Results 141 to 150 of about 3,396,540 (313)

Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns; a Report of a Work Group [PDF]

Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens.

core  

A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel

International Journal of Neonatal Screening
Newborn screening (NBS) bloodspots are primarily used to test for a defined panel of conditions, yet screening expansion has necessitated the implementation of new tests.
Lawrence Greed, James Pitt, Ronda F. Greaves, Kate Coleman, Gabrielle Crisp, Enzo Ranieri, Mark de Hora, Dianne Webster, Natasha Heather   +8 more
doaj   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry

International Journal of Neonatal Screening
The aim of this study was to improve screening efficiency by establishing reasonable interpretation criteria for the use of flow injection analysis tandem mass spectrometry (FIA-MS/MS) in newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD).
Chengfang Tang, Minyi Tan, Yanna Cai, Sichi Liu, Ting Xie, Xiang Jiang, Li Tao, Yonglan Huang, Fang Tang   +8 more
doaj   +1 more source

TOLLIP Inhibits Psoriasis Progression via Suppressing PKM2‐Mediated Glycolysis in Keratinocytes

Advanced Science, EarlyView.
In this study, we identify TOLLIP as a critical regulator of psoriasis pathogenesis through its modulation of glycolytic metabolism. Our findings establish the TOLLIP‐PKM2‐glycolysis axis as a key mechanism linking metabolic reprogramming to psoriasis pathogenesis, and propose TOLLIP as a promising therapeutic target.
Xiuhuan Jiang, Guoying Miao, Na Shen, Qingxia Han, Xiaoru Han, Zichang Qiao, Kexin Feng, Zhuo Tan, Yaguang Wang, Xiuhua Liu, Chen Wu, Zhenzhen Yan   +11 more
wiley   +1 more source

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening

, 2012
BACKGROUND: Real-time quantitative PCR (qPCR) targeting a specific marker of functional T cells, the T-cell-receptor excision circle (TREC), detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined ...
Pass, Kenneth A., Pai, Sung-Yun, Navas, Jennifer S., Wilkey, Jonathan F., Baptiste, Jennifer C., Comeau, Anne Marie, Gerstel-Thompson, Jacalyn L., Eaton, Roger B.   +7 more
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Astrocytic LMP2 Coordinates NF‐κB and TGF‐β1/Smad3 Signaling to Drive Neuroinflammation after Cerebral Ischemia/Reperfusion

Advanced Science, EarlyView.
ABSTRACT Astrocyte reactivity critically shapes neuroinflammatory outcomes after ischemic stroke, yet the upstream regulators governing astrocyte state transitions remain incompletely defined. Here, we identify the immunoproteasome subunit low molecular weight protein 2 (LMP2) as an important modulator of astrocyte functional remodeling following ...
Yanguang Mao, Rulan Ma, Zejing Lin, Huiying Zhao, Yuexian Liu, Yonghe Su, Xu Zhang, Xingyong Chen   +7 more
wiley   +1 more source

Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]

, 1996
Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Rizzo, M., Vassallo Agius, Paul, Parascandalo, Raymond, Felice, Alex   +3 more
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Celastrol‐Loaded Conductive Hydrogel Mitigates Myocardial Ischemia‐Reperfusion Injury and Restores Electrophysiological Function

Advanced Science, EarlyView.
Schematic illustration of the Pluronic F127 diacrylate/gelatin methacryloyl/poly(3,4‐ethylenedioxythiophene):poly(styrenesulfonate)/celastrol hydrogel (FGPC) for localized myocardial ischemia–reperfusion injury treatment. FGPC combines sustained celastrol delivery with PEDOT:PSS‐mediated conductive support to attenuate acute oxidative/inflammatory ...
Shixin Wang, Shaojie Chen, Chengzong Li, Hongyi Cheng, Jincheng Jiao, Xiafeng Peng, Yike Zhang, Wei Sun, Feng Zhang, Chang Cui, Minglong Chen   +10 more
wiley   +1 more source

OTHER TITLE: Annual Report for State Fiscal Year 2011 (July 2010 - June 2011)

, 2011
"December 2011."Gavin, a Mother's Story -- Why Newborn Screening? -- Goals of the Kansas Newborn Screening Program -- Program Overview -- Advisory Council -- A Systems Approach to Newborn Screening -- Newborn Screening Test Results -- Positive ...
Kansas Newborn Screening Program.
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