Results 161 to 170 of about 288,749 (359)

Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs [PDF]

, 2022
Lynn Bush, Hannah Davidson, Shani Gelles, Dawn Lea, Laura M. Koehly   +4 more
openalex   +1 more source

Phenotypic Diversity and Outcomes in Pediatric NMDA Receptor Encephalitis: A 15‐Year Retrospective Study from the Largest Children's Hospital in the United States

Advanced Science, EarlyView.
ABSTRACT Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children.
Alexander J. Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M. Yarimi, Kristen S. Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O. Murray   +9 more
wiley   +1 more source

Neonatal screening programme for phenylketonuria [PDF]

, 1991
R. J. Pollitt
openalex   +1 more source

Neonatal Outcomes of Fetuses with Isolated or Multiple Soft Markers in Ultrasound Screening

, 2022
Mahboobeh Shirazi, Mona Taghavipour, B Moradi, Fatemeh Sharafi, Fatemeh Golshahi, Behrokh Sahebdel, Elham Feizabad, Maria Nezamnia, Zahra Khazaeipour, Maryam Moshfeghi, Fatemeh Sharafi   +10 more
openalex   +2 more sources

Bilirubin as a Modulator of WNK1 Protein Signaling: Implications for Neuroinflammatory Diseases

Advanced Science, EarlyView.
ABSTRACT Previously regarded merely as a potentially harmful waste product of heme catabolism, bilirubin has now emerged as a pleiotropic molecule with potent antioxidant, anti‐inflammatory, and hormone‐like properties. Recent findings have revealed protective effects against cardiovascular, metabolic, autoimmune, and neoplastic diseases, as well as ...
Sri Jayanti, Libor Vítek, Silvia Gazzin, Claudio Tiribelli   +3 more
wiley   +1 more source

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

Orphanet Journal of Rare Diseases
Background Recent findings indicate that infants with spinal muscular atrophy (SMA) treated early through newborn screening (NBS) have better outcomes. This study aimed to investigate the long-term outcomes of a 5-year SMA NBS program in Taiwan.
Chen-Hua Wang, Ting-Rong Hsu, Mei-Ying Liu, Li-Yun Wang, I-Jun Chou, Wang-Tso Lee, Wen-Chen Liang, Inn-Chi Lee, Hsiao-Jan Chen, Shu-Min Kao, Hui-Chen Ho, Dau-Ming Niu, Kwang-Jen Hsiao, Ming-Yuh Chang, Hui-Min Hsieh, Yuh-Jyh Jong   +15 more
doaj   +1 more source

Restoring Iron Homeostasis via Smoothened Inhibition: A Novel Strategy Against Hearing Loss

Advanced Science, EarlyView.
 . ABSTRACT Sensorineural hearing loss (SNHL) induced by noise or aminoglycoside antibiotics is a significant public health concern without any FDA‐approved pharmaceutical therapies. Dysregulation of iron homeostasis and its subsequently induced ferroptosis has increasingly been identified as a key mechanism underlying cochlear hair cell (HC) damage ...
Huanyu Mao, Xiang Li, Yaqi Liao, Liman Liu, Xian Gao, Hailiang Lin, Wenli Ni, Huawei Li, Yan Chen, Wenyan Li   +9 more
wiley   +1 more source

Hierarchical Channeled Graphitized Nanoarchitecture as a Diagnostic Platform for Maternal Fever Warning

Advanced Science, EarlyView.
This study presents a hierarchically channeled graphitized nanoarchitecture (HPGC‐Z67) as a novel nano‐diagnostic platform. It enables sensitive and efficient N‐glycan extraction from plasma, significantly reducing processing time and cost. The platform identifies pivotal N‐glycans to accurately differentiate between infectious and non‐infectious ...
Yiwen Lin, Ning Li, Heyuhan Zhang, Xufang Hu, Zhiqiang Liu, Chunhui Deng   +5 more
wiley   +1 more source

Phosphatidic Acid‐TRIM59‐Olig2 Signaling Couples Metabolic Dysfunction to Myelination Failure in PWMI

Advanced Science, EarlyView.
PA accumulates after hypoxic‐ischemic injury and stabilizes the E3 ligase TRIM59 in OPCs. Stabilized TRIM59 enhances ubiquitination and degradation of Olig2, blocking differentiation and causing hypomyelination in PWMI. Modulating PA synthesis restores Olig2 levels, improves myelination, and ameliorates behavioral deficits, defining a metabolically ...
Xinyu Li, Yanan Liu, Meng Zhang, Yiwei Liu, Meiting Liu, Kaishen Zhu, Zhian Liu, Chao Ren, Ruiqin Yao   +8 more
wiley   +1 more source

Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine‐impregnated paper: preliminary results of an improved DMB‐based procedure [PDF]

, 2010
J.R. Alonso Fernández, Javier Fidalgo, Cristobal Colón   +2 more
openalex   +1 more source