Results 61 to 70 of about 288,749 (359)

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

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

Trial protocol OPPTIMUM : does progesterone prophylaxis for the prevention of preterm labour improve outcome? [PDF]

, 2012
Background Preterm birth is a global problem, with a prevalence of 8 to 12% depending on location. Several large trials and systematic reviews have shown progestogens to be effective in preventing or delaying preterm birth in selected high risk women ...
A Shennan, American College of Obstetricians and Gynecologists, Andrew Shennan, Anon, AT Northen, BAPM/RCPCH Working Group Report, D Farine, D Wolke, EB da Fonseca, EB Fonseca, H Honest, IR Edwards, Jane E Norman, JE Norman, JM Dodd, JM Dodd, John Norrie, L Sanchez-Ramos, M Arbyn, M Junpeng, March of Dimes Foundation, N Modi, Neil Marlow, Neil Sebire, PA Lachenbruch, Phillip Bennett, PJ Meis, R Romero, RL Goldenberg, RN Hoover, S Kenyon, SL Kenyon, Sonia Whyte, SS Hassan, Stavros Petrou, Stephen Robson, Steven Thornton, Tina Lavender   +37 more
core   +5 more sources

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

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core  

Neonatal Cortical Auditory Evoked Potentials Are Affected by Clinical Conditions Occurring in Early Prematurity [PDF]

, 2015
Purpose: Cortical auditory evoked potentials may serve as an early indicator of developmental problems in the auditory cortex. The aim of the study was to determine the effect on neonatal cortical auditory processing of clinical conditions occurring in ...
Bisiacchi, Patrizia, Cainelli, Elisa, Cappellari, Ambra, Ermani, Mario, Sartori, Stefano, Suppiej, Agnese   +5 more
core   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Neonatal screening [PDF]

Journal of Tropical Pediatrics, 2014
Seema Kapoor, Manisha Goyal
openaire   +3 more sources

Maternal pre-pregnancy and prenatal penicillin, neonatal inflammation and growth factors are associated to ADHD in the offspring

Brain, Behavior, & Immunity - Health
Background: The etiology for Attention Deficit Hyperactivity Disorder (ADHD) is generally unknown, but both genetics, biology and environment have been shown to increase the risk.
Solveig Holmgaard, Pia Kiilerich, Nis Borbye-Lorenzen, Kristin Skogstrand   +3 more
doaj   +1 more source

Quality control requirements in neonatal screening [PDF]

, 2018
One of the key tasks for the persons in charge of a neonatal screening laboratory is the control and maintenance of the quality of analytical results. The process of examining every day hundreds of blood spot samples obtained from newborn babies in order
Torresani, Toni
core