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Neonatal cardiac disorders

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https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#1
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28771625/inhibition-of-dipeptidyl-peptidase-4-ameliorates-cardiac-ischemia-and-systolic-dysfunction-by-up-regulating-the-fgf-2-egr-1-pathway
#2
Masayoshi Suda, Ippei Shimizu, Yohko Yoshida, Yuka Hayashi, Ryutaro Ikegami, Goro Katsuumi, Takayuki Wakasugi, Yutaka Yoshida, Shujiro Okuda, Tomoyoshi Soga, Tohru Minamino
Dipeptidyl peptidase 4 inhibitors are used worldwide in the management of diabetes, but their role in the prevention or treatment of cardiovascular disorders has yet to be defined. We found that linagliptin, a DPP-4 inhibitor, suppressed capillary rarefaction in the hearts of mice with dietary obesity. Metabolomic analysis performed with capillary electrophoresis/mass spectrometry (LC-MS/MS) showed that linagliptin promoted favorable metabolic remodeling in cardiac tissue, which was characterized by high levels of citrulline and creatine...
2017: PloS One
https://www.readbyqxmd.com/read/28622145/clinical-analyses-of-383-cases-with-maternal-cardiac-diseases
#3
Emine Aydin, Ozgur Ozyuncu, Dila Kasapoglu, Gokcen Orgul, Necla Ozer, Murat Yurdakok, M Sinan Beksac
AIM: To evaluate the pregnancy outcomes of women with heart disease. MATERIALS AND METHODS: In this retrospective study, 383 pregnant women with cardiac diseases were examined. The cases were classified according to the World Health Organization (WHO) classification. The distribution of the cases according to class, congenital heart diseases, mean birthweight, mean gestational week at delivery, type of delivery [cesarean section (CS) or vaginal delivery], and cardivascular events (during pregnancy and puerperium) were evaluated...
June 5, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28601176/cyanotic-congenital-heart-disease-essential-primer-for-the-practicing-radiologist
#4
REVIEW
Evan J Zucker, Jeffrey L Koning, Edward Y Lee
The cyanotic congenital heart diseases are a rare and heterogeneous group of disorders, often requiring urgent neonatal management. Although echocardiography is the mainstay for imaging, continued technological advances have expanded the role for computed tomography and magnetic resonance imaging, helping to limit invasive cardiac catheterization. In this article, the authors review the broad spectrum of cyanotic congenital heart disease, focusing on the utility of advanced noninvasive imaging modalities while highlighting key clinical features and management considerations...
July 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28593892/neonatal-hypoglycemia-risk-factors-and-outcomes
#5
Orhideja Stomnaroska, Elizabeta Petkovska, Snezana Jancevska, Dragan Danilovski
BACKGROUND AND AIMS: Severe neonatal hypoglycemia (HG) leads to neurologic damage, mental retardation, epilepsy, personality disorders, impaired cardiac performance and muscle weakness. We aimed to assess the clinical characteristics of children with hypoglycemia in a random population of newborns. PATIENTS, METHODS AND RESULTS: We investigated 84 patients (M:F=35:48) born at the University Clinic for Gynecology and Obstetrics in Skopje (hospitalized in the NICU) who were found to have hypoglycemia...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28569435/the-new-kids-on-the-block-of-arrhythmogenic-disorders-short-qt-syndrome-and-early-repolarization
#6
REVIEW
Andrea Mazzanti, Katherine Underwood, Dmitriy Nevelev, Shanna Kofman, Silvia G Priori
Short QT syndrome (SQTS) is one of the rarest inheritable cardiac channelopathies, characterized by an accelerated cardiac repolarization, which is also the substrate for the development of life-threatening ventricular arrhythmias. Up to this date, fewer than 200 SQTS cases have been reported in the literature worldwide. Patients with SQTS may experience a cardiac arrest as early as in the neonatal period or as late as 80 years old. The cumulative probability of experiencing a cardiac arrest by the fifth decade of life approaches 40%, highlighting the importance of early recognition and management...
June 1, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28553225/cardioprotective-action-of-ginkgo-biloba-extract-against-sustained-%C3%AE-adrenergic-stimulation-occurs-via-activation-of-m2-no-pathway
#7
Thássio R R Mesquita, Itamar C G de Jesus, Jucilene F Dos Santos, Grace K M de Almeida, Carla M L de Vasconcelos, Silvia Guatimosim, Fabrício N Macedo, Robervan V Dos Santos, José E R de Menezes-Filho, Rodrigo Miguel-Dos-Santos, Paulo T D Matos, Sérgio Scalzo, Valter J Santana-Filho, Ricardo L C Albuquerque-Júnior, Rose N Pereira-Filho, Sandra Lauton-Santos
Ginkgo biloba is the most popular phytotherapic agent used worldwide for treatment of several human disorders. However, the mechanisms involved in the protective actions of Ginkgo biloba on cardiovascular diseases remain poorly elucidated. Taking into account recent studies showing beneficial actions of cholinergic signaling in the heart and the cholinergic hypothesis of Ginkgo biloba-mediated neuroprotection, we aimed to investigate whether Ginkgo biloba extract (GBE) promotes cardioprotection via activation of cholinergic signaling in a model of isoproterenol-induced cardiac hypertrophy...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28530204/in-bed-vital-signs-monitoring-system-based-on-unobtrusive-magnetic-induction-method-with-a-concentric-planar-gradiometer
#8
Hadiseh Mahdavi, Javier Rosell-Ferrer
SIGNIFICANCE: Unobtrusive vital signs monitoring is of major importance for various medical areas such as detection and treatment of sleep disorders, monitoring neonates and burned victims, home health care and smart home applications and wearables among others. Such applications call for monitoring methods in which the patient's natural state is less interfered with. An ideal device would be non-invasive, minimally restrictive, robust enough to compensate movements of the patients, and would operate without relying on the patient's full cooperation...
June 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28409752/early-appearance-of-tuberous-sclerosis-complex-on-cerebral-ultrasound-in-extremely-preterm-infant
#9
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
#10
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...
June 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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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