Results 61 to 70 of about 115,167 (318)

Cultura de segurança do paciente em unidades de terapia intensiva neonatal [PDF]

, 2013
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Enfermagem, Florianópolis, 2013.A cultura de segurança do paciente é discutida mundialmente sendo considerada um elemento essencial
Tomazoni, Andréia
core  

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Investigate the effects of donor breast milk and formula milk on metabolites in preterm infants through non-targeted metabolomics

BMC Nutrition
Background Preterm infants’ underdeveloped gastrointestinal and immune systems increase their risk of life-threatening complications like necrotizing enterocolitis (NEC).
Fei Yang, Yanfeng Zhao, Ying Zhang, Chunyu Zhang   +3 more
doaj   +1 more source

Severe neonatal air leak syndrome – Answer

Journal of Pediatric and Neonatal Individualized Medicine, 2019
Air leak syndromes include pulmonary inter­stitial emphysema, pneumomediastinum, pneumo­thorax, pneumopericardium, pneumo­peritoneum, subcutaneous emphysema and systemic air embolism.
Catarina Matos de Figueiredo, Jorge Abreu Ferreira, Ana Cristina Freitas, Ana Novo, Elisa Proença, Carmen Carvalho, Luísa Neiva Araújo   +6 more
doaj   +1 more source

Neonatal enteral feeding tubes as loci for colonisation by members of the Enterobacteriaceae [PDF]

, 2009
Background: The objective of this study was to determine whether neonatal nasogastric enteral feeding tubes are colonised by the opportunistic pathogen Cronobacter spp. (Enterobacter sakazakii) and other Enterobacteriaceae, and whether their presence was
Armstrong, R, Hurrell, E, Hilton, Anthony C., Armstrong, Richard A., Smith, C, Shoo, S, Kucerova, E, Caubilla-Barron, J, Loughlin, Michael, Hurrell, Edward, Forsythe, S, Loughlin, M, Kucerova, Eva, Forsythe, Stephen, Grant, Judith, Shoo, Shiu, Hilton, A, Grant, J, Caubilla-Barron, Juncal, Smith, Craig   +19 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Peripheral perfusion index-reference range in healthy Portuguese term newborns

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Introduction: Peripheral perfusion index (PPI) is a non-invasive numerical value of peripheral perfusion derived from a pulse oximeter signal. It has been suggested that PPI may be a valuable adjunct diagnostic tool to detect early clinically significant
Joana Jardim, Ruben Rocha, Gorett Silva, Hercília Guimarães   +3 more
doaj   +1 more source

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

BMC Medical Genomics, 2021
Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants.
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen   +8 more
doaj   +1 more source

Advancing Neurologic Care in the Neonatal Intensive Care Unit With a Neonatal Neurologist [PDF]

Journal of Child Neurology, 2012
Neonatal neurology is a growing subspecialty area. Given the considerable amount of neurologic problems present in the neonatal intensive care unit, a neurologist with expertise in neonates is becoming more important. We sought to evaluate the change in neurologic care in the neonatal intensive care unit at our tertiary care hospital by having a ...
Sarah B, Mulkey, Christopher J, Swearingen   +1 more
openaire   +2 more sources