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https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#1
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#2
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28525548/computational-fluid-dynamics-characterization-of-pulsatile-flow-in-central-and-sano-shunts-connected-to-the-pulmonary-arteries-importance-of-graft-angulation-on-shear-stress-induced-platelet-mediated-thrombosis
#3
Robert Ascuitto, Nancy Ross-Ascuitto, Martin Guillot, Carey Celestin
OBJECTIVES: Central (aorta) and Sano (right ventricle)-to-pulmonary artery (PA) shunts, palliative operations for infants with complex heart defects, can develop life-threatening thrombosis. We employed computational fluid dynamics (CFD) to study pulsatile flow in these shunts, with the goal to identify haemodynamic characteristics conducive to thrombus formation. METHODS: CFD, using the finite volume method with cardiac catheterization data, and computer simulations, based on angiography, were employed to determine flow-velocity field, wall shear stress (WSS) profile and oscillatory shear index (OSI)...
May 19, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28520847/maternal-exposure-to-nitrogen-dioxide-intake-of-methyl-nutrients-and-congenital-heart-defects-in-offspring
#4
Jeanette A Stingone, Thomas J Luben, Suzan L Carmichael, Arthur S Aylsworth, Lorenzo D Botto, Adolfo Correa, Suzanne M Gilboa, Peter H Langlois, Wendy N Nembhard, Jennifer Richmond-Bryant, Gary M Shaw, Andrew F Olshan
Nutrients that regulate methylation processes may modify susceptibility to the effects of air pollutants. Data from the National Birth Defects Prevention Study, 1997-2006, were used to estimate associations between maternal exposure to nitrogen dioxide (NO2), dietary intake of methyl nutrients and the odds of congenital heart defects in offspring. NO2 concentrations, a marker of traffic-related air pollution, averaged across post-conception weeks 2-8, were assigned to 6160 non-diabetic mothers of cases and controls using inverse distance-squared weighting of air monitors within 50 km of maternal residence...
May 18, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28515759/department-of-pediatric-cardiac-surgery-in-gdansk-in-its-new-location-previous-activity-and-perspectives-for-development
#5
Ireneusz Haponiuk, Maciej Chojnicki, Mariusz Steffens, Radosław Jaworski, Aneta Szofer-Sendrowska, Konrad Paczkowski, Ewelina Kwaśniak, Anna Romanowicz, Wiktor Szymanowicz, Katarzyna Gierat-Haponiuk
The Department of Pediatric Cardiac Surgery in Gdansk is the only pediatric cardiac surgery center in northern Poland providing comprehensive treatment to children with congenital heart defects. The Department of Pediatric Cardiac Surgery in Gdansk currently offers a full spectrum of advanced procedures of modern cardiac surgery and interventional cardiology dedicated to patients from infancy to adolescence. January 19, 2016 marked the official opening of its new location.
March 2017: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28515370/acute-kidney-injury-following-cardiopulmonary-bypass-in-children%C3%A3-risk-factors-and-outcomes
#6
Seon Hwa Lee, Soo-Jin Kim, Hyung Joong Kim, Jae Sung Son, Ran Lee, Tae Gyoon Yoon
BACKGROUND: Acute kidney injury (AKI) is the most common and most serious complication following heart surgery. We aimed to determine the prevalence of, and risk factors for, AKI following pediatric cardiac surgery.Methods and Results:We retrospectively analyzed 135 patients aged ≤18 years who underwent cardiac surgery for congenital heart defects; by RACHS-1 category, 58 patients (43%) had an operative risk score ≥3. AKI was defined and classified using the pediatric pRIFLE criteria (Pediatric Risk, Injury, Failure, Loss, and End-stage Kidney Disease); 19 patients (14...
May 17, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28506266/impact-of-preterm-birth-on-infant-mortality-for-newborns-with-congenital-heart-defects-the-epicard-population-based-cohort-study
#7
Enora Laas, Nathalie Lelong, Pierre-Yves Ancel, Damien Bonnet, Lucile Houyel, Jean-François Magny, Thibaut Andrieu, François Goffinet, Babak Khoshnood
BACKGROUND: Congenital heart defects (CHD) and preterm birth (PTB) are major causes of infant mortality. However, limited data exist on risk of mortality associated with PTB for newborns with CHD. Our objective was to assess impact of PTB on risk of infant mortality for newborns with CHD, while taking into account the role of associated anomalies and other potentially confounding factors. METHODS: We used data on 2172 live births from a prospective population-based cohort study of CHD (the EPICARD Study) and compared neonatal, post-neonatal and overall infant mortality for infants born at <32, 32-34 and 35-36 weeks vs...
May 15, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28505706/the-three-vessels-and-trachea-view-3vtv-in-the-first-trimester-of-pregnancy-an-additional-tool-in-screening-for-congenital-heart-defects-chd-in-an-unselected-population
#8
Valentina De Robertis, Georgios Rembouskos, Tiziana Fanelli, Grazia Volpe, Brunella Muto, Paolo Volpe
OBJECTIVE: The aim of the study was to evaluate the feasibility of obtaining the 3VTV in an unselected population undergoing first trimester screening for aneuploidy, and to investigate its role in the early detection of CHD. METHODS: Cardiac examination was performed by expert sonographers. Abnormal findings of 3VTV were classified in 3 different subgroups: number, size and spatial relationship of the vessels. RESULTS: We enrolled 6350 consecutive singleton pregnancies and included 5343 cases...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28505225/original-findings-and-updated-meta-analysis-for-the-association-between-maternal-diabetes-and-risk-for-congenital-heart-disease-phenotypes
#9
Thanh T Hoang, Lisa K Marengo, Laura E Mitchell, Mark A Canfield, A J Agopian
Maternal diabetes is associated with congenital heart defects (CHDs) as a group, but few studies have assessed risk for specific CHD phenotypes. We analyzed these relationships using data from the Texas Birth Defects Registry and statewide vital records for deliveries taking place in 1999-2009 (n = 48,249 cases). We used Poisson regression to calculate prevalence ratios for the associations between maternal diabetes (pregestational or gestational) and each CHD phenotype, adjusting for potential confounders...
May 13, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28504326/preoperative-colonization-in-pediatric-cardiac-surgery-and-its-impact-on-postoperative-infections
#10
Simona Silvetti, Marco Ranucci, Giuseppe Isgrò, Valentina Villa, Elena Costa
BACKGROUND: Patients with congenital heart defects are frequently hospitalized before surgery. This exposes them to a high risk for pathogen colonization. There are limited data on colonization prevalence in the pediatric cardiac population, and limited data concerning its potential role in the risk of developing infections after cardiac surgery. AIM: This study aimed to verify the impact of preoperative colonization on postoperative infections in a population of pediatric cardiac surgery patients coming from Italy and developing countries...
May 15, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28502187/impaired-ventilatory-efficiency-after-closure-of-atrial-or-ventricular-septal-defect
#11
Johan Heiberg, Camilla Nyboe, Vibeke E Hjortdal
OBJECTIVES: Atrial and ventricular septal defects are the most common congenital heart defects and the closing procedures share important similarities. Generally, the postoperative outcome is considered benign, but there is growing concern regarding late ventilatory function. Therefore, the aim of this review was to describe the ventilatory function in patients with open as well as percutaneously or surgically closed atrial and ventricular septal defects. METHODS: We performed a search protocol based on the "Preferred Reporting Items for Systematic Reviews and Meta-Analyses" (PRISMA) guidelines...
May 13, 2017: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/28496102/partial-microduplication-in-the-histone-acetyltransferase-complex-member-kansl1-is-associated-with-congenital-heart-defects-in-22q11-2-microdeletion-syndrome-patients
#12
Luis E León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M Repetto
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11...
May 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28489314/unclassifiable-pattern-of-hypopigmentation-in-a-patient-with-mosaic-partial-12p-tetrasomy-without-pallister-killian-syndrome
#13
Viola Alesi, Maria L Dentici, Fabrizia Restaldi, Valeria Orlando, Maria T Liambo, Chiara Calacci, Rossella Capolino, Maria C Digilio, May El Hachem, Antonio Novelli, Andrea Diociaiuti, Bruno Dallapiccola
Pallister-Killian syndrome (PKS-#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a supernumerary tetrasomic chromosomal marker (SCM) arisen from the short arm of chromosome 12 (12p isochromosome). The clinical phenotype, which is strictly related to the percentage and tissue distribution of aneuploid cells, is characterized by craniofacial dysmorphisms, pigmentary skin anomalies, limb shortening, congenital heart defects, diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28484359/evaluation-of-congenital-heart-defects-treatment-options-establishment-of-pediatric-cardiology-cardiosurgery-in-bosnia-and-herzegovina
#14
REVIEW
Zijo Begic, Sanko Pandur, Edo Omerbasic, Almira Kadic, Mirza Halimic
INTRODUCTION: Modern pediatric cardiology mainly deals with congenital heart defects (CHD), as the most common congenital anomalies. In most cases CHD requires surgical or interventional treatment. GOAL: The goal of the research was to evaluate CHD treatment at Pediatric Clinic, University Clinical Center (UCC) Sarajevo, Bosnia and Herzegovina (B&H). UCC Sarajevo is the only institution in B&H where cardiac treatment of CHD in pediatric population is performed. Pediatric cardiosurgery has started to develop in Bosnia and Herzegovina in April 1997...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28484354/implementation-of-congenital-heart-diseases-screening-at-the-bihac-cantonal-hospital
#15
Mediha Kardasevic, Ida Jovanovic, Jelica Predojevic Samardzic
INTRODUCTION: Congenital heart defects (CHD) were the most common birth defects, and the most common cause of death in infants with congenital anomalies in developed countries. Early detection of these anomalies would greatly enhance the effect of therapeutic procedures and the final outcome. Lately, pulse oximetry (PO) is used for the purpose of screening the cyanotic congenital heart defects. PO in combination with the clinical examination has greater diagnostic sensitivity in detection of CHD...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28483478/left-aberrant-subclavian-artery-systematic-study-in-adult-patients
#16
Paweł Tyczyński, Ilona Michałowska, Rafał Wolny, Piotr Dobrowolski, Hubert Łazarczyk, Justyna Rybicka, Piotr Hoffman, Adam Witkowski
BACKGROUND: Left aberrant subclavian artery (LASA), is a type of right aortic arch (RAA) branching, which takes-off distally to the right subclavian artery and usually crosses behind the esophagus to the left upper limb. Taking into account the rarity of RAA, LASA is much more rarely seen than the right aberrant subclavian artery (RASA) originating from the left aortic arch. However, RAA may be associated with much more frequent presence of LASA, than left aortic arch with RASA. Anatomical LASA characteristics were not described up to date...
April 25, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28482343/fetal-tricuspid-regurgitation-in-the-first-trimester-as-a-screening-marker-for-congenital-heart-defects-systematic-review-and-meta-analysis
#17
Carolina Scala, Maddalena Morlando, Alessandra Familiari, Umberto Leone Roberti Maggiore, Simone Ferrero, Francesco D'Antonio, Asma Khalil
BACKGROUND: Assessment of tricuspid flow has been reported to improve the performance of screening for aneuploidies and congenital heart defects (CHD). However, the performance of tricuspid regurgitation (TR) as a screening marker for CHD in euploid fetuses is yet to be established. The main aim of this meta-analysis was to establish the predictive accuracy of TR for CHD. METHODS: MEDLINE, Embase, and the Cochrane Library were searched electronically utilizing combinations of the relevant medical subject heading for "fetus," "tricuspid regurgitation," and "first trimester...
May 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28481742/ultraprotective-ventilation-during-cpb-protects-the-alveolar-capillary-barrier-in-pulmonary-normotensive-congenital-heart-patients
#18
Ugur Gocen, Atakan Atalay
BACKGROUND: Alveolar-capillary membrane damage develops as a result of the inflammatory effect of cardiopulmonary bypass (CPB). In the presence of a healthy alveolar-capillary barrier, there is little or no surfactant in the blood. The aim of this study was to evaluate the protective effects of ultraprotective ventilation during CPB by measuring serum and bronchoalveolar lavage (BAL) surfactant protein B (SPB) values in congenital heart surgery. METHODS: This prospective study was designed for 46 patients with congenital heart defects...
May 1, 2017: Heart Surgery Forum
https://www.readbyqxmd.com/read/28477319/transition-of-care-in-congenital-heart-disease-ensuring-the-proper-handoff
#19
REVIEW
Angela Lee, Barbara Bailey, Geraldine Cullen-Dean, Sandra Aiello, Joanne Morin, Erwin Oechslin
BACKGROUND: With great advances in medical and surgical care, most congenital heart disease patients are living in to adulthood and require lifelong surveillance and expert care for adult onset complications. Care lapse and lack of successful transfer from pediatric to adult care put young adults at risk for increased morbidity and premature death. Hence, transition and transfer from pediatric to adult care is a crucial and critical process to provide access to specialized care and lifelong surveillance...
June 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28475963/variable-expressivity-of-tctex1d2-mutations-and-a-possible-pathogenic-link-of-molar-incisor-malformation-to-ciliary-dysfunction
#20
Johannes Zschocke, Anna Schossig, Dieter D Bosshardt, Daniela Karall, Rudolf Glueckert, Ines Kapferer-Seebacher
OBJECTIVE: Clarification of the molecular basis of a ciliopathy associated with molar-incisor malformation in a consanguineous Turkish family. DESIGN: Full dental and clinical examinations, histologic analysis, comprehensive genetic analyses including exome sequencing, ciliary function tests and transmission electron microscopy of ciliary biopsies in the surviving patient. RESULTS: Two siblings had situs inversus and complex heart defects suggestive of ciliary dysfunction...
April 20, 2017: Archives of Oral Biology
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