Results 91 to 100 of about 147,877 (305)

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

BMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen   +8 more
doaj   +1 more source

Genomic dissection of the 1994 Cronobacter sakazakii outbreak in a French neonatal intensive care unit [PDF]

, 2015
Background: Cronobacter sakazakii is a member of the genus Cronobacter that has frequently been isolated from powdered infant formula (PIF) and linked with rare but fatal neonatal infections such as meningitis and necrotising enterocolitis.
Farbos, A, McNally, A, Paszkiewicz, K, Alan McNally, Moore, Karen, Audrey Farbos, Forsythe, S, Forsythe, Stephen, Stephen Forsythe, Paszkiewicz, Konrad, Dickins, Ben, Masood, Naqash, Farbos, Audrey, Konrad Paszkiewicz, Moore, K, Ben Dickins, Karen Moore, McNally, Alan; id_orcid, Masood, N, Naqash Masood, Dickins, B   +20 more
core   +1 more source

ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells

Advanced Science, EarlyView.
With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao, Shannon Erhardt, Li Tang, Xiaotong Chen, Stephen M Farmer, Zixiu Cheng, Wen Chen, Ella Ziyuan Lu, Kihan Sung, Chang‐Ru Tsai, Mingjie Zheng, Sheng Zhang, Yang Liu, Jianxin Wang, Min Li, James F Martin, Jun Wang   +16 more
wiley   +1 more source

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

, 2020
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an ...
Tejal Patel, Hofman, Paul L, Heather, Natasha L, Lauren G. Bresnahan, Bresnahan, Lauren G, Paul L. Hofman, Mark R. de Hora, Dianne Webster, Webster, Dianne, Patel, Tejal, de Hora, Mark R, Natasha L. Heather   +11 more
core   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Frontiers in Genetics
BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of
Gang Xiao, Zonghui Feng, Chaochao Xu, Xuzhen Huang, Maosheng Chen, Min Zhao, Yanbin Li, Yang Gao, Shulin Wu, Yuyan Shen, Ying Peng   +10 more
doaj   +1 more source

Newborn screening for thyroid-stimulating hormone as an indicator for assessment of iodine status in the Republic of Macedonia [PDF]

Journal of Medical Biochemistry, 2016
Background: Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L on newborn screening points toward an impaired iodine status ...
Anastasovska Violeta, Kocova Mirjana
doaj  

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

BMC Medical Genetics, 2019
Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu   +8 more
doaj   +1 more source

GATA4‐Driven Transcription of HtrA1 Promotes Cellular Senescence in Ménière's Disease and Age‐Related Audio‐Vestibular Dysfunction

Advanced Science, EarlyView.
This study identifies the HDAC6/GATA4/HtrA1 axis as a critical driver of cellular senescence in the inner ear. GATA4 nuclear translocation, facilitated by HDAC6 downregulation, transcriptionally activates HtrA1, promoting hair cell senescence, SASP, and audio‐vestibular dysfunction in models of Ménière's disease and age‐related audio‐vestibular ...
Na Zhang, Na Li, Yan Wang, Jing Zhang, Jiahui Liu, Lei Chen, Yongdong Song, Yurong Mu, Yuechen Han, Yafeng Lyu, Xiaofei Li, Hanyue Wang, Jing Wang, Yao Lu, Zhaomin Fan, Daogong Zhang, Haibo Wang   +16 more
wiley   +1 more source

Unraveling the metabolomic architecture of autism in a large Danish population-based cohort

BMC Medicine
Background The prevalence of autism in Denmark has been increasing, reaching 1.65% among 10-year-old children, and similar trends are seen elsewhere.
Filip Ottosson, Francesco Russo, Anna Abrahamsson, Nadia MacSween, Julie Courraud, Kristin Skogstrand, Olle Melander, Ulrika Ericson, Marju Orho-Melander, Arieh S. Cohen, Jakob Grove, Preben Bo Mortensen, David M. Hougaard, Madeleine Ernst   +13 more
doaj   +1 more source

A NEW OUTCOME MEASURE FOR COST-UTILITY ANALYSES OF SCREENING PROGRAMS [PDF]

In this paper we provide a new outcome measure for the cost-utility analyses of alternative screening programs of a particular disease. We show that for non-invasive screening programs satisfying plausible assumptions, QALYs can be replaced by a simpler ...
Carmen Herrero Blanco, Juan D. Moreno Ternero   +1 more
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