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Neonatal cardiac disorders

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https://www.readbyqxmd.com/read/29429769/neurodevelopmental-outcomes-of-infants-with-esophageal-atresia-and-tracheoesophageal-fistula
#1
Wegdan Mawlana, Paul Zamiara, Hilary Lane, Margaret Marcon, Eveline Lapidus-Krol, Priscilla Pl Chiu, Aideen M Moore
BACKGROUND: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a complex disorder, and most outcome data are confined to mortality and feeding-related morbidities. Our objective was to examine mortality, growth and neurodevelopmental outcomes in a large recent cohort of infants with EA/TEF. METHODS: Single center study of EA/TEF infants referred from January 2000 to December 2015. Data collected included associated defects, neonatal morbidity and mortality and growth and neurodevelopmental outcomes at age 12-36months...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29392082/apelin-ameliorates-high-glucose-induced-downregulation-of-connexin-43-via-ampk-dependent-pathway-in-neonatal-rat-cardiomyocytes
#2
Xiaoting Li, Lu Yu, Jing Gao, Xukun Bi, Juhong Zhang, Shiming Xu, Meihui Wang, Mengmeng Chen, Fuyu Qiu, Guosheng Fu
Diabetes Mellitus is a common disorder, with increasing risk of cardiac arrhythmias. Studies have shown that altered connexin expression and gap junction remodeling under hyperglycemia contribute to the high prevalence of cardiac arrhythmias and even sudden death. Connexin 43 (Cx43), a major protein that assembles to form cardiac gap junctions, has been found to be downregulated under high glucose conditions, along with inhibition of gap junctional intercellular communication (GJIC). While, apelin, a beneficial adipokine, increases Cx43 protein expression in mouse and human embryonic stem cells during cardiac differentiation...
February 2018: Aging and Disease
https://www.readbyqxmd.com/read/29362619/kosovo-s-experience-for-children-with-feeding-difficulties-after-cardiac-surgery-for-congenital-heart-defect
#3
Ramush Bejiqi, Ragip Retkoceri, Hana Bejiqi, Arlinda Maloku, Armend Vuçiterna, Naim Zeka, Abdurrahim Gerguri, Rinor Bejiqi
BACKGROUND: A feeding disorder in infancy and during childhood is a complex condition involving different symptoms such as food refusal and faddiest, both leading to a decreased food intake. AIM: We aimed to assess the prevalence and predictor factors of feeding difficulties in children who underwent cardiac open heart surgery in neonatal period and infancy. We address selected nutritional and caloric requirements for children after cardiac surgery and explore nutritional interdependence with other system functions...
December 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29345153/selective-serotonin-reuptake-inhibitor-use-in-pregnant-women-pharmacogenetics-drug-drug-interactions-and-adverse-effects
#4
Asher Ornoy, Gideon Koren
Possible negative effects of selective serotonin reuptake inhibitors (SSRIs) in pregnancy relate to congenital anomalies, negative perinatal events and neurodevelopmental outcome. Many studies are confounded by the underlying maternal disease and by pharmacogenetic and pharmacokinetic differences of these drugs. Areas covered: The possible interactions of SSRIs and serotonin and norepinephrine reuptake inhibitors with other drugs and the known effects of SSRIs on congenital anomalies, perinatal and neurodevelopmental outcome...
January 18, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#5
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#6
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29124685/mitochondrial-trifunctional-protein-deficiency-severe-cardiomyopathy-and-cardiac-transplantation
#7
C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function...
November 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29078380/large-g-protein-%C3%AE-subunit-xl%C3%AE-s-limits-clathrin-mediated-endocytosis-and-regulates-tissue-iron-levels-in-vivo
#8
Qing He, Richard Bouley, Zun Liu, Marc N Wein, Yan Zhu, Jordan M Spatz, Chia-Yu Wang, Paola Divieti Pajevic, Antonius Plagge, Jodie L Babitt, Murat Bastepe
Alterations in the activity/levels of the extralarge G protein α-subunit (XLαs) are implicated in various human disorders, such as perinatal growth retardation. Encoded by GNAS, XLαs is partly identical to the α-subunit of the stimulatory G protein (Gsα), but the cellular actions of XLαs remain poorly defined. Following an initial proteomic screen, we identified sorting nexin-9 (SNX9) and dynamins, key components of clathrin-mediated endocytosis, as binding partners of XLαs. Overexpression of XLαs in HEK293 cells inhibited internalization of transferrin, a process that depends on clathrin-mediated endocytosis, while its ablation by CRISPR/Cas9 in an osteocyte-like cell line (Ocy454) enhanced it...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29050752/maternal-substance-use-disorders-and-infant-outcomes-in-the-first-year-of-life-among-massachusetts-singletons-2003-2010
#9
Sunah S Hwang, Hafsatou Diop, Chia-Ling Liu, Qi Yu, Hermik Babakhanlou-Chase, Xiaohui Cui, Milton Kotelchuck
OBJECTIVE: To determine the association of maternal substance use disorders (SUDs) during pregnancy with adverse neonatal outcomes and infant hospital re-admissions, observational stays, and emergency department utilization in the first year of life. STUDY DESIGN: We analyzed 2 linked statewide datasets from 2002 to 2010: the Massachusetts Pregnancy to Early Life Longitudinal data system and the Massachusetts Bureau of Substance Abuse Services Management Information System...
October 16, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29049846/successful-management-of-transfusion-dependent-congenital-dyserythropoietic-anemia-type-1b-with-interferon-alfa-2a
#10
Mathias Rathe, Michael Boe Møller, Pernille Wied Greisen, Niels Fisker
The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities...
October 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29022989/prophylactic-intravenous-calcium-therapy-for-exchange-blood-transfusion-in-the-newborn
#11
REVIEW
Tinuade A Ogunlesi, Foluso Ea Lesi, Olabisi Oduwole
BACKGROUND: Exchange blood transfusion (EBT) is a form of whole blood transfusion in which the total blood volume is replaced within a few hours. In perinatal and neonatal medicine, EBT is most often used in the management of severe anaemia or severe hyperbilirubinaemia in the first week of life. Hypocalcaemia, one of the common morbidities associated with EBT, is thought to arise from the chelating effects of the citrate commonly used as an anticoagulant in the donor's blood. This disorder manifests with muscular and nervous irritability and cardiac arrhythmias...
October 12, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28966921/echocardiographic-evaluation-of-hemodynamics-in-neonates-and-children
#12
REVIEW
Yogen Singh
Hemodynamic instability and inadequate cardiac performance are common in critically ill children. The clinical assessment of hemodynamic status is reliant upon physical examination supported by the clinical signs such as heart rate, blood pressure, capillary refill time, and measurement of the urine output and serum lactate. Unfortunately, all of these parameters are surrogate markers of cardiovascular well-being and they provide limited direct information regarding the adequacy of blood flow and tissue perfusion...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28898996/the-expression-of-the-rare-caveolin-3-variant-t78m-alters-cardiac-ion-channels-function-and-membrane-excitability
#13
Giulia Campostrini, Mattia Bonzanni, Alessio Lissoni, Claudia Bazzini, Raffaella Milanesi, Elena Vezzoli, Maura Francolini, Mirko Baruscotti, Annalisa Bucchi, Ilaria Rivolta, Matteo Fantini, Stefano Severi, Riccardo Cappato, Lia Crotti, Peter J Schwartz, Dario DiFrancesco, Andrea Barbuti
Aims: Caveolinopathies are a family of genetic disorders arising from alterations of the caveolin-3 (cav-3) gene. The T78M cav-3 variant has been associated with both skeletal and cardiac muscle pathologies but its functional contribution, especially to cardiac diseases, is still controversial. Here, we evaluated the effect of the T78M cav-3 variant on cardiac ion channel function and membrane excitability. Methods and results: We transfected either the wild type (WT) or T78M cav-3 in caveolin-1 knock-out mouse embryonic fibroblasts and found by immunofluorescence and electron microscopy that both are expressed at the plasma membrane and form caveolae...
August 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28871637/deaths-and-end-of-life-decisions-differed-between-neonatal-and-paediatric-intensive-care-units-at-the-same-children-s-hospital
#14
Maartje C Snoep, Nicolaas J G Jansen, Floris Groenendaal
AIM: We compared neonatal deaths and end-of-life decisions in a neonatal intensive care unit (NICU) and paediatric intensive care unit (PICU) in a Dutch tertiary children's hospital. SUBJECTS: All 235 full-term infants who died within 28 days of life between 2003-2013 in the NICU (n=199) and PICU (n=36) were retrospectively studied. RESULTS: The median length of stay was three days in the NICU and seven days in the PICU (p=0.003). The main reasons for NICU stays were asphyxia (52...
September 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28856072/association-of-zika-virus-with-myocarditis-heart-failure-and-arrhythmias-a-literature-review
#15
REVIEW
Abdul M Minhas, Asra Nayab, Shobana Iyer, Mehek Narmeen, Kaneez Fatima, Muhammad S Khan, Jonathan Constantin
As the concerns regarding Zika virus (ZIKV) are mostly of neurological disorders, especially in neonates and infants, other possible threats of the virus may have been overlooked. Our study focuses on the potential threat that ZIKV may pose to the heart like that of similar arboviral diseases. We conducted a literature search of multiple terms in March 2017 using the search engines, PubMed, Embase, and SCOPUS. Articles were then reviewed by two independent reviewers, adhering strictly to our review criteria...
June 27, 2017: Curēus
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#16
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
#17
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
#18
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
#19
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
#20
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)
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