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Neonatal cardiac disorders

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https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#1
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27913821/theobromine-upregulates-osteogenesis-by-human-mesenchymal-stem-cells-in-vitro-and-accelerates-bone-development-in-rats
#2
Bret H Clough, Joni Ylostalo, Elizabeth Browder, Eoin P McNeill, Thomas J Bartosh, H Ralph Rawls, Tetsuo Nakamoto, Carl A Gregory
Theobromine (THB) is one of the major xanthine-like alkaloids found in cacao plant and a variety of other foodstuffs such as tea leaves, guarana and cola nuts. Historically, THB and its derivatives have been utilized to treat cardiac and circulatory disorders, drug-induced nephrotoxicity, proteinuria and as an immune-modulator. Our previous work demonstrated that THB has the capacity to improve the formation of hydroxyl-apatite during tooth development, suggesting that it may also enhance skeletal development...
December 2, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27902668/pneumatosis-intestinalis-due-to-child-abuse
#3
Stephanie Anne Deutsch, Cindy W Christian
Pneumatosis intestinalis (PI) and the presence of portal venous gas (PVG) are commonly considered pathognomonic for necrotizing enterocolitis in the neonatal period; however, these 2 radiographic findings have been documented in all age groups in a variety of clinical settings and medical conditions including respiratory, cardiac, rheumatologic, gastrointestinal disorders, and traumatic injury. In children, intramural dissection of intestinal gas in the absence of clinical symptoms suggestive of necrotizing enterocolitis should raise concern for a traumatic etiology, including injuries sustained from child physical abuse...
November 29, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27843908/anterior-chamber-pathology-in-alagille-syndrome
#4
Derek K Ho, Alex V Levin, William V Anninger, David A Piccoli, Ralph C Eagle
BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27843177/structural-cardiac-lesions-in-transient-tachypnea-of-the-newborn
#5
Shankar Narayan, R Ananthakrishnan, Gurpreet Kaur
BACKGROUND: Transient tachypnea of the newborn (TTN) is considered a benign disorder. Given its self-limiting nature, few studies have looked for associated pathology. This study explores the association of TTN with structural cardiac lesions. METHODS: Over a six-month period, all inborn term and late preterm neonates with TTN (without predisposing factors) underwent 2D echocardiography within the first ten days of life, after tachypnea had subsided. Equal number of neonates born during the same period, matched for birth weight, gestational age, sex, and mode of delivery but without tachypnea, also underwent echocardiography before ten days of life...
October 2016: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/27826706/clinical-associations-of-early-dysnatremias-in-critically-ill-neonates-and-infants-undergoing-cardiac-surgery
#6
Jon Kaufman, Daniel Phadke, Suhong Tong, Jennifer Eshelman, Sarah Newman, Christopher Ruzas, Eduardo M da Cruz, Suzanne Osorio
: Dysnatremias (DN) are common electrolyte disturbances in cardiac critical illness and are known risk factors for adverse outcomes in certain populations. Little information exists on DN in children with cardiac disease admitted to the cardiac intensive care unit (CICU) after undergoing cardiac surgery, either corrective or palliative. The aim was to determine the incidence and adverse outcomes associated with DN in neonates and infants undergoing cardiac surgery. Retrospective cohort and single center study performed at Children's Hospital Colorado from May 2013 to May 2014, in children under 1 year old admitted to the CICU after undergoing surgery for congenital or acquired cardiac disease...
November 8, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27825852/osm-mitigates-post-infarction-cardiac-remodeling-and-dysfunction-by-up-regulating-autophagy-through-mst1-suppression
#7
Jianqiang Hu, Lei Zhang, Zhijing Zhao, Mingming Zhang, Jie Lin, Jiaxing Wang, Wenjun Yu, Wanrong Man, Congye Li, Rongqing Zhang, Erhe Gao, Haichang Wang, Dongdong Sun
The incidence and prevalence of heart failure (HF) in the world are rapidly rising possibly attributed to the worsened HF following myocardial infarction (MI) in recent years. Here we examined the effects of oncostatin M (OSM) on postinfarction cardiac remodeling and the underlying mechanisms involved. MI model was induced using left anterior descending coronary artery (LAD) ligation. In addition, cultured neonatal mouse cardiomyocytes were subjected to simulated MI. Our results revealed that OSM alleviated left ventricular remodeling, promoted cardiac function, restored mitochondrial cristae density and architecture disorders after 4weeks of MI...
November 4, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27824560/assessing-the-performance-of-ultrafast-vector-flow-imaging-in-the-neonatal-heart-via-multiphysics-modeling-and-in-vitro-experiments
#8
Joris Van Cauwenberge, Lasse Lovstakken, Solveig Fadnes, Alfonso Rodriguez-Morales, 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 paper investigates 2-D speckle tracking (ST) 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 artifacts 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 3-D intraventricular flow fields obtained with computational fluid dynamics (CFD)...
November 2016: IEEE Transactions on Ultrasonics, Ferroelectrics, and Frequency Control
https://www.readbyqxmd.com/read/27745924/best-practice-critical-cardiac-care-in-the-neonatal-unit
#9
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/27687198/preclinical-development-of-a-microrna-based-therapy-for-elderly-patients-with-myocardial-infarction
#10
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
https://www.readbyqxmd.com/read/27628215/anion-channelrhodopsins-for-inhibitory-cardiac-optogenetics
#11
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)...
September 15, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27624449/familial-hypomagnesaemia-with-secondary-hypocalcaemia
#12
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
https://www.readbyqxmd.com/read/27601322/endovascular-treatment-of-pediatric-intracranial-arteriovenous-shunting
#13
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
https://www.readbyqxmd.com/read/27595870/iatrogenic-skin-disorders-and-related-factors-in-newborn-infants
#14
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
https://www.readbyqxmd.com/read/27582531/neonatal-outcomes-in-fetuses-with-a-persistent-intrahepatic-right-umbilical-vein
#15
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
https://www.readbyqxmd.com/read/27575509/incidence-of-congenital-heart-disease-in-newborns-after-pulse-oximetry-screening-introduction
#16
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
https://www.readbyqxmd.com/read/27556316/mitral-valve-prolapse-in-pregnancy
#17
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
https://www.readbyqxmd.com/read/27529870/assessing-the-performance-of-ultrafast-vector-flow-imaging-in-the-neonatal-heart-via-multiphysics-modeling-and-in-vitro-experiments
#18
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
https://www.readbyqxmd.com/read/27479907/distinct-genetic-architectures-for-syndromic-and-nonsyndromic-congenital-heart-defects-identified-by-exome-sequencing
#19
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
https://www.readbyqxmd.com/read/27351174/congenital-and-childhood-atrioventricular-blocks-pathophysiology-and-contemporary-management
#20
REVIEW
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
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