Results 51 to 60 of about 404,820 (269)

School-age outcomes among IVF and ICSI-conceived children: a causal inference analysis using linked population-wide data

BMC Medicine
Background Use of intracytoplasmic sperm injection (ICSI) continues to increase as the most common mode of oocyte insemination during in vitro fertilisation (IVF), sometimes in the absence of clear indications (i.e. male factor infertility).
Amber L. Kennedy, Richard J. Hiscock, Beverley J. Vollenhoven, Catharyn J. Stern, Lyle C. Gurrin, Tiki Osianlis, Aleah Kink, Susan P. Walker, Jeanie L. Y. Cheong, Jon L. Quach, David Wilkinson, John McBain, Mark P. Green, Jessica A. Atkinson, Franca Agresta, Susan P. Baohm, Stephen Tong, Roxanne Hastie, Anthea C. Lindquist   +18 more
doaj   +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

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

Philippine Journal of Pathology, 2018
Objective. The study was undertaken to determine if commercially bottled purified water can be used as substitute instrument feed water for three (3) newborn screening immunoassays. Methdology.
Emilio Villanueva III, Roel Martin Bumalay, John Michael Rivera   +2 more
doaj  

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

Mapping the global implementation of parent-focused infant-centred and family-centred developmental care (IFCDC) principles: a scoping review protocol

BMJ Open
Introduction and objectives Infant-centred and family-centred developmental care (IFCDC) within the frame of special intensive care prioritises a holistic approach to caring for infants by addressing their developmental and emotional needs.
Helmut Hummler, Julia Hoffmann, Silke Mader, Ayse Düzenli, Ruth Kemper, Julia Grüger, Christina Tischer   +6 more
doaj   +1 more source

“We are the ones who should make the decision” – knowledge and understanding of the rights-based approach to maternity care among women and healthcare providers

BMC Pregnancy and Childbirth, 2019
Background Experiences and perceptions of poor quality of care is a powerful determinant of utilisation of maternity services. With many reports of disrespect and abuse in healthcare facilities in low-resource settings, women’s and healthcare providers ...
Yasmin Jolly, Mamuda Aminu, Florence Mgawadere, Nynke van den Broek   +3 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

Patient reported outcome measures for use in pregnancy and childbirth: a systematic review

BMC Pregnancy and Childbirth, 2019
Background Globally, an increasing number of women give birth in a healthcare facility. Improvement in the quality of care is crucial if preventable maternal mortality and morbidity are to be reduced. A Patient Reported Outcome Measure (PROM) can be used
Fiona Dickinson, Mary McCauley, Helen Smith, Nynke van den Broek   +3 more
doaj   +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

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