Results 71 to 80 of about 1,606,043 (303)

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

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015–2023

Sweden has one neonatal screening laboratory and two centers conducting diagnostic workup for inborn errors of metabolism (IEM). Next-generation sequencing (NGS) has been gradually introduced as a confirmatory diagnostic test in the Swedish newborn ...
Rolf H. Zetterström, Anna Wredenberg, Michela Barbaro, Lene Sörensen, Helene Bruhn, Martin Engvall, Nicole Lesko, Jorge Asin-Cayuela, Karin Naess, Malin Ueberschär, Fredrik H. Sterky, Mikael Oscarson, Anna Wedell, Yan Shen, Engvall, Martin, Wedell, Anna, Shen, Yan, Ueberschar, M, Engvall, M,, Bruhn, Helene, Sterky, Fredrik,, Barbaro, M,, Asin-Cayuela, J, Zetterstrom, Rolf H., Oscarson, M,, Shen, Y, Bruhn, H,, Oscarson, Mikael, Sorensen, L, Wredenberg, Anna, Lesko, N,, Lesko, Nicole, Ueberschar, Malin, Barbaro, Michela, Cayuela, Jorge,, Naess, Karin, Sorensen, Lene, Naess, K   +37 more
core   +1 more source

AWARENESS OF PARENTS REGARDING NEONATAL SCREENING [PDF]

, 2023
According to the World Health Organization, screening refers to the systematic application of research to identify patients at risk of developing a specific disease.
Ilieva, Slavena; Medical University “Prof. Dr. P. Stoyanov” Varna, Dimitrova, Valya; Medical University “Prof. Dr. P. Stoyanov” Varna   +1 more
core  

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience

, 2022
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Pippa Grainger, Detlef Knoll, Grainger, Pippa, de Hora, Mark, Shannon Brothers, Dianne Webster, Webster, Dianne, Mark de Hora, Heather, Natasha, Knoll, Detlef, Brothers, Shannon, Natasha Heather   +11 more
core   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Newborn Screening—A Worldwide Endeavour to Protect

For more than 60 years, newborn (or neonatal) screening has flourished through global collaboration, demonstrating that collective action is key to success.
Schielen, Peter C J I, James R. Bonham, Bonham, James R, Habib, Aysha, Khan, Aysha Habib, Amy Gaviglio, Dianne Webster, Webster, Dianne, Gaviglio, Amy, Aysha Habib Khan, Peter C. J. I. Schielen, Howell, R Rodney, R. Rodney Howell   +12 more
core   +1 more source

Neonatal Screening for Critical Congenital Heart Defects [PDF]

, 2019
Critical congenital heart defects (CCHDs) are potentially life-threatening malformations that remain a significant cause of neonatal mortality and morbidity.
Ewer, Andrew
core   +1 more source