Results 81 to 90 of about 6,938,733 (312)

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

Outcomes Attributable to Neonatal Candidiasis [PDF]

Clinical Infectious Diseases, 2007
The incidence of candidiasis has increased in neonatal intensive care units, and invasive candidiasis is associated with significant morbidity and mortality. However, few data exist on outcomes directly attributable to neonatal candidiasis.We estimated the incidence of systemic candidiasis in hospitalized neonates within the United States and ...
Theoklis E, Zaoutis, Kateri, Heydon, Russell, Localio, Thomas J, Walsh, Chris, Feudtner   +4 more
openaire   +2 more sources

Association of Adult Congenital Heart Disease With Pregnancy, Maternal, and Neonatal Outcomes

JAMA Network Open, 2019
Key Points Question Do pregnancy, maternal, and neonatal outcomes differ in women with different types of adult congenital heart disease? Findings In this large cross-sectional study of 2114 women with adult congenital heart disease in Canada, maternal ...
K. Ramage, Kirsten Grabowska, C. Silversides, H. Quan, A. Metcalfe   +4 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

Maternal and fetal outcomes among pregnant women with endometriosis

Journal of Perinatal Medicine
Endometriosis, a condition in which endometrial-like tissue grows outside of the uterus, is a common disorder among women of reproductive-age. The objective of the study is to examine the associations between endometriosis in pregnancy and adverse ...
Abdessamie Sara, Czuzoj-Shulman Nicholas, Abenhaim Haim Arie   +2 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Exposures to chemical mixtures during pregnancy and neonatal outcomes: The HOME study.

Environment International, 2019
INTRODUCTION Exposure to mixtures of environmental chemicals are prevalent among pregnant women and may be associated with altered fetal growth and gestational age.
G. Kalloo, G. Wellenius, L. McCandless, A. Calafat, A. Sjodin, Megan E. Romano, M. Karagas, Aimin Chen, K. Yolton, B. Lanphear, J. Braun   +10 more
semanticscholar   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Effect of continuity of team midwifery care on maternal and neonatal outcomes: a quasi-experimental study in Iran

Scientific Reports
Midwife-led continuity of care models have been linked to better clinical outcomes in certain developed countries. However, there is a paucity of research on these models in developing nations.
Sholeh Shahinfar, Parvin Abedi, Mahin Najafian, Zahra Abbaspoor, Eesa Mohammadi, Narges Alianmoghaddam, Elham Maraghi   +6 more
doaj   +1 more source

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