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Cardiac genetic testing

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https://www.readbyqxmd.com/read/28319562/translating-biomarkers-from-research-to-clinical-use-in-pediatric-neurocritical-care-focus-on-traumatic-brain-injury-and-cardiac-arrest
#1
Andrew J Prout, Michael S Wolf, Ericka L Fink
PURPOSE OF REVIEW: Traumatic brain injury (TBI) and cardiac arrest are important causes of morbidity and mortality in children. Improved diagnosis and outcome prognostication using validated biomarkers could allow clinicians to better tailor therapies for optimal efficacy. RECENT FINDINGS: Contemporary investigation has yielded plentiful biomarker candidates of central nervous system (CNS) injury, including macromolecules, genetic, inflammatory, oxidative, and metabolic biomarkers...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#2
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28315121/untangling-the-biology-of-genetic-cardiomyopathies-with-pluripotent-stem-cell-disease-models
#3
REVIEW
Jan W Buikema, Sean M Wu
PURPOSE OF REVIEW: Recently, the discovery of strategies to reprogram somatic cells into induced pluripotent stem (iPS) cells has led to a major paradigm change in developmental and stem cell biology. The application of iPS cells and their cardiac progeny has opened novel directions to study cardiomyopathies at a cellular and molecular level. This review discusses approaches currently undertaken to unravel known inherited cardiomyopathies in a dish. RECENT FINDINGS: With improved efficiency for mutation correction by genome editing, human iPS cells have now provided a platform to untangle the biology of cardiomyopathies...
April 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28302550/the-22q11-2-deletion-syndrome-in-congenital-heart-defects-prevalence-of-microdeletion-syndrome-in-cameroon
#4
Ambroise Wonkam, Ricardo Toko, David Chelo, Cedrik Tekendo-Ngongang, Samuel Kingue, Sophie Dahoun
BACKGROUND: The 22q11.2 deletion syndrome is amongst the most common microdeletion syndrome in humans. Its prevalence remains unknown in sub-Saharan Africa, and its clinical features are under-reported for people of African descent. OBJECTIVE: We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon. METHODS: A total of 70 of 100 cases of congenital cardiac malformation with echocardiographic evidence were examined prospectively and tested for the 22q11...
March 13, 2017: Global Heart
https://www.readbyqxmd.com/read/28295036/a-novel-recessive-ttn-founder-variant-is-a-common-cause-of-distal-myopathy-in-the-serbian-population
#5
Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28288545/chronic-overexpression-of-angiotensin-1-7-in-rats-reduces-cardiac-reactivity-to-acute-stress-and-dampens-anxious-behavior
#6
Danielle Moura Santos, Fernanda Ribeiro Marins, Marcelo Limborço-Filho, Marilene Luzia de Oliveira, Daniele Hamamoto, Carlos Henrique Xavier, Fabrício Araújo Moreira, Robson Augusto Souza Santos, Maria José Campagnole-Santos, Marco Antonio Peliky Fontes
Angiotensin II (Ang II) acts as a pro-stress hormone, while other evidence indicates that angiotensin-(1-7) [Ang-(1-7)] attenuates physiological responses to emotional stress. To further test this hypothesis, in groups of 5-6 rats we evaluated autonomic, cardiovascular and behavioral parameters in male Sprague-Dawley (SD) and transgenic TGR(A1-7)3292 (TG) rats chronically overexpressing Ang-(1-7). Compared to SD rats, TG rats showed reduced baseline heart rate (HR; SD 380 ± 16 versus TG 329 ± 9 beats per minute (bpm), mean ± standard error of mean, p < ...
March 13, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/28283005/-comparison-of-maldi-tof-and-16s-rrna-methods-in-identification-of-viridans-group-streptococci
#7
Serap Süzük Yıldız, Banu Kaşkatepe, Salih Altınok, Mustafa Çetin, Alper Karagöz, Sümeyra Savaş
Accurate identification of viridans group streptococci (VGS) frequently encountered as a causative agent of infective endocarditis is always a challenge for the clinical microbiology laboratory. Clinical microbiology laboratories generally use semi automatic/full automatic systems, molecular methods and also conventional methods for the identification of these bacteria. There are recent published studies that have used MALDI-TOF (Matrix Assisted Laser Ionization Mass Spectrometry-Time of Flight) systems in the identification of VGS...
January 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/28281243/mimicking-cardiac-fibrosis-in-a-dish-fibroblast-density-rather-than-collagen-density-weakens-cardiomyocyte-function
#8
Ariane C C van Spreeuwel, Noortje A M Bax, Bastiaan J van Nierop, Annemieke Aartsma-Rus, Marie-José T H Goumans, Carlijn V C Bouten
Cardiac fibrosis is one of the most devastating effects of cardiac disease. Current in vitro models of cardiac fibrosis do not sufficiently mimic the complex in vivo environment of the cardiomyocyte. We determined the local composition and mechanical properties of the myocardium in established mouse models of genetic and acquired fibrosis and tested the effect of myocardial composition on cardiomyocyte contractility in vitro by systematically manipulating the number of fibroblasts and collagen concentration in a platform of engineered cardiac microtissues...
March 9, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28279743/vectrocardiography-identifies-patients-with-electrocardiographically-concealed-long-qt-syndrome-eclqts
#9
Daniel Cortez, J Martijn Bos, Michael J Ackerman
BACKGROUND: Long QT syndrome (LQTS) and genotypic subtypes are associated with distinctive T wave patterns, arrhythmogenic triggers, and corrected QT interval (QTc) risk associations. Twenty percent of patients with LQTS have normal QTc values, electrographically concealed LQTS (ecLQTS). Vectorcardiography (VCG) has value for sudden cardiac death risk assessment. OBJECTIVE: To determine the utility of VCG to identify patients with ecLQTS. METHODS: We performed a retrospective review on patients with ecLQTS, defined as resting QTc values < 440 ms...
March 6, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28279425/current-concepts-of-cardiac-amyloidosis-diagnosis-clinical-management-and-the-need-for-collaboration
#10
REVIEW
Alexandra J Ritts, Robert F Cornell, Kris Swiger, Jai Singh, Stacey Goodman, Daniel J Lenihan
Cardiac amyloidosis is a complex and vexing clinical condition that requires a high degree of suspicion for the diagnosis with a substantial amount of discipline to discern the extent of disease and the best available therapy. There is a complex interplay between multiple organ systems, and the clinical presentation may involve a myriad of confusing clinical symptoms. The diagnosis of cardiac amyloidosis can be confirmed with a combination of physical findings, cardiac biomarkers, noninvasive testing, and, if necessary, myocardial biopsy...
April 2017: Heart Failure Clinics
https://www.readbyqxmd.com/read/28277782/relationship-between-c-reactive-protein-serum-concentration-and-the-1846-c-t-rs1205-polymorphism-in-patients-with-acute-coronary-syndrome-from-western-mexico
#11
Gabriela Lizet Reynoso-Villalpando, Jorge Ramón Padilla-Gutiérrez, Angélica Valdez-Haro, Fidel Casillas-Muñoz, José Francisco Muñoz-Valle, Edgar Castellanos-Nuñez, Juan Carlos Chávez-Herrera, Yeminia Valle
AIM: To determine the relationship among the 1846 C>T (rs1205) polymorphism, C-reactive protein (CRP) concentration, and interleukin 6 (IL-6) serum levels in patients with acute coronary syndrome (ACS) from Western Mexico. METHODS: Three hundred participants in the control group (CG) and 300 patients with ACS from Western Mexico were included in the study. Genotyping was performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
March 9, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28258609/prenatal-diagnosis-of-a-retroesophageal-left-brachiocephalic-vein-two-case-reports
#12
Yvonne Kwun Yue Cheng, Kwok Ming Law, Pui Kwan Chak, Ka Fai To, Yiu Man Chan, Tak Yeung Leung
A retroesophageal left brachiocephalic vein is an extremely rare anomaly and has only been reported in 6 postnatal cases. Two prenatally diagnosed cases are reported. On the 3-vessel view, the vein appears as an aberrant vessel transversely coursing behind the aorta and trachea, which subsequently drains into the superior vena cava, giving rise to a U-shaped configuration. On color Doppler sonography, the U sign is bicolored. This anomaly should prompt the sonographer to carefully assess for other congenital heart defects, suggest consideration for genetic testing, and alert the cardiologist because it could affect central line procedures and cardiac interventions after delivery...
March 4, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28249798/mesenchymal-stem-cells-derived-extracellular-vesicles-via-mir-210-improve-infarcted-cardiac-function-by-promotion-of-angiogenesis
#13
Na Wang, Caiyu Chen, Dezhong Yang, Qiao Liao, Hao Luo, Xinquan Wang, Faying Zhou, Xiaoli Yang, Jian Yang, Chunyu Zeng, Wei Eric Wang
Mesenchymal stem cells (MSCs) exert therapeutic effect on treating acute myocardial infarction. Recent evidence showed that paracrine function rather than direct differentiation predominately contributes to the beneficial effects of MSCs, but how the paracrine factors function are not fully elucidated. In the present study, we tested if extracellular vesicles (EVs) secreted by MSC promotes angiogenesis in infracted heart via microRNAs. Immunostaining of CD31 and matrigel plug assay were performed to detect angiogenesis in a mouse myocardial infarction (MI) model...
February 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28247301/il-6-rs1800795-polymorphism-is-associated-with-septic-shock-related-death-in-patients-who-underwent-major-surgery-a-preliminary-retrospective-study
#14
Maria Angeles Jiménez-Sousa, Luz Maria Medrano, Pilar Liu, Amanda Fernández-Rodríguez, Raquel Almansa, Esther Gomez-Sanchez, Alicia Ortega, María Heredia-Rodríguez, Estefanía Gómez-Pesquera, Eduardo Tamayo, Salvador Resino
BACKGROUND: Sepsis is a life-threatening organ dysfunction caused by a dysregulated host response to infection, being the primary cause of death from infection, especially if not recognized and treated promptly. The aim of this study was to analyze whether IL-6 rs1800795 polymorphism is associated with septic shock-related death in European white patients who underwent major surgery. METHODS: We performed a retrospective study on 202 septic shock patients who underwent major cardiac or abdominal surgery...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28244588/investigation-of-opg-rank-rankl-genes-as-a-genetic-marker-for-cardiac-abnormalities-in-thalassemia-major-patients
#15
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
OBJECTIVE: The aim of the study was to investigate the role of osteoprotegerin (OPG)/RANK/RANKL variants in left ventricular hypertrophy (LVH) and diastolic dysfunction in thalassemia major patients MATERIALS AND METHOD: One hundred and five beta-thalassemia patients who were older than 10 years of age were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping for OPG [rs2073617 (950 T>C), rs2073618 (1181G>C)], RANK [(rs1805034(+34694 C>T), rs12458117 (+34901 G>A) and rs75404003 (+35966insdelC)], and RANKL (rs2277438, rs9594782) variants was done using the PCR-RFLP method...
February 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28240702/utility-of-genetic-testing-in-elite-volleyball-players-with-aortic-root-dilation
#16
Nicole Herrick, Christopher Davis, Lisa Vargas, Hal Dietz, Paul Grossfeld
Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan Syndrome (MFS). Consequently, identification of these abnormalities can be lifesaving. PURPOSE: To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. METHODS: We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva...
February 25, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28240317/non-invasive-mri-biomarkers-for-the-early-assessment-of-iron-overload-in-a-humanized-mouse-model-of-%C3%AE-thalassemia
#17
Laurence H Jackson, Evangelia Vlachodimitropoulou, Panicos Shangaris, Thomas A Roberts, Thomas M Ryan, Adrienne E Campbell-Washburn, Anna L David, John B Porter, Mark F Lythgoe, Daniel J Stuckey
β-thalassemia (βT) is a genetic blood disorder causing profound and life threatening anemia. Current clinical management of βT is a lifelong dependence on regular blood transfusions, a consequence of which is systemic iron overload leading to acute heart failure. Recent developments in gene and chelation therapy give hope of better prognosis for patients, but successful translation to clinical practice is hindered by the lack of thorough preclinical testing using representative animal models and clinically relevant quantitative biomarkers...
February 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28223051/functional-status-and-quality-of-life-in-survivors-of-extracorporeal-membrane-oxygenation-after-the-norwood-operation
#18
Joshua M Friedland-Little, Karen Uzark, Sunkyung Yu, Ray Lowery, Ranjit Aiyagari, Jennifer C Hirsch-Romano
BACKGROUND: Infants who require extracorporeal membrane oxygenation (ECMO) support after a Norwood operation are at increased risk for early and late death compared with patients who do not require ECMO post-Norwood. Little is known about the effect that ECMO post-Norwood has on functional status and quality of life among long-term survivors. METHODS: We prospectively evaluated functional status and health-related quality of life in 12 surviving patients (cases) and 19 corresponding patients (controls) from a previous retrospective case-control assessment of long-term survival in patients requiring ECMO post-Norwood...
February 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28220464/perspectives-and-challenges-of-pluripotent-stem-cells-in-cardiac-arrhythmia-research
#19
REVIEW
Alexander Goedel, Ilaria My, Daniel Sinnecker, Alessandra Moretti
PURPOSE OF REVIEW: The promises of human-induced pluripotent stem cells (hiPSCs) for modeling arrhythmogenic disease, but also for drug discovery and toxicity tests, are straightforward and exciting. However, the full potential of this new technology has not been fully realized yet. The purpose of this review is to provide an overview of the state-of-the-art research in arrhythmogenic disease modeling and drug discovery and an outlook of what can be expected from the second decade of hiPSC-based arrhythmia research...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28216547/mid-term-follow-up-of-school-aged-children-with-borderline-long-qt-interval
#20
Aya Miyazaki, Heima Sakaguchi, Yu Matsumura, Yosuke Hayama, Kanae Noritake, Jun Negishi, Etsuko Tsuda, Yoshihiro Miyamoto, Takeshi Aiba, Wataru Shimizu, Kengo Kusano, Isao Shiraishi, Hideo Ohuchi
BACKGROUND: There are no definitive diagnostic criteria or follow-up strategies for long QT syndrome (LQTS) in children with a borderline long QT interval (b-LQT).Methods and Results:We retrospectively evaluated the clinical course, genetic testing results, corrected QT interval (QTc), and LQTS score of 59 school-aged children (5-18 years old) with a b-LQT (400≤QTc<500 ms). Syncope, but neither aborted cardiac arrest nor sudden cardiac death, occurred in 2 patients during the follow-up (6±3...
February 18, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
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