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https://www.readbyqxmd.com/read/29145300/cost-effectiveness-analysis-of-neonatal-screening-of-critical-congenital-heart-defects-in-china
#1
Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori
BACKGROUND: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the cost-effectiveness of CCHD screening in China. METHODS AND FINDINGS: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as an adjunct to clinical assessment...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137093/an-incidental-encounter-of-a-rare-high-take-off-right-coronary-artery-a-case-report
#2
Xicheng Deng, Peng Huang, Wenjuan Chen, Xiaohui Yang, Qianjun Liu, Yunbin Xiao, Cheng He
RATIONALE: High take-off of the coronary arteries is a rare cardiac anatomic anomaly, which may occur independently or with other congenital heart defects. In the clinical setting, it is noteworthy as a cause of sudden cardiac death. Further, it is vital to identify such anomalies to avoid intraoperative catastrophes in surgeries for congenital heart defects. PATIENT CONCERNS: A II/6 systolic heart murmur on physical examination was incidentally found in a 9-year-old boy; he was confirmed to have a secundum-type atrial septal defect on echocardiography...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#3
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29128512/the-role-of-%C3%AE-ii-spectrin-in-cardiac-health-and-disease
#4
REVIEW
Mohamed H Derbala, Aaron S Guo, Peter J Mohler, Sakima A Smith
Spectrins are large, flexible proteins comprised of α-β dimers that are connected head-to-head to form the canonical heterotetrameric spectrin structure. Spectrins were initially believed to be exclusively found in human erythrocytic membrane and are highly conserved among different species. βII spectrin, the most common isoform of non-erythrocytic spectrin, is found in all nucleated cells and forms larger macromolecular complexes with ankyrins and actins. Not only is βII spectrin a central cytoskeletal scaffolding protein involved in preserving cell structure but it has also emerged as a critical protein required for distinct physiologic functions such as posttranslational localization of crucial membrane proteins and signal transduction...
November 8, 2017: Life Sciences
https://www.readbyqxmd.com/read/29119450/surgical-treatment-for-adult-congenital-heart-disease-consideration-for-indications-and-procedures
#5
REVIEW
Kozo Matsuo, Masashi Kabasawa, Soichi Asano, Shigeru Tateno, Yasutaka Kawasoe, Yoshitomo Okajima, Naoki Hayashida, Hirokazu Murayama
The number of the adult patients with congenital heart diseases (ACHD) continues to grow owing to improvement of surgical results and medical management. Corrective surgery for complex CHD does not always mean complete cure. It is not rare that the patients will visit the cardiology institutes because of secondary lesions due to residua or sequela in adults. Some patients with CHD remain unrepairable with different degree of heart failure and pulmonary arterial hypertension. Association of arrhythmias is common in ACHD patients and sometimes critical...
November 8, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29117038/development-and-validation-of-extracorporeal-membrane-oxygenation-mortality-risk-models-for-congenital-diaphragmatic-hernia
#6
Yigit S Guner, Danh V Nguyen, Lishi Zhang, Yanjun Chen, Matthew T Harting, Peter Rycus, Ryan Barbaro, Matteo Di Nardo, Thomas V Brogan, John P Cleary, Peter T Yu
The purpose of our study was to develop and validate extracorporeal membrane oxygenation (ECMO)-specific mortality risk models for congenital diaphragmatic hernia (CDH). We utilized the data from the Extracorporeal Life Support Organization Registry (2000-2015). Prediction models were developed using multivariable logistic regression. We identified 4,374 neonates with CDH with an overall mortality of 52%. Predictive discrimination (C statistic) for pre-ECMO mortality model was C = 0.65 (95% confidence interval, 0...
November 7, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/29101065/targeted-sequencing-identifies-novel-gata6-variants-in-a-large-cohort-of-patients-with-conotruncal-heart-defects
#7
Erge Zhang, Nanchao Hong, Sun Chen, Qihua Fu, Fen Li, Yu Yu, Kun Sun
Studies have highlighted the critical role of GATA6 in conotruncal heart defects (CTDs). Nevertheless, relationship between GATA6 variants and different CTDs remains largely unknown. Here GATA6 gene was screened in 542 patients with CTDs using targeted sequencing. Variant frequency was 2.0% (11/542). Three novel variants: c.86C>A (p.A29E), c.296T>A (p.V99D) and c.1254delC (p.S418fs) were identified in patients with transposition of the great arteries, double outlet right ventricle and persistent truncus arteriosus, respectively, but in none of the 400 controls...
October 31, 2017: Gene
https://www.readbyqxmd.com/read/29090255/anesthetic-considerations-for-a-pediatric-patient-with-wolf-hirschhorn-syndrome-a-case-report
#8
Masanori Tsukamoto, Hitoshi Yamanaka, Takeshi Yokoyama
Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management...
September 2017: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/29090252/anesthetic-management-of-a-patient-with-branchio-oto-renal-syndrome
#9
Masanori Tsukamoto, Takeshi Yokoyama
Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management...
September 2017: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/29079565/essentiality-of-regulator-of-g-protein-signaling-6-and-oxidized-ca-2-calmodulin-dependent-protein-kinase-ii-in-notch-signaling-and%C3%A2-cardiovascular-development
#10
Bandana Chakravarti, Jianqi Yang, Katelin E Ahlers-Dannen, Zili Luo, Heather A Flaherty, David K Meyerholz, Mark E Anderson, Rory A Fisher
BACKGROUND: Congenital heart defects are the most common birth defects worldwide. Although defective Notch signaling is the major cause of mouse embryonic death from cardiovascular defects, how Notch signaling is regulated during embryonic vasculogenesis and heart development is poorly understood. METHODS AND RESULTS: Regulator of G protein signaling 6 (RGS6)(-/-)/Ca(2+)/calmodulin-dependent protein kinase II (CaMKII)(VV) double mutant mice were developed by crossing RGS6(-/-) mice with mice expressing an oxidation-resistant CaMKIIδ (CaMKII(VV)), and the resulting embryonic defects/lethality were investigated using E7...
October 27, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29057564/the-effect-of-fetal-hemodynamics-on-fetal-growth-in-single-ventricle-and-transposition-of-the-great-arteries
#11
Tarek Alsaied, Stephanie Tseng, Eileen King, Eunice Hahn, Allison Divanovic, Mounira Habli, James Cnota
INTRODUCTION: As birth weight is a critical predictor of neonatal congenital heart defect (CHD) outcomes, the common problem of poor fetal growth in this population is clinically important but not well understood. The impact of fetal hemodynamics on fetal growth and birth weight in CHD has not been assessed. Combined cardiac output (CCO) has been used to evaluate patients with structurally normal heart but rarely in CHD. Middle cerebral artery and umbilical artery pulsatility indices (PIs) have been used to evaluate the relative distribution of circulation in patients with CHD...
October 23, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29048407/pulse-oximetry-screening-for-critical-congenital-heart-diseases-at-two-different-hospital-settings-in-thailand
#12
P Nuntnarumit, P Thanomsingh, A Limrungsikul, S Wanitkun, T Sirisopikun, P Ausayapao
OBJECTIVE: To evaluate the predictive abilities of pulse oximetry screening (POS) for critical congenital heart disease (CRIT.CHD) at two different hospital settings in Thailand. STUDY DESIGN: The study was conducted in healthy newborns at Ramathibodi Hospital (RH), a university hospital and Maharat Nakhon Ratchasima Hospital (MH), a regional hospital. Positive POS was defined as oxygen saturation (SpO2) <95% or difference between pre- and postductal SpO2 >3%...
October 19, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29046480/epigenetic-mechanisms-underlying-maternal-diabetes-associated-risk-of-congenital-heart-disease
#13
Madhumita Basu, Jun-Yi Zhu, Stephanie LaHaye, Uddalak Majumdar, Kai Jiao, Zhe Han, Vidu Garg
Birth defects are the leading cause of infant mortality, and they are caused by a combination of genetic and environmental factors. Environmental risk factors may contribute to birth defects in genetically susceptible infants by altering critical molecular pathways during embryogenesis, but experimental evidence for gene-environment interactions is limited. Fetal hyperglycemia associated with maternal diabetes results in a 5-fold increased risk of congenital heart disease (CHD), but the molecular basis for this correlation is unknown...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29034164/aberrant-brain-functional-connectivity-in-newborns-with-congenital-heart-disease-before-cardiac-surgery
#14
Josepheen De Asis-Cruz, Mary T Donofrio, Gilbert Vezina, Catherine Limperopoulos
Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29032483/regulation-of-cardiac-voltage-gated-sodium-channel-by-kinases-roles-of-protein-kinases-a-and-c
#15
Ademuyiwa S Aromolaran, Mohamed Chahine, Mohamed Boutjdir
In the heart, voltage-gated sodium (Nav) channel (Nav1.5) is defined by its pore-forming α-subunit and its auxiliary β-subunits, both of which are important for its critical contribution to the initiation and maintenance of the cardiac action potential (AP) that underlie normal heart rhythm. The physiological relevance of Nav1.5 is further marked by the fact that inherited or congenital mutations in Nav1.5 channel gene SCN5A lead to altered functional expression (including expression, trafficking, and current density), and are generally manifested in the form of distinct cardiac arrhythmic events, epilepsy, neuropathic pain, migraine, and neuromuscular disorders...
October 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29027708/advancing-prenatal-detection-of-congenital-heart-disease-a-novel-screening-protocol-improves-early-diagnosis-of-complex-congenital-heart-disease
#16
Karen M Letourneau, David Horne, Reeni N Soni, Keith R McDonald, Fern C Karlicki, Randy R Fransoo
OBJECTIVES: Prenatal diagnosis of complex congenital heart disease (CHD) during routine obstetric ultrasound (US) examinations improves postnatal outcomes, but sensitivity is low (<40%). Our objective was to improve our prenatal detection of complex CHD with implementation of a specific screening protocol. METHODS: From January 2003 to December 2013, 506 consecutive confirmed cases of complex CHD in the province of Manitoba, Canada, were analyzed to compare the sensitivity and positive predictive value of prenatal US detection of complex CHD before and after the introduction of a novel prenatal screening protocol...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29018170/temperature-activated-ion-channels-in-neural-crest-cells-confer-maternal-fever-associated-birth-defects
#17
Mary R Hutson, Anna L Keyte, Miriam Hernández-Morales, Eric Gibbs, Zachary A Kupchinsky, Ioannis Argyridis, Kyle N Erwin, Kelly Pegram, Margaret Kneifel, Paul B Rosenberg, Pavle Matak, Luke Xie, Jörg Grandl, Erica E Davis, Nicholas Katsanis, Chunlei Liu, Eric J Benner
Birth defects of the heart and face are common, and most have no known genetic cause, suggesting a role for environmental factors. Maternal fever during the first trimester is an environmental risk factor linked to these defects. Neural crest cells are precursor populations essential to the development of both at-risk tissues. We report that two heat-activated transient receptor potential (TRP) ion channels, TRPV1 and TRPV4, were present in neural crest cells during critical windows of heart and face development...
October 10, 2017: Science Signaling
https://www.readbyqxmd.com/read/29016838/the-hand1-frameshift-a126fs-mutation-does-not-cause-hypoplastic-left-heart-syndrome-in-mice
#18
Beth A Firulli, Kevin P Toolan, Jade Harkin, Hannah Millar, Santiago Pineda, Anthony B Firulli
Aims: To test if a human Hand1 frame shift mutation identified in human samples is causative of hypoplastic left heart syndrome (HLHS). Methods and results: HLHS is a poorly understood single ventricle congenital heart defect that affects two to three infants in every 10 000 live births. The aetiologies of HLHS are largely unknown. The basic helix-loop-helix transcription factor HAND1 is required for normal heart development. Interrogation of HAND1 sequence from fixed HLHS tissues identified a somatic frame-shift mutation at Alanine 126 (NP_004812...
August 31, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28987397/duration-of-postoperative-mechanical-ventilation-as-a-quality-metric-for-pediatric-cardiac-surgical-programs
#19
Michael Gaies, David K Werho, Wenying Zhang, Janet E Donohue, Sarah Tabbutt, Nancy S Ghanayem, Mark A Scheurer, John M Costello, J William Gaynor, Sara K Pasquali, Justin B Dimick, Mousumi Banerjee, Steven M Schwartz
BACKGROUND: Few metrics exist to assess quality of care at pediatric cardiac surgical programs, limiting opportunities for benchmarking and quality improvement. Postoperative duration of mechanical ventilation (POMV) may be an important quality metric because of its association with complications and resource utilization. In this study we modelled case-mix-adjusted POMV duration and explored hospital performance across POMV metrics. METHODS: This study used the Pediatric Cardiac Critical Care Consortium clinical registry to analyze 4,739 hospitalizations from 15 hospitals (October 2013 to August 2015)...
October 4, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28976740/3d-printed-pericardium-hydrogels-to-promote-wound-healing-in-vascular-applications
#20
Laura G Bracaglia, Michael Messina, Shira Winston, Che-Ying Kuo, Max Lerman, John P Fisher
Vascular grafts that can support total replacement and maintenance by the body of the injured vessel would improve outcomes of major surgical reconstructions. Building scaffolds using components of the native vessel can encourage biological recognition by native cells as well as mimic mechanical characteristics of the native vessel. Evidence is emerging that incorporating predetermined building-blocks into a tissue engineering scaffold may oversimplify the environment and ignore critical structures and binding sites essential to development at the implant...
October 16, 2017: Biomacromolecules
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