Results 61 to 70 of about 1,240,539 (312)

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

A retrospective audit of neonatal BCG vaccination in Grampian, Scotland

Human Vaccines & Immunotherapeutics, 2023
Bacillus Calmette–Guerin (BCG) vaccine confers protection against tuberculosis (TB) and works most effectively when given to infants. Scotland runs a risk-based program in which BCG vaccine is offered to infants whose parent or grandparent was born in a ...
Saba Savul, Susan Duthie
doaj   +1 more source

Neonatal morbidities and developmental delay in moderately preterm-born children [PDF]

, 2012
BACKGROUND AND OBJECTIVE: Children born moderately preterm (32-35(6/7) weeks' gestation) are at increased risk of both neonatal morbidities and developmental delays in early childhood.
Bocca-Tjeertes, I.F., Bos, A.F., de Winter, A.F., Kerstjens, J.M., Reijneveld, S.A.   +4 more
core   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mesenchymal Stem Cell Derived Exosomes Alleviates Hirschsprung-Associated Enterocolitis by Inhibiting AKT Phosphorylation in Macrophages Through miR-223

Stem Cells International
Conclusion: Macrophages accumulate in colonic tissues during HAEC and inflammatory macrophages drive enterocyte death. MSCs derived exosomes reduce enterocyte death by suppressing AKT phosphorylation and IL-1β secretion via miR-223, and subsequently ...
Haosen Ji, Zheming Xu, Leiting Shen, Sisi Yang, Jingyi Jin, Chengjie Lyu, Yichao Ren, Yi Xiao, Yuebai Zhang, Shu Fang, Xiaoxia Zhao, Xiang Yan, Dengming Lai, Jinfa Tou   +13 more
doaj   +1 more source

A Rare Case of Fungaemia Due to Kodamaea ohmeri in a Neonate

Online Journal of Health & Allied Sciences, 2023
Background: K. ohmeri is seen predominantly in cutaneous, endocarditis, fungemia and catheter-related bloodstream infections. Neonates are predisposed to systemic fungal infections due to prematurity, immunocompromised state, invasive procedures ...
Asem Ali Ashraf, Vimal Kumar Karnaker, Sreelatha Shankaran Veetil, Sharika Ramdas, Sanjana Nair, Sudhir Rama Varma   +5 more
doaj  

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Combination of Pirfenidone and Andrographolide Ameliorates Hepatic Stellate Cell Activation and Liver Fibrosis by Mediating TGF-β/Smad Signaling Pathway

Analytical Cellular Pathology
Background. Biliary atresia (BA) is a devastating congenital disease characterized by inflammation and progressive liver fibrosis. Activation of hepatic stellate cells (HSCs) plays a central role in the pathogenesis of hepatic fibrosis.
Guang Xu, Tidong Ma, Chonggao Zhou, Fan Zhao, Kun Peng, Bixiang Li   +5 more
doaj   +1 more source

Expertise and the interpretation of computerized physiological data: implications for the design of computerized monitoring in neonatal intensive care [PDF]

, 2001
This paper presents the outcomes from a cognitive engineering project addressing the design problems of computerized monitoring in neonatal intensive care.
ALBERDI, ALBERDI, ALBERDI, ANDY LYON, AZEVEDO, BARNARD, BOSHUIZEN, CARD, CARROLL, CHASE, CHI, CLAESSEN, COIERA, COIERA, COIERA, CUNNINGHAM, CUNNINGHAM, DEERE, EDWORTHY, EGAN, ELSTEIN, ELSTEIN, ERICSSON, ERICSSON, ERICSSON, ERICSSON, EUGENIO ALBERDI, FELTOVICH, FELTOVICH, GILHOOLY, GILHOOLY, GRAY, GREEN, GREEN, GREMY, HAIMOWITZ, JAN REISS, JIM HUNTER, JOSEPH, JULIE-CLARE BECHER, KEN GILHOOLY, LANDAUER, LARKIN, LARKIN, LEMIEUX, LESGOLD, LESGOLD, LOGIE, LONG, LONG, MCINTOSH, MORGAN, NEIL MCINTOSH, NENOV, NORMAN, PATEL, PATEL, PATEL, PATEL, PATEL, ROBERT LOGIE, SALATIAN, SCHMIDT, SCHMIDT, TABOADA, WICKENS   +65 more
core   +1 more source