Results 31 to 40 of about 16,177,862 (256)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +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

Immature Platelet Counts and Thrombopoietin Plasma Concentrations in Thrombocytopenic and Non-thrombocytopenic Preterm Infants

Frontiers in Pediatrics, 2021
Objective: Immature platelet counts (IPC) may prove useful in guiding platelet transfusion management in preterm neonates. However, the relationship between IPCs and thrombopoietin (Tpo) concentrations has not been evaluated in preterm neonates.Methods ...
Hannes Sallmon, Hannes Sallmon, Hannes Sallmon, Andreas Weimann, Christoph Bührer, Boris Metze, Christof Dame, Malte Cremer   +7 more
doaj   +1 more source

Low birth weight for gestation and airway function in infancy: exploring the fetal origins hypothesis [PDF]

, 2004
Background: Poor fetal growth has been associated with impaired airway function in adult life, but evidence linking birth weight and airway function in early childhood is sparse.
Lum, S, Costeloe, K, Hoo, AF, Hawdon, J, Stocks, J, Dezateux, C   +5 more
core  

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

Implementation of a protocol proposed by the Brazilian National Health Surveillance Agency for antibiotic use in very low birth weight infants

Jornal de Pediatria (Versão em Português), 2013
Objective: : To analyze the implementation of a protocol proposed by the Brazilian National Health Surveillance Agency (Agência Nacional de Vigilância Sanitária – ANVISA) to improve sepsis diagnosis in very low birth weight newborns.
Maria Cristina F. Guedes Pinto, Arnaldo C. Bueno, Alan A. Vieira   +2 more
doaj   +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

Mortality and short-term outcomes of very low birth weight infants in Al-Qassim region, Saudi Arabia – Single-center experience

Saudi Journal for Health Sciences
Background: Very low birth weight (VLBW) is defined as a birth weight
Mohammad Abdulaziz Alhasoon, Maha Saad Zain Al-Abeden, Khadijah Abdulrahman Alrajhi, Arina Mohammed Alhamed, Mayar Ahmad Alzain, Yahya Ati AlMalki, Abdulrhman Obaid Alharbi, El Amin Mohamed Sobahi   +7 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

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