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https://www.readbyqxmd.com/read/29786408/impact-of-additional-tricuspid-valve-annuloplasty-in-tof-patients-undergoing-pulmonary-valve-replacement
#1
Sabrina Lueck, Eike Bormann, Kathrin Rellensmann, Sven Martens, Andreas Rukosujew
BACKGROUND: Many patients with tetralogy of Fallot (TOF) who underwent surgical correction of their congenital cardiac malformation during infancy develop right ventricular dysfunction and exercise intolerance in the long term. The right ventricle (RV) dilates due to the development of severe pulmonary regurgitation (and secondary tricuspid insufficiency). To reduce RV dilation and improve exercise tolerance pulmonary valve replacement (PVR) is the common therapeutic strategy. Whether concomitant tricuspid valve repair (TVR) is beneficial in these pure volume-overload conditions is still unknown...
May 22, 2018: Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/29782383/genetic-testing-of-xy-newborns-with-a-suspected-disorder-of-sex-development
#2
Malika Alimussina, Louise Ann Diver, Ruth McGowan, Syed Faisal Ahmed
PURPOSE OF REVIEW: The current review focuses on the neonatal presentation of disorders of sex development, summarize the current approach to the evaluation of newborns and describes recent advances in understanding of underlying genetic aetiology of these conditions. RECENT FINDINGS: Several possible candidate genes as well as other adverse environmental factors have been described as contributing to several clinical subgroups of 46,XY DSDs. Moreover, registry-based studies showed that infants with suspected DSD may have extragenital anomalies and in 46,XY cases, being small for gestational age (SGA), cardiac and neurological malformations are the commonest concomitant conditions...
May 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29778384/association-of-birth-defects-with-the-mode-of-assisted-reproductive-technology-in-a-chinese-data-linkage-cohort
#3
Hui-Ting Yu, Qing Yang, Xiao-Xi Sun, Guo-Wu Chen, Nai-Si Qian, Ren-Zhi Cai, Han-Bing Guo, Chun-Fang Wang
OBJECTIVE: To evaluate the impact of assisted reproductive technology (ART) on the offspring of Chinese population. DESIGN: Retrospective, data-linkage cohort. SETTING: Not applicable. PATIENT(S): Live births resulting from ART or natural conception. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Birth defects coded according to ICD-10. RESULT(S): Births after ART were more likely to be female and multiple births, especially after intracytoplasmic sperm injection (ICSI)...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#4
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29769130/diagnostic-accuracy-of-low-dose-dual-source-cardiac-computed-tomography-as-compared-to-surgery-in-univentricular-heart-patients
#5
Narumol Chaosuwannakit, Pattarapong Makarawate
BACKGROUND: To evaluate the ability of low radiation dose dual-source computed tomography (DSCT) to depict the features of morphological univentricular heart and to define accuracy by comparing findings with surgery. METHODS: Low radiation dose dual-source cardiac computed tomography (CCT) of 33 cases of functional univentricular heart preliminary diagnosis by echocardiography compared with the results of surgery were retrospectively analyzed (aged 1 day to 4 years, median 5 months)...
May 16, 2018: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/29753824/characterization-of-the-effects-of-trace-concentrations-of-graphene-oxide-on-zebrafish-larvae-through-proteomic-and-standard-methods
#6
Wei Zou, Qixing Zhou, Xingli Zhang, Li Mu, Xiangang Hu
The effects of graphene oxide (GO) carbon nanomaterials on ecosystems have been well characterized, but the toxicity of GO at predicted environmental concentrations to living organisms at the protein level remain largely unknown. In the present work, the adverse effects and mechanisms of GO at predicted environmental concentrations were evaluated by integrating proteomics and standard analyses for the first time. The abundances of 243 proteins, including proteins involved in endocytosis (e.g., cltcb, arf6, capzb and dnm1a), oxidative stress (e...
May 10, 2018: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29753526/prenatally-versus-postnatally-diagnosed-congenital-diaphragmatic-hernia-side-stage-and-outcome
#7
Carmen Mesas Burgos, Björn Frenckner, Matias Luco, Matthew T Harting, Pamela A Lally, Kevin P Lally
AIM: To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH. MATERIAL AND METHODS: We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position...
April 14, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29751595/optical-electrophysiology-in-the-developing-heart
#8
REVIEW
Kandace Thomas, Julie Goudy, Trevor Henley, Michael Bressan
The heart is the first organ system to form in the embryo. Over the course of development, cardiomyocytes with differing morphogenetic, molecular, and physiological characteristics are specified and differentiate and integrate with one another to assemble a coordinated electromechanical pumping system that can function independently of any external stimulus. As congenital malformation of the heart presents the leading class of birth defects seen in humans, the molecular genetics of heart development have garnered much attention over the last half century...
May 11, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29751329/determination-of-metals-and-pharmaceutical-compounds-released-in-hospital-wastewater-from-toluca-mexico-and-evaluation-of-their-toxic-impact
#9
Itzayana Pérez-Alvarez, Hariz Islas-Flores, Leobardo Manuel Gómez-Oliván, Damià Barceló, Miren López De Alda, Sandra Pérez Solsona, Livier Sánchez-Aceves, Nely SanJuan-Reyes, Marcela Galar-Martínez
Due to the activities inherent to medical care units, the hospital effluent released contains diverse contaminants such as tensoactives, disinfectants, metals, pharmaceutical products and chemical reagents, which are potentially toxic to the environment since they receive no treatment or are not effectively removed by such treatment before entering the drain. They are incorporated into municipal wastewater, eventually entering water bodies where they can have harmful effects on organisms and can result in ecological damage...
May 8, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#10
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29748705/hearing-loss-in-phace-syndrome-clinical-and-radiologic-findings
#11
Mark D Mamlouk, Bree Zimmerman, Erin F Mathes, Kristina W Rosbe
PURPOSE: To characterize the types of hearing loss, auditory-related imaging findings, and hemangioma characteristics in patients with Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, and abnormalities of the Eye (PHACE) syndrome. METHODS: Retrospective medical records, audiologic data, and imaging review of all patients presenting to a tertiary care children's hospital with a proven diagnosis of PHACE syndrome from 2005 to 2016. RESULTS: Twelve patients were identified with hearing and imaging data...
May 10, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29743906/glomerular-filtration-decrease-after-diagnostic-cardiac-catheterisation-in-children-with-congenital-cardiac-malformation-the-role-of-serum-creatinine-cystatin-c-neutrophil-gelatinase-and-urine-output-monitoring
#12
Marcin Tkaczyk, Daria Tomczyk, Anna Jander, Sebastian Góreczny, Tomasz Moszura, Paweł Dryżek, Wojciech Krajewski, Ewa Głowacka, Agnieszka Wosiak
Introduction: Diagnosis of contrast induced-nephropathy (CIN) by a classic renal biomarker such as creatinine concentration can be delayed because of various factors that can influence this marker. Changes in new biomarkers such as neutrophil-gelatinase associated lipocalin (NGAL) and cystatin C are postulated to be more sensitive for recognizing patients prone to CIN-acute kidney injury (AKI). Aim: To investigate the role of NGAL and cystatin C as early biomarkers in the diagnosis of kidney injury after cardiac catheterisation...
2018: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/29733988/cardiac-related-spinal-cord-tissue-motion-at-the-foramen-magnum-is-elevated-in-type-i-chiari-malformation-patients-and-decreases-post-decompression-surgery
#13
Braden J Lawrence, Mark Luciano, John Tew, Richard G Ellenbogen, John N Oshinski, Francis Loth, Amanda P Culley, Bryn A Martin
OBJECTIVE: Type 1 Chiari malformation (CM-I) is a craniospinal disorder historically defined by cerebellar tonsillar position (TP) greater than 3-5mm below the foramen magnum (FM). This definition has come under question since quantitative measurements of cerebellar herniation do not always correspond with symptom severity. Researchers have proposed several additional radiographic diagnostic criteria based on dynamic motion of fluids and/or tissues. The present study objective was to determine if cardiac-related craniocaudal spinal cord tissue displacement is an accurate indicator of the presence of CM-I and if tissue displacement is altered with decompression...
May 4, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29731786/an-update-work-of-pulse-oximetry-screening-for-detecting-critical-congenital-heart-disease-in-the-newborn
#14
A Taksande, R Meshram, A Lohakare, S Purandare, U Biyani, J Vagha
Background: Congenital Heart Disease (CHD) is the commonest group of congenital malformations and affects 7-8 per 1000 live born newborns. Nevertheless, it is estimated that more than 50% of babies with undiagnosed CHD are not detected by routine neonatal cardiac examination. Aim: To find the incidence of CHD in newborns and to determine the accuracy of pulse oximetry for detecting clinically unrecognized critical congenital heart disease (CCHD) in the newborns...
July 2017: Images in Paediatric Cardiology
https://www.readbyqxmd.com/read/29730740/congenital-portosystemic-shunts-diagnosis-and-treatment
#15
Stéphanie Franchi-Abella, Emmanuel Gonzales, Oanez Ackermann, Sophie Branchereau, Danièle Pariente, Florent Guérin
Congenital portosystemic shunts (CPSS) are rare vascular malformations that create an abnormal connection between portal and systemic veins resulting in complete or partial diversion of the portal flow away from the liver to the systemic venous system. Different anatomic types exist and several classifications have been proposed. They can be associated with other malformations especially cardiac and heterotaxia. The main complications include hepatic encephalopathy, liver tumors, portopulmonary hypertension, and pulmonary arteriovenous shunts...
May 5, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29728721/characterization-of-the-placenta-in-the-newborn-with-congenital-heart-disease-distinctions-based-on-type-of-cardiac-malformation
#16
Jack Rychik, Donna Goff, Eileen McKay, Antonio Mott, Zhiyun Tian, Daniel J Licht, J William Gaynor
The placenta is a complex organ that influences prenatal growth and development, and through fetal programming impacts postnatal health and well-being lifelong. Little information exists on placental pathology in the presence of congenital heart disease (CHD). Our objective is to characterize the placenta in CHD and investigate for distinctions based on type of malformation present. Placental pathology from singleton neonates prenatally diagnosed and delivered at > 37 weeks gestation was analyzed. Placental findings of absolute weight, placental weight-to-newborn birth weight ratio, chorangiosis, villus maturity, thrombosis, and infarction were recorded and analyzed based on four physiological categories of CHD: (1) single ventricle-aortic obstruction, (2) single ventricle-pulmonic obstruction, (3) two-ventricle anomalies, and (4) transposition of the great arteries (TGA)...
May 4, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29726930/functional-variants-in-tbx2-are-associated-with-a-syndromic-cardiovascular-and-skeletal-developmental-disorder
#17
Ning Liu, Kelly Schoch, Xi Luo, Loren Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, Elizabeth A Worthey, Shawn Levy, Michael F Wangler, Hugo J Bellen, Shashi Vandana, Shinya Yamamoto
The seventeen genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report four individuals with an overlapping spectrum of craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments, reminiscent of DiGeorge syndrome, who are heterozygotes for TBX2 variants...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29724030/some-isolated-cardiac-malformations-can-be-related-to-laterality-defects
#18
REVIEW
Paolo Versacci, Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Marta Unolt, Giulio Calcagni, Anwar Baban, Bruno Marino
Human beings are characterized by a left⁻right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left⁻right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy . In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries—which are particularly frequent in the setting of heterotaxy —are commonly found in situs solitus with or without genetic syndromes...
May 2, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29723155/a-pilot-study-exploring-the-impact-of-cardiac-medications-on-ciliary-beat-frequency-possible-implications-for-clinical-management
#19
Rohit S Loomba, Abhinav Bhushan, Adeleye J Afolayan
BACKGROUND: Cilia are involved in several physiologic processes, and at least a single primary cilium can be found on nearly every cell in the human body. Various factors, such as pH, temperature, exposure to medications and toxins can impact ciliary function as is manifested by changes in the ciliary beat frequency. Those with ciliary dyskinesia may also have congenital cardiac malformations and may require care in a cardiac intensive care unit. This study investigates the effect on the ciliary beat frequency of medications frequently used in a cardiac intensive care unit...
May 3, 2018: Journal of Basic and Clinical Physiology and Pharmacology
https://www.readbyqxmd.com/read/29722020/atrioventricular-canal-defect-and-genetic-syndromes-the-unifying-role-of-sonic-hedgehog
#20
REVIEW
M C Digilio, F Pugnaloni, A De Luca, G Calcagni, A Baban, M L Dentici, P Versacci, B Dallapiccola, M Tartaglia, B Marino
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" demonstrated that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling...
May 3, 2018: Clinical Genetics
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