Results 141 to 150 of about 1,606,043 (303)

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

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

Advanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang, Lun Zhu, Ze Sun, Ruolin Jia, Ziming Wang, Jiayao Zhao, Bohao Liu, Haiqing Xiong, Xiaowei Yu, Yanzhu Yue   +9 more
wiley   +1 more source

Early‐Life Manganese Overexposure Activates Microglial Phagocytosis through the YY1/TREM2 Axis Leading to Hippocampal Synaptic Remodeling in Mice

Advanced Science, EarlyView.
Early‐life manganese exposure induces behavioral deficits and aberrant hippocampal synaptic remodeling by enhancing microglial phagocytosis in young adult male mice. Mechanistically, manganese promotes Yin Yang 1 (YY1)/triggering receptor expressed on myeloid cells 2 (TREM2) signaling through enhanced HIF1α‐mediated transcription and suppressed SMURF2 ...
Keyu Chen, Bin He, Kuan Liu, Zhuo Ma, Bin Xu   +4 more
wiley   +1 more source

Lipid Metabolic Dysregulation Driven by OSMR Mutations Underlies Amyloidogenesis in Primary Localized Cutaneous Amyloidosis

Advanced Science, EarlyView.
OSMR mutations disrupt STAT5 signaling and AKR1B10‐mediated lipid metabolism, leading to lipid accumulation and protein aggregation in keratinocytes. This metabolic reprogramming drives amyloid deposition in primary localized cutaneous amyloidosis, revealing a mechanistic link between lipid dysregulation and amyloidogenesis.
Huiting Liu, Wen Zheng, Chao Yang, Tao Yang, Qiuyu Chen, Ping Lu, Huan Yang, Jun Liu, Bin Yang   +8 more
wiley   +1 more source

Mitochondrial Protection and Neural Repair via ROS‐Responsive Biomimetic Nanoparticles in Intracerebral Hemorrhage

Advanced Science, EarlyView.
A ROS‐responsive biomimetic nanoparticle platform co‐delivers DIDS and Mdivi‐1 to protect mitochondria and promote neural repair after intracerebral hemorrhage. By targeting LPAR1/VDAC1‐related mitochondrial dysfunction, the nanotherapy reduces oxidative injury, neuronal apoptosis, and blood‐brain barrier disruption, improving neurological recovery and
Ling Gao, Li Peng, Xiaobin Zheng, Cong Tan, Chuang Wang, Qijiang Xiong, Weiming Chen, Zhao Yang   +7 more
wiley   +1 more source

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

Advanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang, Xinyuan Li, Lixia Huang, Xiangcai Zhang, Wujian Ke   +4 more
wiley   +1 more source

Inhibition of MEKK3 Prevents Cerebral Cavernous Malformation Progression Via Restoring Endothelial Integrity and Restricting Microglial Activation

Advanced Science, EarlyView.
In this study, we demonstrate that aberrant MEKK3 signaling in endothelial cells and microglia drives the progression of cerebral cavernous malformations (CCMs). Furthermore, we identify DPDH as a potent small‐molecule MEKK3 inhibitor with substantial therapeutic potential for CCM treatment.
Weiwei Zheng, Suyun Yu, Liwenyu Chen, Jing Ma, Peiliang Shen, Chang Yu, Xiaoqing Xin, Qiuhong Shen, Jing Chen, Song Ke, Hao Liu, Xiaobing Jiang, Ruogu Qi, Juming Yan, Jia Li, Jaesung P. Choi, Yin Lu, Yang Zhao   +17 more
wiley   +1 more source

Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing. [PDF]

Int J Neonatal Screen
Engström K, Zetterström RH, Wedell A, Nordenström A.   +3 more
europepmc   +1 more source

Doing Death 'Well': Reframing Neonatal and Perinatal Palliative Care

, 2018
Description Death is a part of life in the NICU, and any clinician associated with labor and delivery and the care of newborns will inevitably experience perinatal death and bereavement.
Kain, Victoria
core  

Sustainable Hydrogel‐Forming Microneedle‐Reservoir Patches for Transdermal Delivery of Hydrophilic Macromolecules: Biopolymers, Green Manufacturing and Translation

Advanced Science, EarlyView.
Hydrogel‐forming microneedle (HFMN)‐reservoir patches provide a modular route for controlled transdermal delivery of hydrophilic biomacromolecules. The platform integrates skin‐barrier penetration, sustainable biopolymers, scalable green manufacturing, hydration‐driven transport, model‐cargo validation, and translational quality requirements.
Siddharth Mohanty, Mehmet Onur Aydogdu, Sijia Kang, Xinbo Li, Mohan Edirisinghe   +4 more
wiley   +1 more source