Results 21 to 30 of about 524,540 (290)

SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

Journal of Inborn Errors of Metabolism and Screening, 2016
The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ...
Ernesto Carlos González Reyes PhD, Elisa M. Castells MSc, Amarilys Frómeta MSc, Ana Luisa Arteaga MD, Lesley Del Río MSc, Yileidis Tejeda MSc, Pedro L. Pérez LT, Mary Triny Segura BSc, Pedro Almenares MSc, Yenitse Perea MSc, Niurka M. Carlos MSc, René Robaina MD, PhD, José L. Fernández-Yero MD, PhD   +12 more
doaj   +1 more source

Cranial Ultrasound Abnormalities in Small for Gestational Age or Growth-Restricted Infants Born over 32 Weeks Gestation: A Systematic Review and Meta-Analysis

Brain Sciences, 2022
Aim: To perform a systematic review and meta-analysis of existing literature to evaluate the incidence of cranial ultrasound abnormalities (CUAs) amongst moderate to late preterm (MLPT) and term infants, affected by fetal growth restriction (FGR) or ...
Charlene Roufaeil, Abdul Razak, Atul Malhotra   +2 more
doaj   +1 more source

Early Check: translational science at the intersection of public health and newborn screening

BMC Pediatrics, 2019
Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ...
Donald B. Bailey, Lisa M. Gehtland, Megan A. Lewis, Holly Peay, Melissa Raspa, Scott M. Shone, Jennifer L. Taylor, Anne C. Wheeler, Michael Cotten, Nancy M. P. King, Cynthia M. Powell, Barbara Biesecker, Christine E. Bishop, Beth Lincoln Boyea, Martin Duparc, Blake A. Harper, Alex R. Kemper, Stacey N. Lee, Rebecca Moultrie, Katherine C. Okoniewski, Ryan S. Paquin, Denise Pettit, Katherine Ackerman Porter, Scott J. Zimmerman   +23 more
doaj   +1 more source

How women's experiences and perceptions of care influence uptake of postnatal care across sub-Saharan Africa: a qualitative systematic review

BMC Pregnancy and Childbirth, 2021
Background The burden of maternal and neonatal morbidity and mortality is a global health concern with the highest burden documented after childbirth in women and babies living in sub-Saharan Africa.
Caitlin Lythgoe, Kirsty Lowe, Mary McCauley, Hannah McCauley   +3 more
doaj   +1 more source

Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study

BMC Pediatrics, 2022
Background Osteogenesis imperfecta (OI) causes a number of abnormalities in somatic development. The predominant symptoms are reduced bone mass and an increased risk of fractures as well as bone deformities and short stature.
E. Jakubowska-Pietkiewicz, A. Maćkowska, J. Nowicki, E. Woźniak, Nowicki Jakub   +4 more
doaj   +1 more source

Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines

International Journal of Neonatal Screening, 2021
The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions.
Carmencita D. Padilla, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Reynaldo C. de Castro, Maria Beatriz P. Gepte, Ma. Elouisa L. Reyes, Charity M. Jomento, Riza Concordia N. Suarez, Ebner Bon G. Maceda, Conchita G. Abarquez, J. Edgar Winston C. Posecion, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, Carolyn C. Hoppe   +15 more
doaj   +1 more source

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results

International Journal of Neonatal Screening, 2022
A national protocol for structured follow-up and texting of repeat newborn bloodspot screening (NBS) sample requests was introduced. Repeat samples are needed where the initial sample is inadequate or the result borderline-positive.
Natasha Heather, Lisa Morgan, Detlef Knoll, Keith Shore, Mark de Hora, Dianne Webster   +5 more
doaj   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source