Results 211 to 220 of about 4,181,730 (416)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Renal Health Models in Latin America: Development of National Programs of Renal Health [PDF]

, 2006
Santos Ángel Depine, Rafael Burgos-Calderón   +1 more
openalex   +1 more source

Advanced glycation end products promote the release of endothelial cell‐derived mitocytosis

FEBS Open Bio, EarlyView.
Under diabetic conditions, AGEs induce mitochondrial damage in HUVECs, activating migrasome‐mediated mitocytosis. Migrasomes encapsulate damaged mitochondria and are released into the extracellular space, facilitating intercellular mitochondrial transfer.
Rong Liu, Yuhao Zhang, Tiantian Ge, Hao Wu, Yongbin Ma, Honghua Ye, Fei Guo   +6 more
wiley   +1 more source

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima, Satoshi Ito, Akira Kushida, Aki Abe, Wataru Motsuchi, David Verbel, Manu Vandijck, Geert Jannes, Ina Vandenbroucke, Katsumi Aoyagi   +9 more
wiley   +1 more source

Who Goes Next? Optimizing the Allocation of Adherence-Improving Interventions [PDF]

arXiv
Long-term adherence to medication is a critical factor in preventing chronic diseases, such as cardiovascular disease. To address poor adherence, physicians may recommend adherence-improving interventions; however, such interventions are costly and limited in their availability.
arxiv  

Health and safety plan for the Environmental Restoration Program at Oak Ridge National Laboratory

, 1994
C. Jr. Clark, S.N. Burman, D.J. Jr. Cipriano, M.S. Uziel, K.R. Kleinhans, P.F. Tiner   +5 more
openalex   +1 more source

Health Care Spending: Context and Policy [PDF]

, 2004
[Excerpt] The United States spends a large and growing share of national income on health care. In 2007, health spending is expected to approach $2.3 trillion and account for more than 16% of gross domestic product (GDP). We spend substantially more than
Jenson, Jennifer
core   +4 more sources

KCS1 and VIP1, the genes encoding yeast phosphoinositol pyrophosphate synthases, are required for Ca2+‐mediated response to dimethylsulfoxide (DMSO)

FEBS Open Bio, EarlyView.
Ca2+‐mediated response to DMSO was investigated in Saccharomyces cerevisiae cells expressing Ca2+‐dependent aequorin. Cell exposure to DMSO induced a cytosolic Ca2+ wave dependent on the integrity of the Cch1/Mid1 channel. Deletion of KCS1 or VIP1 genes encoding the phosphoinositol pyrophosphate (PP‐IP) synthases suppressed the DMSO‐induced Ca2 ...
Larisa Ioana Gogianu, Lavinia Liliana Ruta, Claudia Valentina Popa, Simona Ghenea, Ileana Cornelia Farcasanu   +4 more
wiley   +1 more source

Effects of pregnancy on neuromyelitis optica spectrum disorder and predictors of related attacks

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1918-1925, December 2022., 2022
Abstract Objective Our study aimed to investigate the influence of pregnancy on the course of neuromyelitis optica spectrum disorders (NMOSD) and to explore the independent predictors of pregnancy‐related attacks. Methods We performed a retrospective study of patients with NMOSD based on the Wingerchuk 2006 or the revised Wingerchuk 2015 criteria ...
Qin Du, Ziyan Shi, Hongxi Chen, Ying Zhang, Yuhan Qiu, Yanlin Lang, Lingyao Kong, Hongyu Zhou   +7 more
wiley   +1 more source

A Convolutional Neural Network-based Ensemble Post-processing with Data Augmentation for Tropical Cyclone Precipitation Forecasts [PDF]

arXiv
Heavy precipitation from tropical cyclones (TCs) may result in disasters, such as floods and landslides, leading to substantial economic damage and loss of life. Prediction of TC precipitation based on ensemble post-processing procedures using machine learning (ML) approaches has received considerable attention for its flexibility in modeling and its ...
arxiv