keyword
MENU ▼
Read by QxMD icon Read
search

"Congenital heart"

keyword
https://www.readbyqxmd.com/read/28346832/tcf21-rs12190287-polymorphisms-are-associated-with-ventricular-septal-defects-in-a-chinese-population
#1
Liping Yang, Xiaobo Gao, Haiyan Luo, Qiuyu Huang, Dongmei Su, Xinyu Tan, Cailing Lu
AIMS: TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear. METHODS: A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects...
March 27, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#2
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28344686/comparison-of-image-quality-diagnostic-accuracy-and-radiation-dose-between-flash-model-and-retrospective-ecg-triggered-protocols-in-dual-source-computed-tomography-dsct-in-congenital-heart-diseases
#3
Rong Wang, Xiang-Jiu Xu, Gang Huang, Xing Zhou, Wen-Wen Zhang, Ya-Qiong Ma, Xiao-Na Zuo
BACKGROUND: Dual source computed tomography (DSCT) plays an important role in the diagnosis of congenital heart diseases (CHD). However, the issue of radiation-related side effects constitutes a wide public concern. The aim of the study was to explore the differences in diagnostic accuracy, radiation dose and image quality between a prospectively ECG - triggered high - pitch spiral acquisition (flash model) and a retrospective ECG-gated protocol of DSCT used for the detection of CHD. MATERIAL/METHODS: The study included 58 patients with CHD who underwent a DSCT examination, including two groups of 29 patients in each protocol...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#4
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344611/percutaneous-pulmonary-valve-implantation-state-of-the-art-and-polish-experience
#5
REVIEW
Elżbieta K Biernacka, Witold Rużyłło, Marcin Demkow
Percutaneous pulmonary valve implantation (PPVI) is a relatively new method of treating patients with right ventricular outflow tract (RVOT) dysfunction after surgical repair of congenital heart disease. Since its introduction in 2000 by Bonhoeffer, more than ten thousand PPVI procedures have been performed worldwide. Indications for PPVI have been adapted from those accepted for surgical intervention. Two types of valves are being used: Melody Medtronic available in diameters 16 mm and 18 mm and the family of Edwards SAPIEN valves 23, 26 and 29...
2017: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/28343948/left-ventricular-non-compaction-a-cardiomyopathy-with-acceptable-prognosis-in-children
#6
Tao Tian, Yankun Yang, Lanlan Zhou, Fang Luo, Yuehua Li, Peng Fan, Xueqi Dong, Yaxin Liu, Jingang Cui, Xianliang Zhou
BACKGROUND: Data on children with left ventricular non-compaction (LVNC) is sparse. The purpose of this study was to evaluate its clinical profiles in a population of Chinese children. METHODS: From January 2010 to March 2016, consecutive Chinese children (aged <18 years) with LVNC diagnosed by cardiovascular magnetic resonance (CMR) were prospectively recruited at Fuwai Hospital. RESULTS: A total of 41 Chinese children (male: 28%; mean age: 14±4years) were included in this study...
March 1, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#7
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343600/comparison-of-late-mortality-among-twins-versus-singletons-with-congenital-heart-defects
#8
Anne Maria Herskind, Lisbeth Aagaard Larsen, Dorthe Almind Pedersen, Kaare Christensen
In 2014, in the United States, nearly 7% of newborns were twins. Congenital heart defects (CHDs) are more frequent in both monozygotic and dizygotic twins than in singletons. Still, the longer-term prognosis for CHD twins is unknown. Here we assess the mortality pattern for CHD twins up to age 36 years and compare it with that for non-CHD twins, non-CHD co-twins, and CHD singletons. We identified all twins and a 5% random sample of all singletons born in Denmark from 1977 to 2009 by linking Danish national population and health registers...
March 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28342658/educational-needs-of-adolescents-with-congenital-heart-disease-impact-of-a-transition-intervention-programme
#9
Magalie Ladouceur, Johanna Calderon, Maladon Traore, Radhia Cheurfi, Christine Pagnon, Diala Khraiche, Fanny Bajolle, Damien Bonnet
BACKGROUND: Adolescents and young adults with congenital heart disease (CHD) have complex health needs and require lifelong follow-up. Interventions to facilitate the paediatric-to-adult healthcare transition are recommended, but outcomes remain largely under-investigated. AIMS: To identify the educational needs and the impact of a transition intervention on knowledge and self-management skills in adolescents and young adults with CHD. METHODS: From September 2014 to May 2015, 115 adolescents and young adults with CHD (mean age 17±2 years; 47 girls) were consecutively enrolled...
March 22, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28341902/red-flags-for-maltese-adults-with-congenital-heart-disease-poorer-dental-care-and-less-sports-participation-compared-to-other-european-patients-an-approach-is-substudy
#10
Maryanne Caruana, Silke Apers, Adrienne H Kovacs, Koen Luyckx, Corina Thomet, Werner Budts, Maayke Sluman, Katrine Eriksen, Mikael Dellborg, Malin Berghammer, Bengt Johansson, Alexandra Soufi, Edward Callus, Philip Moons, Victor Grech
Studies in recent years have explored lifestyle habits and health-risk behaviours in adult congenital heart disease (ACHD) patients when compared to controls. The aim of this study was to investigate differences in lifestyle habits between Maltese and other European ACHD patients. Data on alcohol consumption, cigarette smoking, substance misuse, dental care and physical activity collected in 2013-2015 during "Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study" (APPROACH-IS) were analysed...
March 24, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28340978/adult-congenital-heart-disease-nurse-coordination-essential-skills-and-role-in-optimizing-team-based-care-a-position-statement-from-the-international-society-for-adult-congenital-heart-disease-isachd
#11
Christina Sillman, Joanne Morin, Corina Thomet, Deena Barber, Yoshiko Mizuno, Hsiao-Ling Yang, Theresa Malpas, Serena Francesca Flocco, Clare Finlay, Chi-Wen Chen, Yvonne Balon, Susan M Fernandes
BACKGROUND: Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with congenital heart disease (CHD) worldwide. Among ISACHD's objectives is to "promote a holistic team-based approach to the care of the adult with CHD that is comprehensive, patient-centered, and interdisciplinary" (http://www.isachd.org). This emphasis on team-based care reflects the fact that adults with CHD constitute a heterogeneous population with a wide spectrum of disease complexity, frequent association with other organ involvement, and varied co-morbidities and psychosocial issues...
February 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28337699/lung-ultrasound-is-comparable-with-chest-roentgenogram-for-diagnosis-of-community-acquired-pneumonia-in-hospitalised-children
#12
Krishna Kumar Yadav, Shally Awasthi, Anit Parihar
OBJECTIVE: To evaluate the accuracy of lung ultrasound (LUS) in comparison to chest roentgenogram (CXR) in hospitalised children with community-acquired pneumonia (CAP). METHODS: This study was a hospital based prospective observational study, conducted between January 2014 and December 2014. Hospitalised children aged 2 to 59 mo with community-acquired pneumonia were included in the study. The informed written consent was taken from parents (or legal guardian) before recruitment...
March 24, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28337558/improving-on-the-diagnostic-characteristics-of-echocardiography-for-pulmonary-hypertension
#13
Kathleen Broderick-Forsgren, Clemontina A Davenport, Joseph A Sivak, Charles William Hargett, Michael C Foster, Andrew Monteagudo, Alicia Armour, Sudarshan Rajagopal, Kristine Arges, Eric J Velazquez, Zainab Samad
This retrospective study evaluated the diagnostic characteristics of a combination of echocardiographic parameters for pulmonary hypertension (PH). Right ventricular systolic pressure (RVSP) estimation by echocardiography (echo) is used to screen for PH. However, the sensitivity of this method is suboptimal. We hypothesized that RVSP estimation in conjunction with other echo parameters would improve the value of echo for PH. The Duke Echo database was queried for adult patients with known or suspected PH who had undergone both echo and right heart catheterization (RHC) within a 24 h period between 1/1/2008 and 12/31/2013...
March 24, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28337429/investigating-cardiac-motion-patterns-using-synthetic-high-resolution-3d-cardiovascular-magnetic-resonance-images-and-statistical-shape-analysis
#14
Benedetta Biffi, Jan L Bruse, Maria A Zuluaga, Hopewell N Ntsinjana, Andrew M Taylor, Silvia Schievano
Diagnosis of ventricular dysfunction in congenital heart disease is more and more based on medical imaging, which allows investigation of abnormal cardiac morphology and correlated abnormal function. Although analysis of 2D images represents the clinical standard, novel tools performing automatic processing of 3D images are becoming available, providing more detailed and comprehensive information than simple 2D morphometry. Among these, statistical shape analysis (SSA) allows a consistent and quantitative description of a population of complex shapes, as a way to detect novel biomarkers, ultimately improving diagnosis and pathology understanding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#15
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
March 21, 2017: Gene
https://www.readbyqxmd.com/read/28336264/genomic-imbalances-in-syndromic-congenital-heart-disease
#16
Miriam C Molck, Milena Simioni, Társis P Vieira, Ilária C Sgardioli, Fabíola P Monteiro, Josiane Souza, Agnes C Fett-Conte, Têmis M Félix, Isabella L Monlléo, Vera Lúcia Gil-da-Silva-Lopes
OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases...
March 20, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#17
Meagan G Grant, Victoria L Patterson, Daniel T Grimes, Rebecca D Burdine
Cardiac development is a dynamic process regulated by spatial and temporal cues that are integrated to effect molecular, cellular, and tissue-level events that form the adult heart. Disruption of these highly orchestrated events can be devastating for cardiac form and function. Aberrations in heart development result in congenital heart defects (CHDs), which affect 1 in 100 infants in the United States each year. Zebrafish have proven informative as a model organism to understand both heart development and the mechanisms associated with CHDs due to the similarities in heart morphogenesis among vertebrates, as well as their genetic tractability and amenability to live imaging...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28335833/association-between-cardiovascular-risk%C3%A2-factors-and-aortic-stenosis-the-canheart-aortic-stenosis-study
#18
Andrew T Yan, Maria Koh, Kelvin K Chan, Helen Guo, David A Alter, Peter C Austin, Jack V Tu, Harindra C Wijeysundera, Dennis T Ko
BACKGROUND: Few longitudinal studies have delineated the association between traditional cardiovascular risk factors and development of aortic stenosis (AS). OBJECTIVES: The authors examined the association between traditional cardiovascular risk factors and incident severe AS in a large, unselected elderly population. METHODS: This observational cohort study used multiple linked health care population-based databases of individuals older than 65 years on April 1, 2002, without prior valvular disease, coronary artery disease, heart failure, cardiac arrhythmia, cerebrovascular disease, congenital heart disease, or admissions with cardiac symptoms...
March 28, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28331377/management-of-systemic-lupus-erythematosus-during-pregnancy-challenges-and-solutions
#19
REVIEW
Caroline L Knight, Catherine Nelson-Piercy
Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease predominantly affecting women, particularly those of childbearing age. SLE provides challenges in the prepregnancy, antenatal, intrapartum, and postpartum periods for these women, and for the medical, obstetric, and midwifery teams who provide their care. As with many medical conditions in pregnancy, the best maternal and fetal-neonatal outcomes are obtained with a planned pregnancy and a cohesive multidisciplinary approach. Effective prepregnancy risk assessment and counseling includes exploration of factors for poor pregnancy outcome, discussion of risks, and appropriate planning for pregnancy, with consideration of discussion of relative contraindications to pregnancy...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#20
P F Zhu, Y Zhang, J Ban, T T Li, X M Shi
Objective: To summarize the progress in the research of the association between air pollution and adverse birth outcomes in China. Methods: A literature retrieval was conducted by using the databases of CNKI, Wanfang, Pubmed, Science Direct, and Web of Science to select relevant research papers published before 30(th), June 2016 in China according to inclusion criteria. Finally, 27 papers were included in analysis. Results: Exposure to particulate matter (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), total suspended particles (TSP) during pregnancy might increase risk for low birth weight; exposure to PM(10), SO(2), NO(2) during pregnancy might increase risk for premature birth; and exposure to SO(2), NO(2), ozone (O(3)), and PM(10) during pregnancy might increase risk for congenital heart diseases and other birth defects...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
keyword
keyword
101570
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"