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Neonatal cardiac disorders

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https://www.readbyqxmd.com/read/28409752/early-appearance-of-tuberous-sclerosis-complex-on-cerebral-ultrasound-in-extremely-preterm-infant
#1
E B F Terpstra-Prinsen, K Kamphuis-Van Ulzen, K D Liem
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Diagnosis of early onset TSC in newborn infants is usually made by cardiac ultrasound because of circulatory problems due to cardiac rhabdomyoma. Early appearance of cortical tubers on cerebral ultrasound in newborn infants is very rare. Mostly TSC is diagnosed on MRI and not by cerebral ultrasound. Subependymal nodules are the usual presenting sign of TSC on cerebral ultrasound in neonates, which are often misdiagnosed as subependymal hemorrhage, calcifications or ischemic lesions after intrauterine germinal matrix hemorrhage...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#2
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28254555/epidemiology-and-outcomes-of-arterial-ischemic-stroke-in-children-the-canadian-pediatric-ischemic-stroke-registry
#3
Gabrielle A deVeber, Adam Kirton, Frances A Booth, Jerome Y Yager, Elaine C Wirrell, Ellen Wood, Michael Shevell, Ann-Marie Surmava, Patricia McCusker, M Patricia Massicotte, Daune MacGregor, E Athen MacDonald, Brandon Meaney, Simon Levin, Bernard G Lemieux, Lawrence Jardine, Peter Humphreys, Michèle David, Anthony K C Chan, David J Buckley, Bruce H Bjornson
BACKGROUND: Pediatric arterial ischemic stroke remains incompletely understood. Population-based epidemiological data inform clinical trial design but are scant in this condition. We aimed to determine age-specific epidemiological characteristics of arterial ischemic stroke in neonates (birth to 28 days) and older children (29 days to 18 years). METHODS: We conducted a 16-year, prospective, national population-based study, the Canadian Pediatric Ischemic Stroke Registry, across all 16 Canadian acute care children's hospitals...
April 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28247339/galactose-epimerase-deficiency-expanding-the-phenotype
#4
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardiomyopathy, followed by liver failure, occurred between 12 and 42 months. The finding of a serum transferrin isoelectrofocusing (IEF) type 1 pattern led to the suspicion of a congenital disorder of glycosylation (CDG)...
March 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28074825/goldenhar-syndrome-cardiac-anesthesiologist-s-perspective
#5
REVIEW
Minati Choudhury, Poonam Malhotra Kapoor
Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later. As the name denotes, children with this syndrome present with craniofacial and vertebral anomalies which increase the risk of airway compromise. Neonates and infants with this syndrome often have premature internal organs, low birth weight, and airway disorders. For this reason, safe anesthesia in such infants requires a complete knowledge regarding metabolism and side effects of the drugs...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28070248/childhood-cardiomyopathies-a-study-in-tertiary-care-hospital-in-upper-egypt
#6
Mohamed Abd Elaal Bakeet, Montaser Mohamed Mohamed, Ahmed Ahmed Allam, Rania Gamal
INTRODUCTION: Cardiomyopathy (CMP) is defined by the World Health Organization (WHO) as a disease of the myocardium associated with cardiac dysfunction. An understanding of CMP is very important, as it is a common cause of heart failure in children, and the most common indication for heart transplantation in children older than one year, but data on CMP in Egypt are scarce. The aim of this study was to determine the number, risk factors, clinical presentation, complications and outcome of different types of childhood cardiomyopathies in Sohag University Hospital...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/27968776/the-electrocardiogram-of-the-neonate-and-infant
#7
Konrad Brockmeier, Rewa Nazal, Narayanswami Sreeram
The ECG in children has a number of characteristic differences compared to the ECG of the adult. The transition of the ECG in neonates after birth represents dynamic changes of the circulatory system due to the postnatal adaptation, different physiologic properties of the fetal and neonatal myocardium, the location and orientation of the heart in the chest and influence of body mass during that period and later on in childhood. The complexity of the changes implies a broad variation of ECG changes during the first days and weeks of life, whose interpretation requires expert knowledge...
November 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/27966485/metabolic-alterations-derived-from-absence-of-two-pore-channel-1-at-cardiac-level
#8
Vanessa Garcia-Rua, Sandra Feijoo-Bandin, Maria Garcia-Vence, Alana Aragon-Herrera, Susana B Bravo, Diego Rodriguez-Penas, Ana Mosquera-Leal, Pamela V Lear, John Parrington, Jana Alonso, Esther Rosello-Lleti, Manuel Portoles, Miguel Rivera, Jose Ramon Gonzalez-Juanatey, Francisca Lago
Two-pore channels (TPCs or TPCNs) are novel voltage-gated ion channels that have been postulated to act as Ca2+ and/or Na+ channels expressed exclusively in acidic organelles such as endosomes and lysosomes. TPCNs participate in the regulation of diverse biological processes and recently have been proposed to be involved in the pathophysiology of metabolic disorders such as obesity, fatty liver disease and type 2 diabetes mellitus. Due to the importance of these pathologies in the development of cardiovascular diseases, we aimed to study the possible role of two-pore channel 1 (TPCN1) in the regulation of cardiac metabolism...
December 2016: Journal of Biosciences
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#9
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
#10
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...
March 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/27902668/pneumatosis-intestinalis-due-to-child-abuse
#11
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
#12
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
#13
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
#14
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...
January 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/27825852/osm-mitigates-post-infarction-cardiac-remodeling-and-dysfunction-by-up-regulating-autophagy-through-mst1-suppression
#15
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
#16
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
#17
REVIEW
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...
November 2016: Early Human Development
https://www.readbyqxmd.com/read/27687198/preclinical-development-of-a-microrna-based-therapy-for-elderly-patients-with-myocardial-infarction
#18
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
#19
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
#20
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...
September 13, 2016: BMJ Case Reports
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