Results 71 to 80 of about 217,992 (277)

CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage.
Francis K. Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert Vogt, Rachel Lee, Carla Cuthbert, Suzanne Cordovado   +8 more
doaj   +1 more source

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

Journal of Inborn Errors of Metabolism and Screening, 2016
The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm.
Sara Poggiali BSc, MT, Daniela Ombrone BSc, Giulia Forni BSc, Sabrina Malvagia BSc, Silvia Funghini BSc, PhD, Massimo Mura Pharm Sc, Elisabetta Pasquini MD, Laura Santoro BSc, Vincenzo Bellavia BSc, Orazia Maria Granata BSc, Cinzia Castana MD, Kathleen S. McGreevy PhD, Tommaso Silvano Aronica MD, Giancarlo la Marca Pharm Sc   +13 more
doaj   +1 more source

A Bespoke Programmable Interpenetrating Elastomer Network Composite Laryngeal Stent for Expedited Paediatric Laryngotracheal Reconstruction

Advanced Functional Materials, EarlyView.
A programmable interpenetrating double‐network architecture, created via 3D‐TIPS printing and resin infusion, synergistically combines thermoplastic and thermosetting elastomers to balance structural rigidity and surface softness—crucial for paediatric laryngeal stents.
Elizabeth F. Maughan, Lei Wu, Dong Zhang, Linxiao Wu, Graca Ferreira Vaz Pinto Mendes, Wanqiao J. Tu, Heping Ma, Toby J. Proctor, Colin R. Butler, Thomas Kjærgaard, Mark W. Lowdell, Martin A. Birchall, Robert E. Hynds, Richard Hewitt, Wenhui Song   +14 more
wiley   +1 more source

Essential of audiology: screening and postscreening [PDF]

, 2014
Newborn hearing screening is a type of screening test for the early detection of hearing loss. It can recognize with good accuracy newborns affected by hearing impairment allowing an early diagnosis and intervention and avoiding cognitive and ...
Cocuzza, S, La Mattina, E, Martinelli, S, MARTINES, Enrico, MARTINES, Francesco, MUCIA, Marianna, SALVAGO, Pietro   +6 more
core   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience

International Journal of Neonatal Screening
This study was designed to assess the effectiveness of neonatal congenital adrenal hyperplasia (CAH) screening in Guangzhou, China. A total of 818,417 newborns were screened for CAH by measuring 17-hydroxyprogesterone (17-OHP) concentrations.
Xuefang Jia, Ting Xie, Xiang Jiang, Fang Tang, Minyi Tan, Qianyu Chen, Sichi Liu, Yonglan Huang, Li Tao   +8 more
doaj   +1 more source

Electroactive Liquid Crystal Elastomers as Soft Actuators

Advanced Functional Materials, EarlyView.
Electroactive liquid crystal elastomers (eLCEs) can be actuated via electromechanical, electrochemical, or electrothermal effects. a) Electromechanical effects include Maxwell stress, electrostriction, and the electroclinic effect. b) Electrochemical effects arise from electrode redox reactions.
Yakui Deng, Min‐Hui Li
wiley   +1 more source

Microfluidic Platform for Multiparametric Profiling of Fibrin Permeability, Fibrinolysis, and Cell Invasion

Advanced Functional Materials, EarlyView.
This paper introduces a single‐channel H‐junction microfluidic assay that profiles fibrin's evolving function in repair and thrombosis by measuring, in one ∼3 µL gel, permeability, fibrinolysis kinetics, fibroblast invasion, and clot extension in real time.
Halston Deal, Elizabeth M. Byrnes, Sanika Pandit, Halle J. Cantor, Muskan Aslam, Stacy Ban, Megan Palmisano, Rosemary Bayless, Ashley C. Brown, Michael Daniele   +9 more
wiley   +1 more source

Improving Communication between Doctors and Parents after Newborn Screening [PDF]

, 2011
Background: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications.
Christopher, Stephanie, Collins, Jenelle, Eskra, Kerry, Farrell, Michael, Farrell, Philip M., Hoffman, Gary, Kennedy-Parker, Karen, La Pean, Alison, Panepinto, Julie, Tluczek, Audrey   +9 more
core   +2 more sources

Information provision reduces parental anxiety [PDF]

, 2017
Parents find the delivery of positive newborn screening results distressing, in large part due to information provision at time of screening and when the results are communicated to them ( Buchbinder and Timmermans 2012 , Salm et al 2012 , Chudleigh et ...
Chudleigh, J. H.
core   +1 more source

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC–MS/MS analysis

Data in Brief, 2018
This article provides supplementary data for the paper “LC–MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization” (Forni et al., 2018).
Giulia Forni, Sabrina Malvagia, Silvia Funghini, Emanuela Scolamiero, Massimo Mura, Maria Della Bona, Fabio Villanelli, Roberta Damiano, Giancarlo la Marca   +8 more
doaj   +1 more source