Results 81 to 90 of about 372,911 (292)

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

Access via the internal jugular vein [PDF]

, 2008
Central venous access via the internal jugular vein (IJV) is safe, relatively easy and very commonly used in infants and children undergoing cardiac surgery for congenital heart disease. Because of the wide range of anatomical variations an ultrasound-
Kruessell, Markus, Sreeram, Narayanswami, Trieschmann, U., Udink ten Cate, Floris   +3 more
core  

Re-examination of Oostenbroek et al. (2016): evidence for neonatal imitation of tongue protrusion [PDF]

, 2017
The meaning, mechanism, and function of imitation in early infancy have been actively discussed since Meltzoff and Moore's (1977) report of facial and manual imitation by human neonates. Oostenbroek et al. (2016) claim to challenge the existence of early
Anisfeld, Aslin, Brazelton, Cohen, Coulon, Farroni, Ferrari, Heimann, Hofsten, Hofsten, Hofsten, Kent, Lieberman, Marshall, Marshall, Meltzoff, Meltzoff, Meltzoff, Meltzoff, Meltzoff, Meltzoff, Meltzoff, Messinger, Murray, Nagy, Nagy, Oostenbroek, Piaget, Previc, Ruff, Simpson, Simpson, Soussignan, Tronick, Valenza   +34 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

Cerebral function monitoring in term or near term neonates at MDH : preliminary experience and proposal of a guideline [PDF]

, 2012
Introduction: Cerebral function monitoring (CFM) is a simplified EEG device that is used to monitor cerebral function at the cot-side. Various studies have shown its value in detecting neonatal encephalopathy and electrographic seizures, prognostication ...
Attard, Stephen, Soler, Doriette, Soler, Paul   +2 more
core  

Prolonged transition time between colostrum and mature milk in a bear, the giant panda, Ailuropoda melanoleuca [PDF]

, 2015
Bears produce the most altricial neonates of any placental mammal. We hypothesized that the transition from colostrum to mature milk in bears reflects a temporal and biochemical adaptation for altricial development and immune protection.
Burchmore, Richard J. S., Griffiths, Kate, Hou, Rong, Kennedy, Malcolm W., Loeffler, I. Kati, Wang, Hairui, Watson, David G., Zhang, Liang, Zhang, Tong, Zhang, Zhihe   +9 more
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

How to Early Identify and Prevent the SARS-CoV-2 Infection in Children for Families?

Frontiers in Pediatrics, 2020
Importance: COVID-19 has become a worldwide pandemic. Many countries have reported cases of infection in children and newborns, and there is a trend of significantly increasing infections among these populations.
Meng-Yuan Qiao, Na Chen, Xian Zou, Xian Zou, Dan-Hua Mao, Dan-Hua Mao, Hong-Tao Cui, Wei-Bin Li, Jing-Kun Miao, Qi-Xiong Chen, Qi-Xiong Chen   +10 more
doaj   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Accepted Article.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among long‐term HCQ users with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain OCT (SD‐OCT) for screening. Methods A systematic search of PubMed, Scopus,
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

Effect of Umbilical Cord Entanglement and Position on Pregnancy Outcomes

Obstetrics and Gynecology International, 2015
Introduction. To investigate the effect of complex umbilical cord entanglement primarily around the trunk on pregnancy outcomes. Methods. We studied 6307 pregnant women with singleton pregnancies who underwent vaginal delivery of an infant at ≥37 weeks ...
Natsuko Kobayashi, Shigeru Aoki, Mari S. Oba, Tsuneo Takahashi, Fumiki Hirahara   +4 more
doaj   +1 more source