Results 41 to 50 of about 856,105 (317)

Intonation processing in congenital amusia: discrimination, identification and imitation

, 2010
This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing.
Stewart, Lauren, Fourcin, Adrian, Stewart, L., Fourcin, A., Patel, A. D., Patel, Aniruddh D, Patel, Aniruddh, Liu, Fang   +7 more
core   +1 more source

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

Antiarrhythmic therapy for narrow QRS supraventricular tachyarrhythmias in newborns and infants in the first year of life: Potent tools to be handled with care

Indian Pacing and Electrophysiology Journal
Supraventricular tachyarrhythmias pose a significant challenge in neonates and infants, particularly within the first year of life, where prompt and effective management is crucial.
Giovanni Domenico Ciriello, Davide Sorice, Antonio Orlando, Giovanni Papaccioli, Diego Colonna, Anna Correra, Emanuele Romeo, Raffaella Esposito, Marina De Marco, Veronica Diana, Mario Giordano, Ludovica Spinelli Barrile, Maria Giovanna Russo, Berardo Sarubbi   +13 more
doaj   +1 more source

Late Onset Postcapillary Pulmonary Hypertension in Patients With Transposition of the Great Arteries and Mustard or Senning Baffles

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundThere is a paucity of data regarding late‐onset pulmonary hypertension (PH) in patients with transposition of the great arteries and atrial switch surgery.
Marie‐A. Chaix, Annie Dore, Lise‐Andrée Mercier, François‐Pierre Mongeon, François Marcotte, Réda Ibrahim, Anita W. Asgar, Azadeh Shohoudi, Fabien Labombarda, Blandine Mondésert, Nancy Poirier, Paul Khairy   +11 more
doaj   +1 more source

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

, 2012
Background: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Jean Bennett, Francesca Simonelli, Simonelli Francesca, BENNETT J, Testa, Francesco, Francesco Testa, Paolo Melillo, Leandro Pecchia, Rossi, Settimio, Pecchia Leandro, Testa Francesco, Bennett, Jean, M.D., Pecchia, Leandro, PECCHIA L, Melillo, Paolo, Settimio Rossi, Simonelli, Francesca, Bennett Jean, Rossi Settimio   +19 more
core   +1 more source

Congenital scoliosis [PDF]

European Spine Journal, 2003
Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord,
V, Arlet, Th, Odent, M, Aebi
openaire   +2 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

RNA sequencing of archived neonatal dried blood spots

Molecular Genetics and Metabolism Reports, 2017
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °
Jonas Bybjerg-Grauholm, Christian Munch Hagen, Sok Kean Khoo, Maria Louise Johannesen, Christine Søholm Hansen, Marie Bækvad-Hansen, Michael Christiansen, David Michael Hougaard, Mads V. Hollegaard   +8 more
doaj   +1 more source

Pulse oximetry screening for clinically unrecognized critical congenital heart disease in the newborns [PDF]

, 2007
The aim of this article is to determine the incidence of clinically unrecognized critical congenital heart disease (CCHD) in the newborns by using pulse oximetric screening.peer ...
Pongpanich, Boonchab, Bunjapamai, W., Ruangritnamcha, Chatree   +2 more
core  

Passive immunization during pregnancy for congenital cytomegalovirus infection

, 2005
BACKGROUND: Currently, there is no effective intervention for a primary cytomegalovirus (CMV) infection during pregnancy. METHODS: We studied pregnant women with a primary CMV infection.
Giuseppe Gentile, Congenital Cytomegalovirus Collaborating Group, Al M. Best, Giovanni Nigro, Stuart P. Adler, Renato La Torre   +5 more
core   +1 more source