Results 31 to 40 of about 374 (214)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Explosion Characteristics of Propanol Isomer–Air Mixtures

Energies, 2019
This paper describes a series of experiments performed to study the explosion characteristics of propanol isomer (1-propanol and 2-propanol)−air binary mixtures. The experiments were conducted in two different experimental arrangements—a 0.02
Jan Skřínský, Tadeáš Ochodek
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

PRETREATMENT TECHNOLOGIES IN BIOETHANOL PRODUCTION FROM LIGNOCELLULOSIC BIOMASS [PDF]

Poljoprivreda, 2008
Bioethanol is today most commonly produced from corn grain and sugar cane. It is expected that there will be limits to the supply of these raw materials in the near future. Therefore, lignocellulosic biomass, namely agricultural and forest waste, is seen
Vanja Janušić, Duška Ćurić, Tajana Krička, Neven Voća, Ana Matin   +4 more
doaj  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Applicable scope of oxygen-reduced air flooding and the limit of oxygen content

Petroleum Exploration and Development, 2018
The mechanisms of oxygen-reduced air flooding (ORAF) and the explosion limit and the corrosion control approaches were studied based on the pilots of oxygen-reduced air flooding (ORAF) in the Dagang, Changqing and Daqing oil fields in China.
Guangzhi LIAO, Huaijun YANG, Youwei JIANG, Shaoran REN, Dangguo LI, Liangang WANG, Zhengmao WANG, Bojun WANG, Weidong LIU   +8 more
doaj   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Experimental Research on Ethanol Inhibition of Hydrogen-Air Mixture Explosion

南方能源建设
[Introduction] During the hydrogen production process at hydrogen refueling stations, the mixture of ethanol and hydrogen can easily form a combustible gas, which may explode if ignited by sparks or high temperatures.
Aocheng SU, Xiaorong WANG, Genzhu JIANG, Yuan ZHU   +3 more
doaj   +1 more source

Experimental research on characteristics of coal spontaneous combustion and its influence on lower limits of gas explosion

Gong-kuang zidonghua, 2019
Most of existing research analyze gas explosion limit from single component gas or parial component mixed gas of coal spontaneous combustion, while analysis of gas explosion limit from mixed gas produced at different stages of coal spontaneous combustion
GU Zhoujie, LIU Zhentang, LIU Haoxiong, QIAN Jifa, LIN Song, LI Xiaoliang   +5 more
doaj   +1 more source