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Neonatal cardiac disorders

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
Shashi Kumar Gupta, Ariana Foinquinos, Sabrina Thum, Janet Remke, Karina Zimmer, Christophe Bauters, Pascal de Groote, Reinier A Boon, Leon J de Windt, Sebastian Preissl, Lutz Hein, Sandor Batkai, Florence Pinet, Thomas Thum
BACKGROUND: Aging populations show higher incidences of myocardial infarction (MI) and heart failure (HF). Cardiac remodeling post-MI leads to progressive impaired cardiac function caused by a disarray of several processes including derailed autophagy. Microribonucleic acids (miRNAs) are known to be key players in cardiovascular disease but their involvement in cardiac autophagy and aging is not well understood. OBJECTIVES: This study sought to identify new miRNA candidates that regulate cardiac autophagy and aging...
October 4, 2016: Journal of the American College of Cardiology
Elena G Govorunova, Shane R Cunha, Oleg A Sineshchekov, John L Spudich
Optical control of the heart muscle is a promising strategy for cardiology because it is more specific than traditional electrical stimulation, and allows a higher temporal resolution than pharmacological interventions. Anion channelrhodopsins (ACRs) from cryptophyte algae expressed in cultured neonatal rat ventricular cardiomyocytes produced inhibitory currents at less than one-thousandth of the light intensity required by previously available optogenetic tools, such as the proton pump archaerhodopsin-3 (Arch)...
2016: Scientific Reports
Sabina Patel, Girish Rayanagoudar, Susan Gelding
Magnesium is the second most abundant intracellular cation and plays an essential role in neuronal, skeletal and cardiac tissue. Hypomagnesaemia can cause hypocalcaemia by inhibiting parathyroid hormone release and inducing resistance at its receptor sites. Untreated hypomagnesaemia can lead to tetany, recurrent seizures, status epilepticus and life-threatening arrhythmias. Primary hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare metabolic disorder of intestinal magnesium absorption. The condition typically presents in the neonatal period with neuromuscular excitability and seizures refractory to antiepileptic therapy...
2016: BMJ Case Reports
Yasunari Niimi
Intracranial arteriovenous shunts (ICAVSs) in young children are characterized with frequent high flow fistulas. In association of high flow fistulas and physiological condition of the developing brain and heart, each disease tends to present at a certain age with unique symptoms. Vein of Galen aneurysmal malformation (VGAM) and dural sinus malformation (DSM) with arteriovenous (AV) shunts tend to present in neonate with high output cardiac failure. In infancy, VGAM, pial AVF and infantile dural AVF tend to present with hydrodynamic disorder such as macrocephaly, ventriculomegaly, prominent facial veins, and developmental delay...
September 7, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Zsanett Renáta Csoma, Angéla Meszes, Rita Ábrahám, Lajos Kemény, Gyula Tálosi, Péter Doró
BACKGROUND/OBJECTIVES: Recent technological advances and diagnostic and therapeutic innovations have resulted in an impressive improvement in the survival of newborn infants requiring intensive care. Consequently, with the use of modern invasive diagnostic and therapeutic procedures, the incidence of iatrogenic events has also increased. The aim of this study was to assess various iatrogenic complications in neonates requiring intensive care and determine possible contributing factors to the injuries...
September 2016: Pediatric Dermatology
Timothy P Canavan, Lyndon M Hill
OBJECTIVES: A fetal persistent intrahepatic right umbilical vein has been linked to anomalies and genetic disorders but can be a normal variant. We conducted a retrospective review to determine other sonographic findings that can stratify fetuses for further evaluation. METHODS: A total of 313 fetuses had a persistent intrahepatic right umbilical vein identified on 17- to 24-week sonography. The outcome was any major congenital anomaly or an adverse neonatal outcome, which was defined as aneuploidy, fetal demise, or neonatal death...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Jihene Methlouthi, Nabiha Mahdhaoui, Manel Bellaleh, Aida Guith, Douha Zouari, Hedia Ayech, Sonia Nouri, Hassen Séboui
INTRODUCTION: Congenital heart defects are the most common congenital malformations in the newborn with an estimated incidence ranging between 6-9 ‰. In Tunisia, this incidence reaches 1.9 ‰. This can be explained by misdiagnosed cases. In fact, the diagnosis is based mainly on clinical examination which allows making the diagnosis only in 50 in 75 % of the cases. Several studies showed the interest of pulse oximetry oximeter in the screening of cyanogenic and duct dependent congenital heart diseases...
March 2016: La Tunisie Médicale
Shi-Min Yuan, Song-Li Yan
Mitral valve prolapse is a benign condition. Mitral regurgitation is only complicated in patients with severe mitral valve prolapse. Women with mitral valve prolapse in the absence of other cardiovascular disorders tolerate pregnancy well and do not develop remarkable cardiac complications. Nevertheless, serious complications of mitral valve prolapse, including arrhythmia, infective endocarditis and cerebral ischemic events, can be present in pregnancy. Debates remain with regard to the use of prophylactic antibiotics and β-blockers in the pregnant women with mitral valve prolapse...
April 2016: Brazilian Journal of Cardiovascular Surgery
Joris Van Cauwenberge, Lasse Lovstakken, Solveig Fadnes, Alfonso Rodriguez-Molares, Jan Vierendeels, Patrick Segers, Abigail Swillens
Ultrafast vector flow imaging would benefit newborn patients with congenital heart disorders, but still requires thorough validation before translation to clinical practice. This study investigates 2D speckle tracking of intraventricular blood flow in neonates when transmitting diverging waves at ultrafast frame rate. Computational and in-vitro studies enabled us to quantify the performance and identify artefacts related to the flow and the imaging sequence. First, synthetic ultrasound images of a neonate's left ventricular flow pattern were obtained with the ultrasound simulator Field II by propagating point scatterers according to 3D intraventricular flow fields obtained with computational fluid dynamics (CFD)...
August 1, 2016: IEEE Transactions on Ultrasonics, Ferroelectrics, and Frequency Control
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H Al Turki, Bernard Thienpont, Jeremy McRae, Tomas W Fitzgerald, Tarjinder Singh, Ganesh Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul-Khaliq, Siddharth Banka, Ulrike M M Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu'Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba J Louw, Ashok Kumar Manickara, Dorin Manase, Karen P McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury-Ecob, Seham Osman Omer, Willem H Ouwehand, Soo-Mi Park, Michael J Parker, Thomas Pickardt, Martin O Pollard, Leema Robert, David J Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E F Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F Wright, Helen V Firth, Jeffrey C Barrett, Koenraad Devriendt, David R FitzPatrick, J David Brook, Matthew E Hurles
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281)...
September 2016: Nature Genetics
Alban-Elouen Baruteau, Robert H Pass, Jean-Benoit Thambo, Albin Behaghel, Solène Le Pennec, Elodie Perdreau, Nicolas Combes, Leonardo Liberman, Christopher J McLeod
UNLABELLED: Atrioventricular block is classified as congenital if diagnosed in utero, at birth, or within the first month of life. The pathophysiological process is believed to be due to immune-mediated injury of the conduction system, which occurs as a result of transplacental passage of maternal anti-SSA/Ro-SSB/La antibodies. Childhood atrioventricular block is therefore diagnosed between the first month and the 18th year of life. Genetic variants in multiple genes have been described to date in the pathogenesis of inherited progressive cardiac conduction disorders...
September 2016: European Journal of Pediatrics
Xue Liu, Ying Zhang, Weijie Du, Haihai Liang, Hua He, Lu Zhang, Zhenwei Pan, Xuelian Li, Chaoqian Xu, Yuhong Zhou, Leimin Wang, Ming Qian, Tianyi Liu, Hongli Yin, Yanjie Lu, Baofeng Yang, Hongli Shan
BACKGROUND/AIMS: Acute myocardial infarction (AMI) is a devastating cardiovascular disease with a high rate of morbidity and mortality, partly due to enhanced arrhythmogenicity. MicroRNAs (miRNAs) have been shown to participate in the regulation of cardiac ion channels and the associated arrhythmias. The purpose of this study was to test our hypothesis that miR-223-3p contributes to the electrical disorders in AMI via modulating KCND2, the gene encoding voltage-gated channel Kv4.2 that carries transient outward K+ current Ito...
2016: Cellular Physiology and Biochemistry
Mafalda Mucciolo, Claudio Dello Russo, Laura D'Emidio, Alvaro Mesoraca, Claudio Giorlandino
Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect...
2016: International Journal of Molecular Sciences
Angira Patel, John M Costello, Carl L Backer, Sara K Pasquali, Kevin D Hill, Amelia S Wallace, Jeffrey P Jacobs, Marshall L Jacobs
BACKGROUND: Among patients with congenital heart disease (CHD), the coexistence of noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen because increased screening and improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac operations using a large nationally representative clinical registry...
June 17, 2016: Annals of Thoracic Surgery
Mohammad Miryounesi, Mehdi Dianatpour, Zahra Shadmani, Soudeh Ghafouri-Fard
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment...
May 2016: Iranian Journal of Medical Sciences
Zhi Yi, Hong Pan, Lin Li, Hairong Wu, Songtao Wang, Yinan Ma, Yu Qi
INTRODUCTION: Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carriers are asymptomatic due to extremely or completely skewed X-inactivation. METHODS: A retrospective clinical and molecular study was conducted to examine 16 patients and two fetuses from 10 families who were identified among patients with Xq28 duplications who presented at genetic clinics...
May 11, 2016: European Journal of Medical Genetics
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis
Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often elusive and the resulting inability to provide a precise diagnosis precludes proper reproductive and fetal risk assessment. We report the development and first applications of an expanded exome sequencing-based test, coupled to a bioinformatics-driven prioritization algorithm, targeting gene disorders presenting with abnormal prenatal ultrasound findings...
2016: PeerJ
Emily Zimmerman, Jill L Maron
Forkhead box protein P2 (FOXP2) is a well-studied gene known to play an essential role in normal speech development. Deletions in the gene have been shown to result in developmental speech disorders and regulatory disruption of downstream gene targets associated with common forms of language impairments. Despite similarities in motor planning and execution between speech development and oral feeding competence, there have been no reports to date linking deletions within the FOXP2 gene to oral feeding impairments in the newborn...
January 2016: Cold Spring Harbor Molecular Case Studies
Sura Alwan, Jan M Friedman, Christina Chambers
Selective serotonin reuptake inhibitors (SSRIs) are the most commonly prescribed antidepressant medications worldwide. However, over the past decade, their use during pregnancy, a period of extreme vulnerability to the onset of depression, has become highly concerning to patients and their healthcare providers in terms of safety to the developing fetus. Exposure to SSRIs in pregnancy has been associated with miscarriage, premature delivery, neonatal complications, birth defects-specifically cardiac defects-and, more recently, neurodevelopmental disorders in childhood, specifically autism spectrum disorders...
June 2016: CNS Drugs
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