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Cardiac genetic testing

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https://www.readbyqxmd.com/read/29156453/use-of-genetic-testing-after-abnormal-screening-ultrasound-a-descriptive-cohort-study
#1
Alessandra J Ainsworth, Michelle A Holman, Elisabeth Codsi, Myra Wick
BACKGROUND/AIMS: The study aimed to characterize the use of genetic testing after abnormal screening ultrasound. METHODS: We performed a retrospective review of patients undergoing genetic testing after abnormal ultrasound. Genetic evaluation consisted of noninvasive prenatal screening (NIPS) or amniocentesis. Classification of ultrasound findings, type of genetic testing, and results were collected. RESULTS: A total of 139 subjects underwent genetic evaluation after abnormal screening ultrasound...
November 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/29146733/effects-of-chronically-increased-vegf-a-on-the-aging-heart
#2
Alexander G Marneros
Whether approaches to chronically increase VEGF-A in the heart may have beneficial effects and prevent the development of heart failure, in part by improving cardiac perfusion, or whether this increase could have detrimental effects on cardiac performance in the aging heart, has not been tested yet. In this study, a genetic mouse model with a chronic increase in VEGF-A in the heart is shown to have increased cardiac angiogenesis and develop cardiac hypertrophy with enhanced basal cardiac performance with age progression...
November 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29141318/-ras-associated-autoimmune-leukoproliferative-disorder-a-report-of-2-cases-and-literature-review
#3
T Y He, C R Li, Y Xia, F F Liang, Y Luo, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with Ras-associated autoimmune leukoproliferative disorder(RALD). Method: Characteristics of clinical data and gene mutation of the first two cases in China with RALD were retrospectively analyzed. The related literature was searched by using search terms "NRAS" , "KRAS" or "RALD" . Result: Case1, a seven-year-seven-month old girl, was admitted due to "thrombocytopenia and splenomegaly for three years" . Palpation showed enlargement of submandibular lymph nodes and hepatosplenomegaly...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29132927/whole-exome-sequencing-identified-a-pathogenic-mutation-in-ryr2-in-a-chinese-family-with-unexplained-sudden-death
#4
Yubi Lin, Siqi He, Zili Liao, Ruiling Feng, Ruilin Liu, Yongzheng Peng, Nan Yu, Hang Qi, Jia Chen, Zifeng Huang, Heping Lei, Yang Liu, Fang Rao, Chunyu Deng, Yumei Xue, Guolin Zhang, Bin Zhang, Hua Yao, Shulin Wu
OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms...
October 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29128679/early-onset-epileptic-encephalopathy-with-de-novo-scn8a-mutation
#5
Yangyang Xiao, Jie Xiong, Ding'an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu
Early-onset epileptic encephalopathies (EOEEs) are clinically and genetically heterogeneous disorders characterized by intractable seizures and unremitting interictal paroxysmal epileptiform activity. Consequently, these syndromes impair neurodevelopment during the first year of life. Currently, the etiology of these disorders is largely unknown. In this study, Childhood-Onset Epilepsy Gene Panel Testing (containing 511 epilepsy-related genes) was performed in a parent-offspring trio. In this family, the son had refractory seizures, intellectual disability, and motor abnormalities, and he was diagnosed with EOEE...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29113787/nox4-genetic-inhibition-in-experimental-hypertension-and-metabolic-syndrome
#6
Ghina Bouabout, Estelle Ayme-Dietrich, Hugues Jacob, Marie-France Champy, Marie-Christine Birling, Guillaume Pavlovic, Lola Madeira, Lahcen El Fertak, Benoit Petit-Demoulière, Tania Sorg, Yann Herault, John Mudgett, Laurent Monassier
BACKGROUND: Metabolic syndrome is a combination of symptoms including obesity, dyslipidaemia, glucose intolerance and hypertension. Oxidative stress appears to be a pathophysiological factor that links these signs and encourages progression towards heart failure and diabetes. Nox4 is a hydrogen peroxide nicotinamide adenine dinucleotide phosphate (NADPH) oxidase isoform - found in various cardiovascular cells and tissues, but also in tissues such as the liver - which is involved in glucose and lipid homeostasis...
November 4, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/29111419/diagnosis-of-multiple-system-atrophy
#7
REVIEW
Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Horacio Kaufmann
Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias...
October 23, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29104234/dupuytren-s-and-ledderhose-diseases-in-a-family-with-lmna-related-cardiomyopathy-and-a-novel-variant-in-the-aste1-gene
#8
Michael V Zaragoza, Cecilia H H Nguyen, Halida P Widyastuti, Linda A McCarthy, Anna Grosberg
Dupuytren's disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop) with palmar/plantar fibromatosis and investigate the hypothesis that a second rare DNA variant increases the risk for fibrotic disease in LMNA mutation carriers...
November 1, 2017: Cells
https://www.readbyqxmd.com/read/29102761/a-rapid-scoring-tool-to-assess-mutation-probability-in-patients-with-inherited-cardiac-disorders
#9
Dominica Zentner, Tina Thompson, Jessica Taylor, Michael Bogwitz, Alison Trainer, Jitendra Vohra, Ingrid Winship, Paul A James
AIMS: To explore clinical features and relationship with positive mutation ascertainment in inherited heart diseases in order to develop a clinical tool to assist identification of individuals in whom to offer genetic testing. A clinical tool that increases pre test probability of mutation detection would have the benefits of improving patient counselling, prioritising cases for MPS and allowing equity in decision making. METHODS AND RESULTS: Consecutive MPS mutation detection testing cases were identified (September 2014 - December 2015, n = 126)...
November 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29099038/massively-parallel-sequencing-of-genes-implicated-in-heritable-cardiac-disorders-a-strategy-for-a-small-diagnostic-laboratory
#10
Ivone U S Leong, Alexander Stuckey, Daniele Belluoccio, Vicky Fan, Jonathan R Skinner, Debra O Prosser, Donald R Love
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion channelopathies). Genetic testing is vital as those suffering from cardiac ion channelopathies have structurally normal hearts, and those with cardiomyopathies may only show subtle abnormalities in the heart and these signs may not be detected during an autopsy...
October 10, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29097449/genetic-and-functional-profiling-of-cd16-dependent-natural-killer-activation-identifies-patients-at-higher-risk-of-cardiac-allograft-vasculopathy
#11
Pascale Paul, Christophe Picard, Emmanuelle Sampol, Luc Lyonnet, Julie Di Cristofaro, Louise Paul-Delvaux, Guillaume Lano, Corinne Nicolino Brunet, Eleonore Ravis, Frederic Collart, Francoise Dignat George, Bertrand Dussol, Florence Sabatier, Annick Mouly Bandini
Background -Cardiac transplantation is an effective therapy for end-stage heart failure. As cardiac allograft vasculopathy (CAV) is the major cause of late mortality after heart transplant (HT), there is a need to identify markers that reflect inflammatory or cytotoxic immune mechanisms contributing to its onset. Non-invasive and early stratification of patients at risk remains a challenge for adapting individualized therapy. The CD16 (Fc-gamma receptor 3A, FCGR3A) receptor was recently identified as a major determinant of antibody-mediated natural killer (NK) cell activation in HT biopsies; however, little is known about the role of CD16 in promoting allograft vasculopathy...
November 2, 2017: Circulation
https://www.readbyqxmd.com/read/29095976/lamin-a-c-cardiomyopathy-young-onset-high-penetrance-and-frequent-need-for-heart-transplantation
#12
Nina Eide Hasselberg, Trine Fink Haland, Jørg Saberniak, Pål Haugar Brekke, Knut Erik Berge, Trond Paul Leren, Thor Edvardsen, Kristina Hermann Haugaa
Aims: Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results: During 2003-15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography...
October 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29071820/application-of-multigene-panel-sequencing-in-patients-with-prolonged-rate-corrected-qt-interval-and-no-pathogenic-variants-detected-in-kcnq1-kcnh2-and-scn5a
#13
Soo Hyun Seo, So Yeon Kim, Sung Im Cho, Hyunwoong Park, Seungjun Lee, Jong Moon Choi, Man Jin Kim, Jee Soo Lee, Kyung Jin Ahn, Mi Kyoung Song, Eun Jung Bae, Sung Sup Park, Moon Woo Seong
Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%)...
January 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29064534/benefits-of-laboratory-personalized-antiplatelet-therapy-in-patients-undergoing-percutaneous-coronary-intervention-a-meta-analysis-of-randomized-controlled-trials
#14
Yong Zhang, Pei Zhang, Zhan Li, Juanjuan Du, Jiangrong Wang, Xiuqing Tian, Mei Gao, Yinglong Hou
BACKGROUND: The preventive effects of laboratory personalized antiplatelet therapy (PAPT) strategy including genetic detection and platelet function testing (PFT) on major adverse cardiac events (MACEs) and bleeding events in coronary artery disease (CAD) patients undergoing stenting has been extensively studied. Despite that, no clear conclusion can be drawn. In this study, a meta-analysis was performed to explore a more precise estimation of the benefits of laboratory PAPT. METHODS: Randomized controlled trials were identified by the use of search databases such as PubMed, Embase, and Cochrane Controlled Trials Register up to May 2017, and the estimates were pooled...
October 24, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/29064067/stem-cells-in-regenerative-cardiology
#15
Semih Arbatlı, Galip Servet Aslan, Fatih Kocabaş
The common prevalence of heart failure and limitations in its treatment are leading cause of attention and interest towards the induction of cardiac regeneration with novel approaches. Recent studies provide growing evidence regarding bona fide cardiac regeneration post genetic manipulations, administration of stimulatory factors and myocardial injuries in animal models and human studies. To this end, stem cells of different sources have been tested to treat heart failure for the development of cellular therapies...
October 25, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29062232/mitochondrial-multiorgan-disorder-syndrome-score-generated-from-definite-mitochondrial-disorders
#16
Josef Finsterer, Sinda Zarrouk-Mahjoub
OBJECTIVES: Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS score to assess the diagnostic probability for an MID. METHODS: This is a retrospective evaluation of clinical, biochemical, and genetic investigations of adult patients with definite MIDs...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29059589/high-frequency-burst-vagal-nerve-simulation-therapy-in-a-natural-primate-model-of-genetic-generalized-epilepsy
#17
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/29058180/studying-kcnq1-mutation-and-drug-response-in-type-1-long-qt-syndrome-using-patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes
#18
Heming Wei, Jianjun Wu, Zhenfeng Liu
Patient-specific human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs) are becoming a valuable model for studying inherited cardiac arrhythmias. Type 1 long-QT syndrome is associated with the genetic variants of KCNQ1 gene that encodes Kv7.1, the α-subunit of the voltage-gated potassium channel QKT subfamily member 1 that channels the slow component of the outwardly rectifying K(+) channel current in cardiac myocytes. Patient- or disease-specific hiPSC-CM model could facilitate the characterization of the genotype-phenotype relationships and testing of individualized drug responses...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29057633/early-onset-lmna-associated-muscular-dystrophy-with-later-involvement-of-contracture
#19
Younggun Lee, Jung Hwan Lee, Hyung Jun Park, Young Chul Choi
BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy...
October 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29056682/mapping-heart-development-in-flies-src42a-acts-non-autonomously-to-promote-heart-tube-formation-in-drosophila
#20
Jessica Vanderploeg, J Roger Jacobs
Congenital heart defects, clinically identified in both small and large animals, are multifactorial and complex. Although heritable factors are known to have a role in cardiovascular disease, the full genetic aetiology remains unclear. Model organism research has proven valuable in providing a deeper understanding of the essential factors in heart development. For example, mouse knock-out studies reveal a role for the Integrin adhesion receptor in cardiac tissue. Recent research in Drosophila melanogaster (the fruit fly), a powerful experimental model, has demonstrated that the link between the extracellular matrix and the cell, mediated by Integrins, is required for multiple aspects of cardiogenesis...
April 24, 2017: Veterinary Sciences
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