Results 41 to 50 of about 220,107 (299)

Opportunity analysis of newborn screening programs [PDF]

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program.
HERRERO, Carmen, MORENO-TERNERO, Juan D.
core   +3 more sources

Implementing a newborn hearing screening programme : a feasibility study : a thesis presented in partial fulfillment of the requirements for the degree of Master of Arts at Massey University [PDF]

, 2004
Aim. To determine the feasibility of implementing a universal newborn hearing screening programme at National Women's Hospital (NWH), Auckland, New Zealand. Method. This feasibility study evaluates the potential for success of a Universal Newborn Hearing
Anderson-Hawke, Karen
core  

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

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

A Simple Method to Overcome the “Floating Disc Problem” Using the GALT-Assay on the PerkinElmer GSP—Remeasurement on a Stand Alone Plate Fluorimeter

International Journal of Neonatal Screening, 2016
The Perkin Elmer Genetic Screening Processor (GSP)™ is a fully automated system for the processing of immunoassays for thyroid stimulating hormone (TSH), 17-hydroxyprogesterone (17-OHP), immuno reactive trypsin (IRT), biotinidase, and total T4, as well ...
Ralph Fingerhut, Susanna H. M. Sluka
doaj   +1 more source

Newborn hearing screening in Hong Kong [PDF]

, 2006
OBJECTIVES. To review studies on newborn hearing screening in Hong Kong and the current evidence on the cost-effectiveness of universal newborn hearing screening programmes and to determine their value and the best model for such a programme in Hong Kong.
Lam, BCC
core  

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

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

Orphanet Journal of Rare Diseases
Background The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles.
Qiong Wang, Jiang Duan, Xiaolong Zhao, Zhiye Qi   +3 more
doaj   +1 more source

A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou

Heliyon, 2022
Background: To estimate the overall situation of Duchenne muscular dystrophy (DMD) screening in newborns in Guangzhou, China. Method: A total of 62553 newborns including 44268 males and 18285 females were screened for DMD by measuring muscle specific ...
Xuefang Jia, Xiang Jiang, Yonglan Huang
doaj   +1 more source

Health System Support for Childbirth care in Southern Tanzania: Results from a Health Facility Census. [PDF]

, 2013
Progress towards reaching Millennium Development Goals four (child health) and five (maternal health) is lagging behind, particularly in sub-Saharan Africa, despite increasing efforts to scale up high impact interventions.
A Jahn, A Nyamtema, A Nyamtema, A Pembe, AMDD, B Moller, BL Sorensen, C Kurowski, C McCord, C Pereira, C Ronsmans, Carine Ronsmans, Claudia Hanson, D Elbourne, D Urassa, D Urassa, F Manzi, F Manzi, Fatuma Manzi, G Bosse, G Mbaruku, Godfrey Mbaruku, H Kidanto, Hassan Mshinda, I Sorbye, J Armstrong Schellenberg, Jenny Jaribu, JK Rajaratnam, Joanna Schellenberg, JRMA Schellenberg, K Gross, K Makowiecka, L Gilson, M Kayongo, M Kruk, M Mrisho, M Sarker, Marcel Tanner, ME Kruk, ME Kruk, ME Kruk, Ministry of Health & Civil Service Department Tanzania, Ministry of Health (RCHS/NMCP), JHPIEGO, Ministry of Health and Social Welfare, Ministry of Health and Social Welfare, Ministry of Health-RCHS, GTZ, MY Yakoob, National Bureau of Statistics (NBS) Tanzania, ICF Macro, National Bureau of Statistics (NBS) Tanzania, Macro International Inc, OE Olsen, OM Campbell, R Pattinson, RE Black, S Cousens, S Penfold, S Scott, Stata Statistical Software, Suzanne Penfold, United Republic of Tanzania, Ministry of Health - Reproductive and Child Health Section, Werner Maokola, WHO, WHO, WHO, WHO, WHO, UNFPA, UNICEF, AMMD, WHO, UNFPA, UNICEF, The World Bank Group, WHO, UNICEF, WHO, UNICEF, UNFPA, The World Bank, ØE Olsen   +68 more
core   +5 more sources