Results 91 to 100 of about 280,708 (291)

Correction: Hall et al. Oral and Poster Abstracts of the 13th ISNS European Regional Meeting. Int. J. Neonatal Screen. 2025, 11, 21

International Journal of Neonatal Screening
The authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
Kate Hall, Peter C. J. I. Schielen, Dimitris Platis   +2 more
doaj   +1 more source

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Orphanet Journal of Rare Diseases, 2018
Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs).
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin   +13 more
doaj   +1 more source

The Future of Research in Cognitive Robotics: Foundation Models or Developmental Cognitive Models?

Advanced Robotics Research, EarlyView.
Research in cognitive robotics founded on principles of developmental psychology and enactive cognitive science would yield what we seek in autonomous robots: the ability to perceive its environment, learn from experience, anticipate the outcome of events, act to pursue goals, and adapt to changing circumstances without resorting to training with ...
David Vernon
wiley   +1 more source

A Rapid Assessment of the Quality of Neonatal Healthcare in Kilimanjaro Region, Northeast Tanzania. [PDF]

, 2012
While child mortality is declining in Africa there has been no evidence of a comparable reduction in neonatal mortality. The quality of inpatient neonatal care is likely a contributing factor but data from resource limited settings are few. The objective
AB Pembe, AS Nyamtema, Bernard Mbwele, C Klingenberg, C Opondo, CA Petti, CA Petti, CR Polage, D Acolet, DE Dow, E Ahman, Elizabeth Reddy, H Reyburn, HL Kidanto, HL Kidanto, Hugh Reyburn, J Newman, JE Lawn, JE Lawn, JK Rajaratnam, JM Belizan, K Gross, K Gross, K Manji, L Liu, LF Mott, M English, M English, M Mrisho, M Sarker, N Iriya, N Opiyo, R Lozano, SC Anyangwe, SG Hinderaker, SK Gaise, T Duke, UNICEF, United Nations Development Programme UNDP Tanzania, World Health Organization, World Health Organization, World Health Organization, ZA Bhutta   +42 more
core   +2 more sources

Nanomaterial‐Based Muscle Cell/Neural Tissue Biohybrid Robots: From Actuation to Biomedical Applications

Advanced Robotics Research, EarlyView.
Muscle cell‐based biohybrid robot using nanomaterials for function enhancement and neural function for biomedical applications. Biohybrid robotics, an emerging field combining biological tissues with artificial systems, has made significant progress in developing various biohybrid constructs, including muscle‐cell‐driven biorobots and microbots.
Minkyu Shin, Sangeun Lee, Su Ryon Shin, Jin‐Ha Choi, Jeong‐Woo Choi   +4 more
wiley   +1 more source

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

OntONeo: The Obstetric and Neonatal Ontology [PDF]

, 2016
This paper presents the Obstetric and Neonatal Ontology (OntONeo). This ontology has been created to provide a consensus representation of salient electronic health record (EHR) data and to serve interoperability of the associated data and information ...
Almeida, Mauricio, Elkin, Peter, Farinelli, Fernanda, Smith, Barry   +3 more
core  

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]

, 2015
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA, E. Ordoñez, H. Dierickx, JC Jani, KH Nicolaides, MM Gil, PJ Willems, V. Cirigliano   +7 more
core   +1 more source

Indole‐3‐Propionic Acid Improves Alveolar Development Impairment via Targeting VAMP8‐mediated SNAREs Complex Formation in Bronchopulmonary Dysplasia

Advanced Science, EarlyView.
This study aims to evaluate the impact of the tryptophan‐derived metabolite indole‐3‐propionic acid (IPA) on lung development and autophagic flux. IPA alleviates hyperoxia‐induced alveolar arrest by promoting autophagosome‐lysosome fusion via inhibition of VAMP8 phosphorylation, which is suggestive of a promising therapeutic target of BPD.
Beibei Wang, Xu Chen, Haowei Xu, Zhiqi Zeng, Keyu Lu, Yu Mao, Qianru Lv, Hui Shi, Song Liu, Xian Shen, Chunyu Yin, Yang Yang, Yan Guo, Xingyun Wang, Rui Cheng   +14 more
wiley   +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