Results 41 to 50 of about 177,391 (311)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Can Zika Account for the Missing Babies?

Frontiers in Public Health, 2017
The Zika virus (ZIKV) spread rapidly in Brazil in 2015 and 2016. Rio de Janeiro was among the Brazilian cities which were hit the hardest, with more that a hundred thousand confirmed cases up to the end of 2016.
Flávio Codeço Coelho, Margaret Armstrong, Valeria Saraceni, Cristina Lemos   +3 more
doaj   +1 more source

INFECTIONS OF THE NEWBORNS: ETIOLOGY AND EPIDEMIOLOGY [PDF]

Romanian Journal of Pediatrics, 2008
Infections are a frecvent and important cause of morbidity and mortality in the newborn period. Infections in the newborn infant may be required in utero (congenital), at the terme/or birth (perinatal), or after birth and during the neonatal period ...
Valeriu Popescu
doaj   +1 more source

The effectiveness of mHealth interventions for maternal, newborn and child health in low- and middle-income countries:Protocol for a systematic review and meta-analysis [PDF]

, 2014
Rates of maternal, newborn and child (MNCH) mortality and morbidity are vastly greater in low– than in high–income countries and represent a major source of global health inequity.
Begg, Black, Chib, Dudley, Egger, Free, Free, Kerber, Labrique, Lund, Mwaniki, Noordam, Pande, Perry, Ronsmans, Tamrat, Tomlinson, Van Malderen, Wulf   +18 more
core   +7 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Anesthetic management of neonates undergoing diagnostic and therapeutic cardiac catheterization: a systematic literature review [PDF]

Revista Brasileira de Anestesiologia
Background: Several interventional cardiology procedures are required in neonates with congenital heart disease. Interventional cardiology procedures have a higher risk of cardiac arrest compared to other interventions.
Lina M. Valencia-Arango, Angélica P. Fajardo-Escolar, Juan C. Segura-Salguero, Santiago Sáenz-Quispe, Carolina Rincón-Restrepo, Adriana Posada, Vivian Ronderos, Ana H. Perea-Bello   +7 more
doaj   +4 more sources

Neonatal meningitis caused by streptococcus pneumonia in Iran [PDF]

, 2015
Meningitis, pneumonia, and sepsis in newborns and young infants ...
Alaee, E., Bakhtiari, M., Shaye, M.A., Shaye, Z.A.   +3 more
core  

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Breastfeeding, Malta 2002 [PDF]

, 2002
Although the scientific and economic benefits in support of breastfeeding over formula feeds is overwhelming, Malta retains one of the lowest rates for breastfeeding in almost all developed and several under-developed countries.
Attard Montalto, Simon
core