Results 91 to 100 of about 3,396,540 (313)

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

International Journal of Neonatal Screening, 2020
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with ...
V. Scotet, Hector H. Gutierrez, P. Farrell   +2 more
semanticscholar   +1 more source

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

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

, 2009
OBJECTIVE: Our goal was to describe the clinical spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by routine newborn screening and assess factors associated with elevations of octanoylcarnitine in newborns and characteristics ...
Grady, George F., Hsu, Ho-Wen, Strauss, Arnold W., Zytkovicz, Thomas H., Comeau, Anne Marie, Marsden, Deborah, Shih, Vivian E., Eaton, Roger B.   +7 more
core   +1 more source

Epidemiological characteristics of congenital hypothyroidism and risk factors for permanent congenital hypothyroidism in Gansu, China

BMC Pediatrics
Background Congenital hypothyroidism (CH) is a major endocrine disorder affecting newborn development, and early differentiation between transient CH (T-CH) and permanent CH (P–CH) is essential for individualized management.
Juanjuan Hu, Xiujing Li, Jia Wang, Jie Li, Yangyang Shi, Yanling Chen, Yanjun Dou, Chaohong Da, Yanjie Su, Weikai Wang   +9 more
doaj   +1 more source

Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study

The Lancet Haematology, 2020
Summary Background Sickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care ...
O. Nnodu, A. Sopekan, U. Nnebe-Agumadu, C. Ohiaeri, A. Adeniran, G. Shedul, H. Isa, O. Owolabi, R. Chianumba, Yohanna Tanko, Juliet H Iyobosa, A. Adekile, O. Olapade, F. Piel   +13 more
semanticscholar   +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

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Journal of Neuromuscular Diseases, 2020
In early 2018, Cure SMA convened a group of expert clinicians and scientists to develop a treatment algorithm using a reiterative surveying modified Delphi technique for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS ...
J. Glascock, J. Sampson, A. Connolly, B. Darras, J. Day, R. Finkel, R. Howell, Katherine W. Klinger, N. Kuntz, T. Prior, P. Shieh, T. Crawford, D. Kerr, J. Jarecki   +13 more
semanticscholar   +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

Building a Newborn Screening Information Management System from Theory to Practice

International Journal of Neonatal Screening, 2019
Information Management Systems are the central process management and communication hub for many newborn screening programs. In late 2014, Newborn Screening Ontario (NSO) undertook an end to end assessment of its information management needs which ...
Michael Pluscauskas, Matthew Henderson, Jennifer Milburn, Pranesh Chakraborty   +3 more
doaj   +1 more source

It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance

International Journal of Neonatal Screening, 2020
Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted.
Natasha Heather, Dianne Webster
doaj   +1 more source