Results 41 to 50 of about 27,261 (259)

Nuevas y viejas inscripciones de la región de Lara de los Infantes: Cubillo del César, Lara de los Infantes y Vega de Lara [PDF]

, 2021
El presente trabajo analiza tres fragmentos de estelas romanas de la región de Lara de los Infantes, dos de Cubillo del César, una con restos de texto y otra anepigráfica y con escena de banquete funerario y una más procedente de Vega de Lara, antes un ...
Carcedo de Andrés, Bruno P., Carcedo de Andrés, Bruno Pedro   +1 more
core   +1 more source

BCG vaccination potentiates oxidative phosphorylation in neonatal myeloid‐derived suppressor cells

FEBS Open Bio, EarlyView.
BCG vaccination enhances oxidative phosphorylation in neonatal MDSCs, impairing their immunosuppressive function. It upregulates electron transport chain genes and mitochondrial activity, increasing ATP and oxygen consumption. Pharmacological OXPHOS inhibition partially restores suppressive capacity, confirming causality.
Yingying Chen, Hui Li
wiley   +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

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Desarrollo psicomotriz en infantes del Distrito de Palca [PDF]

, 2022
La presente investigación titulada “Desarrollo Psicomotriz en Infantes del distrito de Palca”, se desarrolló bajo un enfoque cuantitativo, de tal manera el problema fue: ¿Cuál es el nivel de desarrollo psicomotriz en los infantes del distrito de Palca ...
Martinez Carhuancho, Juan Carlos, Huaira Charapaqui, Eduarda   +1 more
core  

Intervención propioceptiva a corto plazo para el déficit de equilibrio estático en futbolistas infantiles

Revista Cubana de Investigaciones Biomédicas, 2019
Introducción: El fútbol es un deporte de varias acciones motrices, que provoca en el cuerpo un desequilibrio constante, enfatizado en edades tempranas, siendo a su vez la propiocepción una estrategia para potenciar el equilibrio en futbolistas de ...
Jessica Natali Vallejo Rojas, Cristian Lenin López Montalvo, Miguel Ángel Vallejo Rojas, Enrique Chávez Cevallos   +3 more
doaj  

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

Efectos adversos del tratamiento antirretroviral en niños infectados por el virus de la inmunodeficiencia humana Adverse effects of antiretroviral treatment in children infected by the human immunodeficiency virus

Infectio, 2012
Desde que se conoció la infección por el virus de la inmunodeficiencia humana (VIH), se han diagnosticado más de 2,5 millones de niños infectados a nivel mundial.
Xiomara Usuga
doaj  

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source