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Critical congenital heart disease

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https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#1
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27901294/performance-of-functional-fibrinogen-thromboelastography-in-children-undergoing-congenital-heart-surgery
#2
Nischal K Gautam, Chunyan Cai, Olga Pawelek, Muhammad B Rafique, Davide Cattano, Evan G Pivalizza
BACKGROUND: Functional Fibrinogen assay of the Thromboelastography (FFTEG), a whole blood viscoelastic hemostatic assay, has been used to estimate fibrinogen levels in adult patients undergoing major surgery but its performance in pediatric patients undergoing cardiac surgery requires evaluation. In this study, we evaluate the correlation between FFTEG parameters and standard laboratory tests for fibrinogen and platelet counts before and after cardiopulmonary bypass in children undergoing repair for congenital heart disease...
November 30, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27899284/defective-lymphatic-valve-development-and-chylothorax-in-mice-with-a-lymphatic-specific-deletion-of-connexin43
#3
Stephanie J Munger, Michael J Davis, Alexander M Simon
Lymphatic valves (LVs) are cusped luminal structures that permit the movement of lymph in only one direction and are therefore critical for proper lymphatic vessel function. Congenital valve aplasia or agenesis can, in some cases, be a direct cause of lymphatic disease. Knowledge about the molecular mechanisms operating during the development and maintenance of LVs may thus aid in the establishment of novel therapeutic approaches to treat lymphatic disorders. In this study, we examined the role of Connexin43 (Cx43), a gap junction protein expressed in lymphatic endothelial cells (LECs), during valve development...
November 27, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27849656/the-use-of-nesiritide-in-children-with-congenital-heart-disease
#4
Ronald A Bronicki, Michele Domico, Paul A Checchia, Curtis E Kennedy, Ayse Akcan-Arikan
OBJECTIVE: We evaluated the use of nesiritide in children with critical congenital heart disease, pulmonary congestion, and inadequate urine output despite conventional diuretic therapy. DESIGN: We conducted a retrospective analysis of 26 consecutive patients, comprising 37 infusions occurring during separate hospitalizations. Hemodynamic variables, urine output, and serum creatinine levels were monitored prior to and throughout the duration of therapy with nesiritide...
November 15, 2016: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/27834763/acquired-von-willebrand-syndrome-an-under-recognized-cause-of-major-bleeding-in-the-cardiac-intensive-care-unit
#5
Melissa B Jones, Karthik Ramakrishnan, Fahad A Alfares, Kendal M Endicott, Gary Oldenburg, John T Berger, Venkat Shankar, Dilip S Nath, Yaser A Diab
BACKGROUND: Acquired von Willebrand syndrome (AvWS) in the setting of congenital heart disease is an under-recognized cause of bleeding in the pediatric cardiac critical care unit. METHODS: Fourteen patients diagnosed with AvWS admitted to the cardiac intensive care unit at the Children's National Health System between December 2009 and September 2015 were identified with subsequent chart review and case analysis. RESULTS: Of the 14 patients included in this study, 4 patients were on ventricular-assist devices, 6 patients were on extracorporeal membrane oxygenation, and 4 were patients with congenital heart disease not receiving any mechanical circulatory support...
November 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27831548/a-novel-more-efficient-staged-approach-for-critical-congenital-heart-disease-screening
#6
J Mouledoux, S Guerra, J Ballweg, Y Li, W Walsh
OBJECTIVE: Screening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the American Academy of Pediatrics and the American Heart Association. The recommended screening requires two saturation readings. We sought to determine the incidence of undetected CCHD in Tennessee for the 2 years following implementation of an algorithm that assigned an immediate pass to a single lower extremity saturation of 97% or higher. STUDY DESIGN: State Genetic Screening records and reports of missed cases from the Tennessee Initiative for Perinatal Quality Care were used to determine if CCHD cases were missed by the new screening algorithm...
November 10, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27808268/identification-of-candidate-genes-for-congenital-heart-defects-on-proximal-chromosome-8p
#7
Tingting Li, Chunjie Liu, Yuejuan Xu, Qianqian Guo, Sun Chen, Kun Sun, Rang Xu
With the application of advanced molecular cytogenetic techniques, the number of patients identified as having abnormal chromosome 8p has increased progressively. Individuals with terminal 8p deletion have been extensively described in previous studies. The manifestations usually include cardiac anomalies, developmental delay/mental retardation, craniofacial abnormalities, and multiple other minor anomalies. However, some patients with proximal deletion also presented with similar phenotypic features. Here we describe a female child with an 18...
November 3, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27807201/molecular-pathophysiology-of-congenital-long-qt-syndrome
#8
REVIEW
M S Bohnen, G Peng, S H Robey, C Terrenoire, V Iyer, K J Sampson, R S Kass
Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome...
January 2017: Physiological Reviews
https://www.readbyqxmd.com/read/27801690/five-decades-of-pediatric-heart-transplantation-challenges-overcome-challenges-remaining
#9
Steven Zangwill
PURPOSE OF REVIEW: Pediatric heart transplants continue to be the therapy of choice for children with end stage heart failure. The interplay of limited donor supply, improvement in ventricular assist device (VAD) technology and utilization, and a focus on optimizing long-term outcomes make it critically important for practitioners to be aware of an evolving diagnostic and therapeutic arsenal. RECENT FINDINGS: Data suitable to define best practices for pediatric heart transplantation consist of an amalgam of small single center series, registry reviews and judicious inference from adult studies...
January 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/27774972/balloon-angioplasty-of-severe-aortic-coarctation-in-a-newborn-using-axillary-artery-access-the-first-experience-in-turkey
#10
Kemal Nişli, Serra Karaca, Ümrah Aydoğan
Axillary artery access for demanding interventions in newborns is rarely described, in spite of the many clear advantages. This access route in newborns with critical congenital heart disease is a real alternative to the more commonly used femoral or carotid artery routes. In brief, axillary access is an attractive alternative approach in newborns with complex heart diseases. It is advisable to stop an elective procedure if axillary access is not successful. Presently described is the use of axillary artery access for balloon angioplasty in a newborn with critical aortic coarctation...
October 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/27756857/genetic-analysis-of-rare-coding-mutations-in-celsr1-3-in-chinese-congenital-heart-and-neural-tube-defects
#11
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27749513/the-utility-of-brain-natriuretic-peptide-in-pediatric-cardiology-a-review
#12
Ana L Neves, Tiago Henriques-Coelho, Adelino Leite-Moreira, José C Areias
OBJECTIVE: The aim of this article is to evaluate the clinical utility of brain natriuretic peptide in pediatric patients, examining the diagnostic value, management, and prognostic relevance, by critical assessment of the literature. DATA SOURCES: In December 2015, a literature search was performed (PubMed access to MEDLINE citations; http://www.ncbi.nlm.nih.gov/PubMed/) and included these Medical Subject Headings and text terms for the key words: "brain natriuretic peptide," "amino-terminal pro-brain natriuretic peptide," "children," "neonate/s," "newborn/s," "infant/s," and "echocardiography...
November 2016: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/27745924/best-practice-critical-cardiac-care-in-the-neonatal-unit
#13
Michael L Rigby
Major congenital or acquired heart disease in neonates presents with cyanosis, hypoxia, acute circulatory failure or cardiogenic shock. Antenatal diagnosis is made in up to 50% but heart disease is unanticipated in the remainder. The presence of significant heart disease in premature infants is also frequently not suspected at first; in general, whatever the underling cardiac anomaly, the clinical condition is worse, deteriorates more quickly and carries a poorer prognosis in premature and low birth weight infants...
October 13, 2016: Early Human Development
https://www.readbyqxmd.com/read/27720432/multidetector-computed-tomographic-angiography-imaging-of-congenital-pulmonary-venous-anomalies-a-pictorial-review
#14
Aysel Türkvatan, Alper Güzeltaş, Hasan Tahsin Tola, Yakup Ergül
Congenital pulmonary venous anomalies are not uncommon that can occur either in isolation or in association with different forms of congenital heart disease. Clinical presentation of these anomalies may vary from the relatively benign single anomalous partial pulmonary venous return to life-threatening critical obstructed total anomalous pulmonary venous return. Accurate delineation of these anomalies and accompanied cardiovascular anomalies are crucial to guide decision making in these patients. Low-dose high-pitch dual-source 256-detector multidetector computed tomographic angiography is a fast and reliable imaging modality allowing comprehensive noninvasive anatomic imaging in neonates and children with congenital pulmonary venous anomalies with lower radiation doses and should be preferred for these patients after transthoracic echocardiography...
October 6, 2016: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/27716711/critical-decision-of-operability-in-congenital-heart-disease-patient-with-severe-pulmonary-hypertension
#15
Raja Joshi, Rajat Kalra, Neeraj Kumar, Neeraj Aggarwal, Reena K Joshi, Mridul Aggarwal, Rakesh Pandey
Repair of congenital heart disease in the presence of high pulmonary pressure has always been a contentious issue. Pulmonary vascular resistance (PVR) is considered important for establishing operability in these patients. However, PVR estimation is not always accurate and cannot solely be relied upon to make critical decision of operability. Clinical examination, chest X-ray, and echocardiography are also important indicators of pulmonary vascular disease. Knowledge of pits and falls of each investigation is important for appropriate management in these patients...
October 2016: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/27703660/dual-source-computed-tomography-evaluation-of-children-with-congenital-pulmonary-valve-stenosis
#16
Zhanguo Sun, Wenjian Xu, Shuran Huang, Yueqin Chen, Xiang Guo, Zhitao Shi
BACKGROUND: Despite dual-source computed tomography (DSCT) technology has been performed well on adults or infants with heart disease, specific knowledge about children with congenital pulmonary valve stenosis (PS) remained to be established. OBJECTIVES: This original research aimed to establish a professional approach of DSCT performing technology on children and to assess the image quality performed by DSCT to establish a diagnostic evaluation for children with PS...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27688672/predictors-of-cardio-pulmonary-resuscitation-outcome-in-postoperative-cardiac-children
#17
Bana Agha Nasser, Julinar Idris, Abdu Rahman Mesned, Tageldein Mohamad, Mohamed S Kabbani, Ali Alakfash
BACKGROUND: Outcomes of cardiopulmonary resuscitation (CPR) in children with congenital heart disease have improved and many children have survived after an in-hospital cardiac arrest. AIM: The purpose of this study is to determine predictors of poor outcome after CPR in critical children undergoing cardiac surgery. METHODS: We conducted a retrospective chart review and data analysis of all CPR records and charts of all postoperative cardiac children who had a cardiac arrest and required resuscitation from 2011 until 2015...
October 2016: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/27684424/photoplethysmographic-waveform-characteristics-of-newborns-with-coarctation-of-the-aorta
#18
L Palmeri, G Gradwohl, M Nitzan, E Hoffman, Y Adar, Y Shapir, R Koppel
OBJECTIVE: Fetal echocardiography, physical examination and pulse oximetry detect only half of coarctation of aorta (CoA) cases. We aimed to quantify delayed arrival and diminished amplitude of lower extremity photoplethysmographic (PPG) pulses relative to the right hand in affected patients. STUDY DESIGN: We studied 8 CoA infants and 32 healthy controls. The pulse arrival time difference between foot and hand (f-hTD) and pulse amplitude ratio (F/H) were measured on PPG signal waveforms by digitally-determining maxima and minima of systolic decrease of light transmission...
September 29, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27628296/feasibility-and-utility-of-portable-ultrasound-during-retrieval-of-sick-term-and-late-preterm-infants
#19
Kathryn Browning Carmo, Tracey Lutz, Andrew Berry, Martin Kluckow, Nick Evans
AIM: To determine the role of clinician performed ultrasound (CPU) during the retrieval and transport of critically ill term and near term newborns. METHODS: A neonatologist with portable ultrasound accompanied a sample of newborn retrievals to perform cardiac and cerebral ultrasound before and after transportation. RESULTS: A total of fifty-five babies were studied. Median birthweight: 3350 g (2220-5030 g). CPU led to a change in the planned receiving hospital in ten babies...
December 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27605484/utility-of-genetic-evaluation-in-infants-with-congenital-heart-defects-admitted-to-the-cardiac-intensive-care-unit
#20
Rebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, Stacy Woyciechowski, Lisa D'Alessandro, Elaine H Zackai, Matthew A Deardorff, Elizabeth Goldmuntz
Congenital heart defects (CHDs) are heterogeneous and present with a spectrum of severity, with roughly 25% of patients requiring intervention before age 1. The etiology of disease is unknown in many individuals; however, there is a rapidly expanding understanding of genetic risk factors that may contribute to pathogenesis. Through this work, we sought to evaluate the diagnostic yield of a clinical genetics evaluation and associated genetic testing among infants with critical CHDs. Furthermore, we aimed to both determine the utility of microarray and establish a strong baseline that can be used in future studies of the impact of exome sequencing in this population...
September 8, 2016: American Journal of Medical Genetics. Part A
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