Results 61 to 70 of about 148,879 (306)

Reduced glutathione and glutathione disulfide in the blood of glucose-6-phosphate dehydrogenase-deficient newborns

BMC Pediatrics, 2017
Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) using tandem mass spectrometry (MS/
Zhen-hua Gong, Guo-li Tian, Qi-wei Huang, Yan-min Wang, Hong-ping Xu   +4 more
doaj   +1 more source

Screening for Neonatal Jaundice with a Smartphone [PDF]

Proceedings of the 2017 International Conference on Digital Health, 2017
A method to screen for jaundice in neonates using a digital image of the sclera is proposed. The RGB pixel values from a raw format image are used to derive an estimate for the total serum bilirubin (TSB).
Felix Outlaw, Judith Meek, Lindsay W. MacDonald, Terence S. Leung   +3 more
openaire   +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

Effect of case management on neonatal mortality due to sepsis and pneumonia. [PDF]

, 2011
BACKGROUND: Each year almost one million newborns die from infections, mostly in low-income countries. Timely case management would save many lives but the relative mortality effect of varying strategies is unknown.
Bhutta Zulfiqar A, Zulfiqar A Bhutta, Zaidi, Anita K. M., Ganatra, Hammad A, Ganatra Hammad A, Lawn, Joy E, Lawn, Joy E., Lawn Joy E, Joy E Lawn, Cousens Simon, Syed, Sana, Robert Black, Simon Cousens, Zaidi Anita K M, Lee, Anne CC, Black, Robert, Lee Anne CC, Ganatra, Hammad A., Cousens, Simon, Sana Syed, Zaidi, Anita KM, Bhutta, Zulfiqar A, Hammad A Ganatra, Black Robert, Anita K M Zaidi, Bhutta, Zulfiqar A., Anne CC Lee, Lee, Anne C. C., Syed Sana   +28 more
core   +1 more source

Cystic fibrosis and neonatal screening [PDF]

Cadernos de Saúde Pública, 2008
The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages.
Rodrigues, Roberta, Gabetta, Carmen S., Pedro, Karla P., Valdetaro, Fabio, Fernandes, Maria I. M., Magalhães, Patrícia K. R., Januário, José N., Maciel, Léa M. Z.   +7 more
openaire   +4 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

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand [PDF]

, 2020
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an ...
Tejal Patel, Hofman, Paul L, Heather, Natasha L, Lauren G. Bresnahan, Bresnahan, Lauren G, Paul L. Hofman, Mark R. de Hora, Dianne Webster, Webster, Dianne, Patel, Tejal, de Hora, Mark R, Natasha L. Heather   +11 more
core   +1 more source

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

Maternal pre-pregnancy and prenatal penicillin, neonatal inflammation and growth factors are associated to ADHD in the offspring

Brain, Behavior, & Immunity - Health
Background: The etiology for Attention Deficit Hyperactivity Disorder (ADHD) is generally unknown, but both genetics, biology and environment have been shown to increase the risk.
Solveig Holmgaard, Pia Kiilerich, Nis Borbye-Lorenzen, Kristin Skogstrand   +3 more
doaj   +1 more source