Results 121 to 130 of about 1,922,511 (410)

American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs

International Journal of Neonatal Screening
The American College of Medical Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional Genetics Networks (NCC)-developed ACT sheets are a vital resource for state newborn screening (NBS) programs. They allow NBS programs to be
Virginia Sack, Sara Etienne, Grace Beal, Sarah Bradley, Michele Caggana   +4 more
doaj   +1 more source

Modelling costs and outcomes of newborn hearing screening: The economic part of a German health technology assessment project [PDF]

The prevalence of newborn hearing disorders is 1-3 per 1000. Crucial for later outcome are correct diagnosis and effective treatment in the first year of life. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening
Grill, Eva, Hessel, Franz, Schnell-Inderst, Petra, Wasem, Jürgen   +3 more
core  

Versatile Silicon‐Based Surface‐Enhanced Raman Spectroscopy Chip for Quantitative Sensing and Point‐of‐Care Applications

Advanced Materials Interfaces, EarlyView.
This study fabricates highly sensitive, uniform SERS substrates scalable to wafer level. The dual‐function substrates integrate high‐density hot spots and spectral references for accurate quantitative detection, achieving 10⁻¹2 M BPE sensitivity (<5% deviation). Their application in monitoring urinary caffeine citrate for preterm infant apnea treatment
Yuanhao Jin, Ji Wang, Lijuan Lin, Haitao Yang, Lihui Zhang, Shoushan Fan, Qunqing Li, Feng Xu   +7 more
wiley   +1 more source

Translating Molecular Technologies into Routine Newborn Screening Practice

International Journal of Neonatal Screening, 2020
As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel.
Sarah M. Furnier, M. Durkin, M. Baker
semanticscholar   +1 more source

Implantable Microarray Patch: Engineering at the Nano and Macro Scale for Sustained Therapeutic Release via Synthetic Biodegradable Polymers

Advanced Materials Technologies, Volume 10, Issue 6, March 18, 2025.
This review focuses on the application of synthetic biodegradable microarray patches (MAPs) in sustained drug delivery. Compared to conventional MAPs which release drugs into the skin in an immediate manner, these implantable MAPs release drugs into skin microcirculation gradually as the biodegradable polymers degrade, thus offering sustained release ...
Li Zhao, Akmal Hidayat Bin Sabri, Mary B. McGuckin, Linlin Li, Zihao Wang, Eneko Larrañeta, Ryan F. Donnelly   +6 more
wiley   +1 more source

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

Challenges in the management of Phenylketonuria in Malta [PDF]

, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core  

Implantable, Label‐Free NIR‐Based Porous Silicon Biosensor for Monitoring Biomarkers in Interstitial Fluid

Advanced Sensor Research, EarlyView.
Implantable biosensors hold the promise to revolutionize the way disease diagnosis and progression during treatment are viewed. However, in the current state of art, their efficiency is limited by certain material challenges. Porous Silicon (pSi) is a viable material for in vivo monitoring of biomarkers, and its potential as an implantable biosensor is
Pritam Sharma, Jann Harberts, Raquel Sánchez‐Salcedo, Pouya Dehghankelishadi, Nicolas Hans Voelcker   +4 more
wiley   +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources