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Congenital heart defect research

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https://www.readbyqxmd.com/read/28411047/immunodepression-after-cpb-cytokine-dynamics-and-clinics-after-pediatric-cardiac-surgery-a-prospective-trial
#1
Georgia Justus, Christoph Walker, Lisa-Maria Rosenthal, Felix Berger, Oliver Miera, Katharina Rose Luise Schmitt
BACKGROUND: Corrective surgery for congenital heart defects is known to trigger a severe immune reaction. There has been extensive research on the effects of inflammation after cardiopulmonary bypass (CPB). Interestingly, monocytes are observed to be non-responsive to stimulation with lipopolysaccharide (LPS) under these conditions, indicating a state of immunodepression, which lays the ground for second hit infections after cardiosurgery with CPB. OBJECTIVES: The aim of this prospective study was to analyze immunodepression after pediatric cardiopulmonary bypass and to differentiate the effects of monocytic anergy on postoperative outcome...
April 11, 2017: Cytokine
https://www.readbyqxmd.com/read/28402072/congenital-lung-agenesis-incidence-and-outcome-in-the-north-of-england
#2
Matthew Thomas, Nic Robertson, Nicola Miller, Judith Rankin, Michael McKean, Malcom Brodlie
BACKGROUND: Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. METHODS: The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management...
April 12, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398667/costs-mortality-and-hospital-usage-in-relation-to-prenatal-diagnosis-in-d-transposition-of-the-great-arteries
#3
Nelangi M Pinto, Richard Nelson, Lorenzo Botto, Michael D Puchalski, Sergey Krikov, Jaewhan Kim, Norman J Waitzman
BACKGROUND: The impact of prenatal diagnosis of d-transposition of the great arteries (dTGA) on health-care usage is largely unknown. We evaluated a population-based cohort to assess costs, mortality and inpatient encounters by whether dTGA was prenatally diagnosed or not. METHODS: The dTGA cases (born 1997-2011) identified at the Utah Birth Defect Network, which includes data on timing of diagnosis, were linked to statewide inpatient discharge data. We excluded preterm cases or cases with additional major heart defects...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398665/both-a-frameshift-and-a-missense-mutation-of-the-stra6-gene-observed-in-an-infant-with-the-matthew-wood-syndrome
#4
Samantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, Ewa Czichos, Jan Wilczynski, Dorota Nowakowska
BACKGROUND: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. CASE: A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398664/rare-copy-number-variants-in-patients-with-congenital-conotruncal-heart-defects
#5
Hongbo M Xie, Petra Werner, Dwight Stambolian, Joan E Bailey-Wilson, Hakon Hakonarson, Peter S White, Deanne M Taylor, Elizabeth Goldmuntz
BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. METHODS: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28393063/neuropsychological-and-psychiatric-outcomes-in-dextro-transposition-of-the-great-arteries-across-the-lifespan-a-state-of-the-art-review
#6
REVIEW
Leila Kasmi, Damien Bonnet, Michèle Montreuil, David Kalfa, Nikoletta Geronikola, David C Bellinger, Johanna Calderon
Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28392102/creatine-phosphate-administration-in-cell-energy-impairment-conditions-a-summary-of-past-and-present-research
#7
REVIEW
A V Gaddi, P Galuppo, J Yang
BACKGROUND: Creatine phosphate (CrP) plays a fundamental physiological role by providing chemical energy for cell viability and activity, especially in muscle tissue. Numerous pathological conditions, caused by acute or chronic ischaemic situations, are related to its deficiency. For these reasons, it has been used as a cardioprotective agent in heart surgery and medical cardiology for many years. OBJECTIVE: This article gives a brief overview of the main characteristics of exogenous CrP...
March 14, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28371265/oral-facial-digital-syndrome-type-1-in-males-congenital-heart-defects-are-included-in-its-phenotypic-spectrum
#8
Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne-Marie van der Kevie-Kersemaekers, Merel van Maarle
Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed...
April 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#9
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/28333672/case-report-pediatric-scar-management-after-open-heart-surgery
#10
Ha Phan, Beau Harger, Nick Estrada
Tetralogy of Fallot is a congenital disease caused by structural defects within the heart that can lead to cyanosis. The purpose of this case report is to discuss the use of PracaSil-Plus, a proprietary topical anhydrous silicone base containing pracaxi oil, in scar-management therapy, following open-heart surgery on a pediatric patient with tetralogy of Fallot. The Patient and Observer Scar Assessment Scale was the research instrument used to evaluate for efficacy of the scar therapy. Following 8 weeks of treatment with PracaSil-Plus, reduction in scores were observed for scar color, stiffness, thickness, and irregularity, with improvements of 87...
July 2016: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#11
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
https://www.readbyqxmd.com/read/28279500/how-often-is-congenital-heart-disease-recognized-as-a-significant-comorbidity-among-hospitalized-adults-with-congenital-heart-disease
#12
James M Robbins, Jennifer Onukwube, Anthony Goudie, R Thomas Collins
BACKGROUND: Despite frequent life-long hemodynamic and electrophysiologic abnormalities, adults with congenital heart defects (CHDs) are often lost to medical follow-up. Using a cohort of adults with CHD receiving hospital care in Arkansas, we sought to determine how often a CHD is recognized and coded during hospital admissions. METHODS: Data for this study come from the Agency for Healthcare Research and Quality's Arkansas State Inpatient Database (SID) for years 2004 to 2012...
May 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28243582/medically-related-post-traumatic-stress-in-children-and-adolescents-with-congenital-heart-defects
#13
REVIEW
Maya G Meentken, Ingrid M van Beynum, Jeroen S Legerstee, Willem A Helbing, Elisabeth M W J Utens
Children and adolescents with a congenital heart defect (ConHD) frequently undergo painful or frightening medical procedures and hospitalizations. They often need multiple invasive procedures at a very young age and require regular checkups during their entire life. From other pediatric populations, it is known that these kinds of experiences can result in acute stress reactions and even in post-traumatic stress disorder (PTSD) in the long-term. PTSD and also subthreshold PTSD can lead to serious (psychosocial) impairment...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28182589/bicuspid-aortic-valve-aortopathy-mechanistic-and-clinical-insights-from-recent-studies
#14
David G Guzzardi, Subodh Verma, Paul W M Fedak
PURPOSE OF REVIEW: This focused review summarizes key insights from the past 12 months of basic science and clinical research on bicuspid aortic valve (BAV)-associated aortopathy. RECENT FINDINGS: Recent studies in BAV-associated aortopathy support a heterogeneous spectrum of disease with distinct phenotypes. Basic science studies provide further support for the concept of regional differences in the severity of aortopathy within the aorta of BAV patients. Clinical studies compared outcomes of BAV patients after isolated aortic valve replacement and showed that those with primarily valvular insufficiency as compared with stenosis may be at greater risk for important aortic events over time...
March 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28178169/an-artificial-neural-network-prediction-model-of-congenital-heart-disease-based-on-risk-factors-a-hospital-based-case-control-study
#15
Huixia Li, Miyang Luo, Jianfei Zheng, Jiayou Luo, Rong Zeng, Na Feng, Qiyun Du, Junqun Fang
An artificial neural network (ANN) model was developed to predict the risks of congenital heart disease (CHD) in pregnant women.This hospital-based case-control study involved 119 CHD cases and 239 controls all recruited from birth defect surveillance hospitals in Hunan Province between July 2013 and June 2014. All subjects were interviewed face-to-face to fill in a questionnaire that covered 36 CHD-related variables. The 358 subjects were randomly divided into a training set and a testing set at the ratio of 85:15...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28151402/mental-health-among-parents-of-children-with-critical-congenital-heart-defects-a-systematic-review
#16
REVIEW
Sarah E Woolf-King, Alexandra Anger, Emily A Arnold, Sandra J Weiss, David Teitel
BACKGROUND: Parents of children with critical congenital heart defects (PCCHDs) may be at high risk for mental health morbidity; however, the literature is not well characterized. Given that compromised parental mental health can lead to long-term cognitive, health-related, and behavioral problems in children, a systematic review of this literature could provide informed recommendations for continued research and enhance the care of families of children living with critical congenital heart defects...
February 1, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28096041/advance-care-planning-in-adults-with-congenital-heart-disease-a-patient-priority
#17
Lisa X Deng, Lacey P Gleason, Abigail M Khan, David Drajpuch, Stephanie Fuller, Leah A Goldberg, Christopher E Mascio, Sara L Partington, Lynda Tobin, Yuli Y Kim, Adrienne H Kovacs
BACKGROUND: Adult congenital heart disease (ACHD) patients with moderate or great defect complexity are at risk for premature death. Although early engagement in advance care planning (ACP) is recommended, previous research suggests that it seldom occurs. METHODS: This study investigated ACHD patient preferences for ACP and factors that impact preferences. ACHD patients completed an ACP preferences questionnaire, the Hospital Anxiety and Depression Scale and a measure of attachment styles...
March 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28086762/prevalence-and-risk-factors-of-congenital-heart-defects-among-live-births-a-population-based-cross-sectional-survey-in-shaanxi-province-northwestern-china
#18
Leilei Pei, Yijun Kang, Yaling Zhao, Hong Yan
BACKGROUND: Nearly half of the population of Northwest China live in Shaanxi province, but population-based data on the epidemiologic characteristics of congenital heart defects (CHD) in this population is limited. The study aimed to investigate the prevalence and epidemiologic characteristics of the CHD among infants born between 2010 and 2013 in Shaanxi province. METHODS: Infants born between 2010 and 2013 in Shaanxi province were surveyed using a stratified multi-stage sampling method...
January 13, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28060152/an-elevated-low-cardiac-output-syndrome-score-is-associated-with-morbidity-in-infants-after-congenital-heart-surgery
#19
Kalia P Ulate, Ofer Yanay, Howard Jeffries, Harris Baden, Jane L Di Gennaro, Jerry Zimmerman
OBJECTIVES: To evaluate an empirically derived Low Cardiac Output Syndrome Score as a clinical assessment tool for the presence and severity of Low Cardiac Output Syndrome and to examine its association with clinical outcomes in infants who underwent surgical repair or palliation of congenital heart defects. DESIGN: Prospective observational cohort study. SETTING: Cardiac ICU at Seattle Children's Hospital. PATIENTS: Infants undergoing surgical repair or palliation of congenital heart defects...
January 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28033081/clinical-databases-and-registries-in-congenital-and-pediatric-cardiac-surgery-cardiology-critical-care-and-anesthesiology-worldwide
#20
David F Vener, Michael Gaies, Jeffrey P Jacobs, Sara K Pasquali
The growth in large-scale data management capabilities and the successful care of patients with congenital heart defects have coincidentally paralleled each other for the last three decades, and participation in multicenter congenital heart disease databases and registries is now a fundamental component of cardiac care. This manuscript attempts for the first time to consolidate in one location all of the relevant databases worldwide, including target populations, specialties, Web sites, and participation information...
January 2017: World Journal for Pediatric & Congenital Heart Surgery
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