Results 71 to 80 of about 1,223,979 (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

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

Evaluation of glycerin suppository in prevention of neonatal jaundice in Besat Hospital in 2016-2017 [PDF]

مجله علمی دانشگاه علوم پزشکی کردستان, 2019
Background and Aim: Neonatal jaundice is a common problem in the neonates which is caused by increased unconjugated bilirubin and can result in serious neurological side effects such as kerinictrus.
Mansouri M, Nouri B, Iri R
doaj  

Improving quality of care and outcome at very preterm birth: the Preterm Birth research programme, including the Cord pilot RCT [PDF]

, 2019
BACKGROUND:Being born very premature (i.e. before 32 weeks’ gestation) has an impact on survival and quality of life. Improving care at birth may improve outcomes and parents’ experiences.
Aarnoudse-Moens, Abraham, Aladangady, Anderson, Armstrong-Buisseret, Arnold, Batey, Bayley, Becker, Beveridge, Bhatt, Bhutta, Bick, Blank, Boere, Bonetti, Bradshaw, Bradshaw, Bradshaw, Brodbeck, Buckley, Cacioppo, Caldwell, Centre for Reviews and Dissemination (CRD), Chalmers, Chalmers, Chalmers, Chalmers, Chhoa, Cialdini, Cochrane Library, Collins, Committee on Obstetric Practice, Coverdale, Cowan, Critchell, Crowe, Dawes, de Melo-Martín, Department of Health and Social Care, Dorling, Droste, Duley, Duley, Duley, Eclampsia Trial Collaborative Group, Eleftheriadou, Faden, Fangerau, Farrar, Farrar, Farrell, Goldenberg, Grein, Gunther, Halliday, Hammersley, Hofmeyr, Hooper, Hooper, Hosono, Hutchon, Hutchon, James Lind Alliance, Jonsdottir, Keller, Lloyd, Lophatananon, Maclean, Manson, Mason, Mason, McCall, Megone, Mercer, Michels, Moe-Byrne, Moser, Murphy, National Institute for Health and Care Excellence (NICE), Neilson, Nishimura, Oddie, O’Donnell, O’Donnell, Papile, Partridge, Perlman, Petrou, Petty, Pfister, Pfister, Polglase, Popovich, Pushpa-Rajah, Pushpa-Rajah, Rabe, Rabe, Rabe, Redshaw, Reynolds, Richmond, Rojas-Reyes, Russell, Saigal, Saigal, Sajadi, Sandin-Bojö, Sawyer, Sawyer, Sawyer, Sawyer, Sawyer, Schenker, Schmidt, Schmidt, Schmölzer, Schoonakker, Shaw, Shea, Siegel, Simkin, Singh, Sloan, Snowdon, Soll, Soll, Soll, Sprigg, Squires, Stevens, Strech, Tan, Tarnow-Mordi, Tarnow-Mordi, Tarnow-Mordi, Te Pas, The James Lind Alliance, Thomas, Thomas, Tong, Treweek, Tuckman, Tuckman, Tyndale-Biscoe, van Teijlingen, Vijayaselvi, Weeks, Wilman, Woolfall, Wyllie, Wyllie, Yoxall, Zeitlin, Zigmond, Ziino   +155 more
core   +3 more sources

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

Ventilatory Support, Extubation, and Cerebral Perfusion Changes in Pre-Term Neonates: A Near Infrared Spectroscopy Study

Neurotrauma Reports
Early extubation is considered to be beneficial for pre-term neonates. On the other hand, premature extubation can cause lung derecruitment, compromised gas exchange, and need for reintubation, which may be associated with severe brain injury caused by ...
Paolo Massirio, Valentina Cardiello, Chiara Andreato, Samuele Caruggi, Marcella Battaglini, Andrea Calandrino, Giulia Polleri, Federica Mongelli, Mariya Malova, Diego Minghetti, Alessandro Parodi, Maria Grazia Calevo, Domenico Tortora, Andrea Rossi, Luca Antonio Ramenghi   +14 more
doaj   +1 more source

Neonatal Seizure Detection using Convolutional Neural Networks [PDF]

, 2017
This study presents a novel end-to-end architecture that learns hierarchical representations from raw EEG data using fully convolutional deep neural networks for the task of neonatal seizure detection.
Boylan, Geraldine, Lightbody, Gordon, O'Shea, Alison, Temko, Andriy   +3 more
core   +1 more source

Real‐world Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, Accepted Article.
Objectives Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), yet the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to: 1) identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel MPH, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Helping small babies survive: an evaluation of facility-based Kangaroo Mother Care implementation progress in Uganda

The Pan African Medical Journal, 2014
INTRODUCTION: Prematurity is the leading cause of newborn death in Uganda, accounting for 38% of the nation's 39,000 annual newborn deaths. Kangaroo mother care is a high-impact; cost-effective intervention that has been prioritized in policy in Uganda ...
Patrick Aliganyira, Kate Kerber, Karen Davy, Nathalie Gamache, Namaala Hanifah Sengendo, Anne-Marie Bergh   +5 more
doaj   +1 more source

Characterization of porcine endogenous retrovirus expression in neonatal and adult pig pancreatic islets [PDF]

, 2017
BACKGROUND: Pig islets represent an alternative to the current modes of treatment for patients with diabetes. However, the concerns over pathogen transmission including that of PERV limit their immediate, widespread usage in humans.
Akiyoshi, Bittmann, Claire Crossan, Clemenceau, Clemenceau, Cooper, Denner, Denner, Denner, Dieckhoff, Fishman, Gazda, Guo, Irgang, Kimsa, Korbutt, Linda Scobie, Matsumoto, Mazurek, Moon, Morozov, Mourad, Mueller, Nizar I. Mourad, Patience, Pierre Gianello, Pizzato, Schuurman, Scobie, Spizzo, Sypniewski, Tacke, Tucker, Victoria Cruikshank, Wynyard, Wynyard, Zhang   +36 more
core   +1 more source