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Cardiac genetic testing

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https://www.readbyqxmd.com/read/29334679/the-il20-genetic-polymorphism-is-associated-with-altered-clinical-outcome-in-septic-shock
#1
Taka-Aki Nakada, Petch Wacharasint, James A Russell, John H Boyd, Emiri Nakada, Simone A Thair, Tadanaga Shimada, Keith R Walley
BACKGROUND: The IL10 family of genes includes crucial immune regulators. We tested the hypothesis that single nucleotide polymorphisms (SNPs) in IL10, IL19, IL20, and IL24 of the IL10 family gene cluster alter the clinical outcome of septic shock. METHODS: Patients with septic shock (n = 1,193) were genotyped for 13 tag SNPs of IL10, IL19, IL20, and IL24. IL20 gene expression was measured in genotyped lymphoblastoid cells in vitro. Cardiac surgical ICU patients (n = 981) were genotyped for IL20 rs2981573 A/G...
January 16, 2018: Journal of Innate Immunity
https://www.readbyqxmd.com/read/29334670/genetic-ablation-of-trpv1-exacerbates-pressure-overload-induced-cardiac-hypertrophy
#2
Beihua Zhong, Jack Rubinstein, Shuangtao Ma, Donna H Wang
Transient receptor potential vanilloid 1 (TRPV1) channels expressed in sensory nerves may regulate vascular tone and cardiovascular function via their anti-inflammatory effects by releasing neuropeptide calcitonin gene-related peptide (CGRP). Inflammation plays a role in the progression of cardiac hypertrophy and TRPV1 activation may be key to cardiac inflammatory processes. The aim of this study was to test the hypothesis that TRPV1 modulates inflammatory processes to protect the heart from pressure overload-induced hypertrophy and inflammatory responses...
January 12, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29331839/functional-characterization-of-a-novel-herg-variant-in-a-family-with-recurrent-sudden-infant-death-syndrome-retracting-a-genetic-diagnosis
#3
Valentine Sergeev, Frances Perry, Thomas M Roston, Shubhayan Sanatani, Glen F Tibbits, Thomas W Claydon
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2...
December 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29329164/a-systematic-review-of-risk-factors-associated-with-cognitive-impairment-after-pediatric-critical-illness
#4
Alicia G Kachmar, Sharon Y Irving, Cynthia A Connolly, Martha A Q Curley
OBJECTIVES: To identify risk factors associated with cognitive impairment as assessed by neuropsychologic tests in neurotypical children after critical illness. DATA SOURCES: For this systematic review, we searched the Cochrane Library, Scopus, PubMed, Ovid, Embase, and CINAHL databases from January 1960 to March 2017. STUDY SELECTION: Included were studies with subjects 3-18 years old at the time of post PICU follow-up evaluation and use of an objective standardized neuropsychologic test with at least one cognitive functioning dimension...
January 11, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29306591/the-frequency-and-risk-factors-for-ischemic-stroke-in-myotonic-dystrophy-type-1-patients
#5
Kosuke Yoshida, Yoko Aburakawa, Yasuhiro Suzuki, Kenji Kuroda, Takashi Kimura
INTRODUCTION: Patients with myotonic dystrophy type 1 have several cardiac abnormalities, especially myocardial conduction disorders. Few studies have investigated cerebral infarction. We investigated the frequency of both symptomatic and asymptomatic ischemic strokes in patients with myotonic dystrophy type 1. METHODS: Patients who were diagnosed with myotonic dystrophy type 1 using genetic testing or clinical examinations at Asahikawa Medical Center were included...
January 3, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29298659/cardiac-manifestations-of-prkag2-mutation
#6
Pooya Banankhah, Gregory A Fishbein, Anthony Dota, Reza Ardehali
BACKGROUND: The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities. CASE PRESENTATION: A 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation after an episode of Non-ST Elevation Myocardial Infarction (NSTEMI)...
January 3, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29297177/low-cpne3-expression-is-associated-with-risk-of-acute-myocardial-infarction-a-feasible-genetic-marker-of-acute-myocardial-infarction-in-patients-with-stable-coronary-artery-disease
#7
Buchuan Tan, Long Liu, Yushuang Yang, Qian Liu, Liping Yang, Fanbo Meng
BACKGROUND: Gene COPINE III may be related to a phosphoprotein with intrinsic kinase activity and belongs to an unconventional kinase family. The CPNE3 gene may be used as a biomarker for assessment of occurrence and prognosis of various tumors. METHODS: Peripheral blood was collected from 87 stable CAD patients and 91 AMI patients. Real-time quantitative PCR test and the western blot method were adopted to measure expression quantity of CPNE3 gene at the mRNA level and the protein level...
January 3, 2018: Cardiology Journal
https://www.readbyqxmd.com/read/29290336/genome-wide-study-of-atrial-fibrillation-identifies-seven-risk-loci-and-highlights-biological-pathways-and-regulatory-elements-involved-in-cardiac-development
#8
Jonas B Nielsen, Lars G Fritsche, Wei Zhou, Tanya M Teslovich, Oddgeir L Holmen, Stefan Gustafsson, Maiken E Gabrielsen, Ellen M Schmidt, Robin Beaumont, Brooke N Wolford, Maoxuan Lin, Chad M Brummett, Michael H Preuss, Lena Refsgaard, Erwin P Bottinger, Sarah E Graham, Ida Surakka, Yunhan Chu, Anne Heidi Skogholt, Håvard Dalen, Alan P Boyle, Hakan Oral, Todd J Herron, Jacob Kitzman, José Jalife, Jesper H Svendsen, Morten S Olesen, Inger Njølstad, Maja-Lisa Løchen, Aris Baras, Omri Gottesman, Anthony Marcketta, Colm O'Dushlaine, Marylyn D Ritchie, Tom Wilsgaard, Ruth J F Loos, Timothy M Frayling, Michael Boehnke, Erik Ingelsson, David J Carey, Frederick E Dewey, Hyun M Kang, Gonçalo R Abecasis, Kristian Hveem, Cristen J Willer
Atrial fibrillation (AF) is a common cardiac arrhythmia and a major risk factor for stroke, heart failure, and premature death. The pathogenesis of AF remains poorly understood, which contributes to the current lack of highly effective treatments. To understand the genetic variation and biology underlying AF, we undertook a genome-wide association study (GWAS) of 6,337 AF individuals and 61,607 AF-free individuals from Norway, including replication in an additional 30,679 AF individuals and 278,895 AF-free individuals...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#9
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29278896/long-term-pulmonary-function-in-duchenne-muscular-dystrophy-comparison-of-eteplirsen-treated-patients-to-natural-history
#10
T Bernard Kinane, Oscar H Mayer, Petra W Duda, Linda P Lowes, Stephanie L Moody, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29262473/-clinical-challenges-in-the-management-of-catecholaminergic-polymorphic-ventricular-tachycardia-in-children
#11
H Y Ge, X M Li, H Jiang, Y Zhang, H J Liu, X C Zheng, M T Li
Objective: Catecholaminergic polymorphic ventricular tachycardia (CPVT) accounts for up to 10%-15% sudden cardiac death (SCD) in the children and young population. This study aimed to assess the current situation and challenges in CPVT clinical diagnosis. Method: A retrospective review included 11 children (7 male patients) at the First Hospital of Tsinghua University clinically diagnosed with CPVT from June 2014 to July 2017. Each patient was evaluated with detailed history, physical examination, resting 12-lead electrocardiogram(ECG), 24-h Holter, exercise stress test, Doppler echocardiography and genetic test...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29258718/different-mri-defined-tuber-types-in-tuberous-sclerosis-complex-quantitative-evaluation-and-association-with-disease-manifestations
#12
Simonas Jesmanas, Kristina Norvainytė, Rymantė Gleiznienė, Renata Šimoliūnienė, Milda Endzinienė
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. AIMS: To quantitatively evaluate different MRI-defined tuber types and to explore their relationships with major disease manifestations in patients with tuberous sclerosis complex...
December 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/29250293/hypothetical-anatomy-of-brugada-phenomenon-long-qt-sine-long-qt-syndrome-implicating-morphologically-undefined-specific-brugada-s-myocells
#13
REVIEW
Petras Stirbys
The Brugada syndrome (BrS) is associated with increased risk of ventricular arrhythmias and sudden cardiac death. It generates genetically mediated arrhythmias posing a true pathophysiological challenge. In search of the similarities between BrS and long QT syndrome some novel insights are suggested. In patients with BrS the duration of QT interval is usually normal. Some investigators have found prolonged QT interval in the syndrome's natural course or the duration of QT segment have been extended by provocative tests unmasking BrS...
April 2017: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/29249054/transthyretin-familial-amyloid-polyneuropathy-an-update
#14
Violaine Plante-Bordeneuve
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN)...
December 16, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29248914/whole-genome-analysis-of-an-extensive-drug-resistant-acinetobacter-baumannii-st195-isolate-from-a-recipient-after-dcd-renal-transplantation-in-china
#15
Hong Jiang, Luxi Cao, Qixia Shen, Lihui Qu, Yan Jiang, Tingting Qu, Jian Zhang, Yingying Lu, Bingjue Li, Chaohong Zhu, Guangjun Liu, Rending Wang, Miao Chen, Yucheng Wang, Yanfei Wang, Shi Feng, Junwen Wang, Yunsong Yu, Jianyong Wu, Jianghua Chen
BACKGROUND/AIMS: Infection with Acinetobacter baumannii was emerging as one of the leading causes of mortality after donation after cardiac death transpalantion. METHODS: We reported a case of a recipient who underwent DCD renal transplantation and later got infected by A.baumannii. Etests were done to verify the susceptibility test results in clinic. Whole-genome analysis was applied to investigate the resistant mechanism at gene level. RESULTS: The pathogen was isolated from his draining liquid the day after the surgery, and susceptibility test reavealed that it was sensitive to tigecycline...
December 14, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29247119/applying-high-resolution-variant-classification-to-cardiac-arrhythmogenic-gene-testing-in-a-demographically-diverse-cohort-of-sudden-unexplained-deaths
#16
Ying Lin, Nori Williams, Dawei Wang, William Coetzee, Bo Zhou, Lucy S Eng, Sung Yon Um, Ruijun Bao, Orrin Devinsky, Thomas V McDonald, Barbara A Sampson, Yingying Tang
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demographically diverse sudden unexplained death cohort that underwent thorough investigation in the United States' largest medical examiner's office...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29243008/examining-the-psychosocial-impact-of-genetic-testing-for-cardiomyopathies
#17
Julia Wynn, David T Holland, Jimmy Duong, Priyanka Ahimaz, Wendy K Chung
Inherited cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), are the most common monogenic cause of cardiac disease and can rarely lead to sudden cardiac death (SCD). They are characterized by incomplete and age-dependent penetrance and are usually initially symptomatic in adulthood yet can present in childhood as well. Over 20 genes have been identified to cause HCM, and more than 40 genes are known to cause DCM. Genetic testing for these genes has been integrated into medical care; however, the psychological impact of genetic testing and the impact of the uncertainty that comes with receiving these results have not been well studied...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29238731/porcine-to-human-heart-transplantation-is-clinical-application-now-appropriate
#18
REVIEW
Christopher G A McGregor, Guerard W Byrne
Cardiac xenotransplantation (CXTx) is a promising solution to the chronic shortage of donor hearts. Recent advancements in immune suppression have greatly improved the survival of heterotopic CXTx, now extended beyond 2 years, and life-supporting kidney XTx. Advances in donor genetic modification (B4GALNT2 and CMAH mutations) with proven Gal-deficient donors expressing human complement regulatory protein(s) have also accelerated, reducing donor pig organ antigenicity. These advances can now be combined and tested in life-supporting orthotopic preclinical studies in nonhuman primates and immunologically appropriate models confirming their efficacy and safety for a clinical CXTx program...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/29237689/technical-advances-for-the-clinical-genomic-evaluation-of-sudden-cardiac-death-verification-of-next-generation-sequencing-panels-for-hereditary-cardiovascular-conditions-using-formalin-fixed-paraffin-embedded-tissues-and-dried-blood-spots
#19
Linnea M Baudhuin, Charles Leduc, Laura J Train, Rajeswari Avula, Michelle L Kluge, Katrina E Kotzer, Peter T Lin, Michael J Ackerman, Joseph J Maleszewski
BACKGROUND: Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously collected at autopsy, but DNA quality hampers its use with traditional sequencing methods. Targeted next-generation sequencing may offer the ability to circumvent such limitations, but a method has not been previously described. The primary aim of this study was to develop and evaluate the use of FFPET for heritable CV disorders via next-generation sequencing...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237675/gene-based-risk-stratification-for-cardiac-disorders-in-lmna-mutation-carriers
#20
Suguru Nishiuchi, Takeru Makiyama, Takeshi Aiba, Kenzaburo Nakajima, Sayako Hirose, Hirohiko Kohjitani, Yuta Yamamoto, Takeshi Harita, Mamoru Hayano, Yimin Wuriyanghai, Jiarong Chen, Kenichi Sasaki, Nobue Yagihara, Taisuke Ishikawa, Kenji Onoue, Nobuyuki Murakoshi, Ichiro Watanabe, Kimie Ohkubo, Hiroshi Watanabe, Seiko Ohno, Takahiro Doi, Satoshi Shizuta, Tohru Minamino, Yoshihiko Saito, Yasushi Oginosawa, Akihiko Nogami, Kazutaka Aonuma, Kengo Kusano, Naomasa Makita, Wataru Shimizu, Minoru Horie, Takeshi Kimura
BACKGROUND: Mutations in LMNA (lamin A/C), which encodes lamin A and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac conduction disturbance, atrial fibrillation, and malignant ventricular arrhythmias. Although the type of LMNA mutations have been reported to be associated with susceptibility to malignant ventricular arrhythmias, the gene-based risk stratification for cardiac complications remains unexplored. METHODS AND RESULTS: The multicenter cohort included 77 LMNA mutation carriers from 45 families; cardiac disorders were retrospectively analyzed...
December 2017: Circulation. Cardiovascular Genetics
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