) to establish rapid reconstruction of the 3-D zebrafish cardiac architecture in response to doxorubicin-induced injury and repair. Input images underwent a 4-step automated image segmentation process consisting of stationary noise removal, histogram equalization, adaptive thresholding, and image fusion followed by 3-D reconstruction. We applied this method to 3-month old zebrafish injected intraperitoneally with doxorubicin followed by LSFI at 3, 30, and 60 days post-injection...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818208/catecholamine-dependent-%C3%AE-adrenergic-signaling-in-a-pluripotent-stem-cell-model%C3%A2-of-takotsubo-cardiomyopathy
#3
Thomas Borchert, Daniela Hübscher, Celina I Guessoum, Tuan-Dinh D Lam, Jelena R Ghadri, Isabel N Schellinger, Malte Tiburcy, Norman Y Liaw, Yun Li, Jan Haas, Samuel Sossalla, Mia A Huber, Lukas Cyganek, Claudius Jacobshagen, Ralf Dressel, Uwe Raaz, Viacheslav O Nikolaev, Kaomei Guan, Holger Thiele, Benjamin Meder, Bernd Wollnik, Wolfram-Hubertus Zimmermann, Thomas F Lüscher, Gerd Hasenfuss, Christian Templin, Katrin Streckfuss-Bömeke
BACKGROUND: Takotsubo syndrome (TTS) is characterized by an acute left ventricular dysfunction and is associated with life-threating complications in the acute phase. The underlying disease mechanism in TTS is still unknown. A genetic basis has been suggested to be involved in the pathogenesis. OBJECTIVES: The aims of the study were to establish an in vitro induced pluripotent stem cell (iPSC) model of TTS, to test the hypothesis of altered β-adrenergic signaling in TTS iPSC-cardiomyocytes (CMs), and to explore whether genetic susceptibility underlies the pathophysiology of TTS...
August 22, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28818065/case-reports-of-two-pedigrees-with-recessive-arrhythmogenic-right-ventricular-cardiomyopathy-associated-with-homozygous-thr335ala-variant-in-dsg2
#4
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W Koskenvuo
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION: We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c...
August 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#5
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815496/injection-based-delivery-of-cell-permeable-peptide-tagged-cre
#6
Wei-Ming Chien, Yonggang Liu, Ana A Dinca, Michael T Chin
The technique of Cre-mediated DNA recombination at loxP sites has been used widely in manipulation of the genome in cultured cells and in living organisms. Local delivery of Cre recombinase protein tagged with a cell-penetrating (or permeable) peptide (Cre-CPP) has the advantage of additional spatial and temporal control when compared to genetic delivery methods. In this chapter, we describe protocols for injection-based intramuscular delivery of Cre-CPP dissolved in hydrogel to skeletal muscle and by ultrasound-guided injection to cardiac muscle in mice...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28813232/understanding-peripartum-cardiomyopathy
#7
Zoltan Arany
Peripartum cardiomyopathy (PPCM) is the unexplained loss of maternal cardiac systolic function in the period surrounding parturition. PPCM affects women worldwide and is a leading cause of maternal mortality. The cause of PPCM has remained elusive until recently. We review here the epidemiology of PPCM, recent findings that strongly indicate hormonal and genetic contributions to the development of PPCM, and implications for the management of women with PPCM. Expected final online publication date for the Annual Review of Medicine Volume 69 is January 29, 2018...
August 16, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28812208/genetic-testing-in-inherited-heart-diseases-practical-considerations-for-clinicians
#8
REVIEW
Melanie Care, Vijay Chauhan, Danna Spears
PURPOSE OF REVIEW: Genetic testing has become an important element in the care of patients with inherited cardiac conditions (ICCs). The purpose of this review is to provide clinicians with insights into the utility of genetic testing as well as challenges associated with interpreting results. RECENT FINDINGS: Genetic testing may be indicated for individuals who are affected with or who have family histories of various ICCs. Various testing options are available and determining the most appropriate test for any given clinical scenario is key when interpreting results...
August 16, 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28810874/sudden-cardiac-death-focus-on-the-genetics-of-channelopathies-and-cardiomyopathies
#9
REVIEW
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope...
August 15, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28810115/current-guidelines-on-syncope
#10
Maheedhar Gedela, Naveen Rajpurohit, Kashif A Shaikh, Muhammad Omar, Scott Pham
Syncope is a very commonly encountered clinical problem in general practice and in the emergency department. In the evaluation of syncope, it is important to identify the specific cause to determine the treatment, to estimate the precise risk to a patient, and to reduce recurrence. Sometimes, making a diagnosis of syncope is difficult, as different mechanisms may often coexist. Syncope causes a significant impact on quality of life due to associated risk of physical injury. In particular, syncope can be a precursor to sudden cardiac death in patients with underlying cardiac disease...
November 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28808507/cyp2c19-genetic-variation-and-individualized-clopidogrel-prescription-in-a-cardiology-clinic
#11
Seyed Abbas Mirabbasi, Koroush Khalighi, Yin Wu, Stanley Walker, Bahar Khalighi, Wuqiang Fan, Archana Kodali, Gang Cheng
Background: Clopidogrel (Plavix) is an antiplatelet medication that is routinely used in patients with cardiovascular disease. Cytochrome P2C19 enzymes play a major role in its metabolism, which determines its varied therapeutic level and its effectiveness. Objectives: To customize clopidogrel therapy and evaluate its efficacy by using CYP2C19 genotypic and phenotypic information to improve clinical outcomes in patients. Methods: A total of 465 patients with underlying cardiovascular disease were selected from our out-patient cardiology clinic...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28808498/functional-cellular-and-molecular-remodeling-of-the-heart-under-influence-of-oxidative-cigarette-tobacco-smoke
#12
REVIEW
Abdullah Kaplan, Emna Abidi, Rana Ghali, George W Booz, Firas Kobeissy, Fouad A Zouein
Passive and active chronic cigarette smoking (CS) remains an international epidemic and a key risk factor for cardiovascular disease (CVD) development. CS-induced cardiac damage is divided into two major and interchangeable mechanisms: (1) direct adverse effects on the myocardium causing smoking cardiomyopathy and (2) indirect effects on the myocardium by fueling comorbidities such as atherosclerotic syndromes and hypertension that eventually damage and remodel the heart. To date, our understanding of cardiac remodeling following acute and chronic smoking exposure is not well elucidated...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28808085/sub-mitochondrial-localization-of-genetic-tagged-mib-interacting-partners-mic19-mic60-and-sam50
#13
Mira Sastri, Manjula Darshi, Mason Mackey, Ranjan Ramachandra, Saeyeon Ju, Sebastien Phan, Stephen Adams, Kathryn Stein, Christopher R Douglas, Jiwan John Kim, Mark H Ellisman, Susan S Taylor, Guy A Perkins
Each mitochondrial compartment contains varying protein compositions that underlie a diversity of localized functions. Insights into the localization of mitochondrial intermembrane space bridging (MIB) components will have an impact on our understanding of mitochondrial architecture, dynamics and function. Using the novel visualizable genetic tags miniSOG and APEX2 in cultured mouse cardiac and human astrocyte cell lines and electron tomography, we have mapped at nanoscale resolution three key MIB components: Mic19, Mic60 and Sam50, in the environment of structural landmarks such as cristae and crista junctions (CJs)...
August 14, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28807900/heart-morphogenesis-gene-regulatory-networks-revealed-by-temporal-expression-analysis
#14
Jonathon T Hill, Bradley Demarest, Megan Smith, Bushra Gorsi, H Joseph Yost
During embryogenesis, the heart forms as a linear tube that then undergoes multiple simultaneous morphogenetic events to obtain its mature shape. To understand the gene regulatory networks (GRNs) driving this phase of heart development, during which many congenital heart disease malformations likely arise, we conducted an RNA-seq time course in zebrafish from 30 hpf to 72 hpf and identified 5,861 genes with altered expression. We then clustered the genes by temporal expression pattern, identified transcription factor binding motifs enriched in each cluster, and generated a model GRN for the major gene batteries in heart morphogenesis...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28807154/total-internal-reflectance-fluorescence-imaging-of-genetically-engineered-ryanodine-receptor-targeted-ca-2-probes-in-rat-ventricular-myocytes
#15
Sara Pahlavan, Marin Morad
The details of cardiac Ca(2+) signaling within the dyadic junction remain unclear because of limitations in rapid spatial imaging techniques, and availability of Ca(2+) probes localized to dyadic junctions. To critically monitor ryanodine receptors' (RyR2) Ca(2+) nano-domains, we combined the use of genetically engineered RyR2-targeted pericam probes, (FKBP-YCaMP, Kd=150nM, or FKBP-GCaMP6, Kd=240nM) with rapid total internal reflectance fluorescence (TIRF) microscopy (resolution, ∼80nm). The punctate z-line patterns of FKBP,(2)-targeted probes overlapped those of RyR2 antibodies and sharply contrasted to the images of probes targeted to sarcoplasmic reticulum (SERCA2a/PLB), or cytosolic Fluo-4 images...
September 2017: Cell Calcium
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#16
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805065/neurohormonal-modulation-for-treatment-of-cardiac-involvement-in-dystrophinopathies-and-mitochondrial-disease
#17
Alberto Aimo, Alberto Giannoni, Vincenzo Castiglione, Michelangelo Mancuso, Gabriele Siciliano, Massimo F Piepoli, Claudio Passino, Michele Emdin
Mutations in either the nuclear or the mitochondrial genome can lead to structural and functional changes within the skeletal muscles. These genetic skeletal myopathies are rare, although not infrequent when their cumulative incidence is considered. Dystrophinopathies (Duchenne and Becker muscular dystrophies) and mitochondrial disease are some of the most frequent clinical entities, and those developing heart failure more frequently. Neurohormonal antagonism represents the cornerstone of heart failure management, even though its role in the prevention and treatment of heart failure in patients with dystrophinopathies or mitochondrial disorders remains undefined...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28805011/bicuspid-and-unicuspid-aortic-valves-different-phenotypes-of-the-same-disease-insight-from-the-gentac-registry
#18
Joseph M Krepp, Mary J Roman, Richard B Devereux, Adrienne Bruce, Siddharth K Prakash, Shaine A Morris, Dianna M Milewicz, Kathryn W Holmes, William Ravekes, Ralph V Shohet, Reed E Pyeritz, Cheryl L Maslen, Barbara L Kroner, Kim A Eagle, Liliana Preiss, Federico M Asch
BACKGROUND: Unicuspid aortic valve (UAV) is a rare disorder, often difficult to distinguish from bicuspid aortic valve (BAV). BAV and UAV share valve pathology such as the presence of a raphe, leaflet fusion, aortic stenosis, aortic regurgitation, and/or ascending aortic dilatation, but a comprehensive echocardiographic comparison of patients with UAV and BAV has not been previously performed. METHODS: We investigated UAV and BAV patients at an early stage of disease included in GenTAC, a national registry of genetically related aortic aneurysms and associated cardiac conditions...
August 14, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28804588/first-reported-case-of-arrhythmogenic-right-ventricular-cardiomyopathy-in-oman
#19
Hatim Al Lawati, Humoud Al Dhuhli
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic disorder characterized by fatty degeneration of the right ventricular myocardium with variable involvement of the left ventricle. The condition is associated with exercise-mediated ventricular tachycardia and is one of the recognized causes of sudden cardiac death in the young and in athletes. Here, we report the first confirmed case of ARVC in Oman and present its electrocardiographic, echocardiographic features, and radiological findings on gated, contrast-enhanced cardiac computed tomography...
July 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28803248/a-functional-assay-for-sick-sinus-syndrome-genetic-variants
#20
Chuanchau J Jou, Cammon B Arrington, Spencer Barnett, Jiaxiang Shen, Scott Cho, Xiaoming Sheng, Patrick C McCullagh, Neil E Bowles, Chase M Pribble, Elizabeth V Saarel, Thomas A Pilcher, Susan P Etheridge, Martin Tristani-Firouzi
BACKGROUND/AIMS: Congenital Sick Sinus Syndrome (SSS) is a disorder associated with sudden cardiac death due to severe bradycardia and prolonged pauses. Mutations in HCN4, the gene encoding inward Na+/K+ current (If), have been described as a cause of congenital SSS. The objective of this study is to develop an SSS model in embryonic zebrafish, and use zebrafish as a moderate-throughput assay to functionally characterize HCN4 variants. METHODS: To determine the function of hcn4 in zebrafish, embryos were either bathed in the If -specific blocker (ZD-7288), or endogenous hcn4 expression was knocked down using splice-blocking morpholinos...
August 11, 2017: Cellular Physiology and Biochemistry
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