Results 111 to 120 of about 996,027 (306)

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

Gases en sangre de arteria umbilical de neonatos a término en altura

Revista Peruana de Medicina Experimental y Salud Pública
Con el objetivo de determinar los valores normales de gases en sangre en la arteria umbilical de neonatos a término a 3400 m de altitud se hizo un estudio transversal, realizado en la sangre de la arteria umbilical de 300 neonatos a término, adecuados ...
Wilfredo Villamonte, Darío Escalante, Janet Yabar, María Jerí, Paola Peralta, Robert Ochoa   +5 more
doaj  

Role of Inflammation Markers and Osteopontin in the Prediction of Fetal Stress

Gazi Medical Journal
Objective: To determine the possible association between acute fetal stress during labor and maternal blood levels of osteopontin (OPN), white blood cells, sedimentation, and C-reactive protein (CRP).
Betül Tokgöz Çakır, Hande Esra Koca, Elif Akkaş Yılmaz, Tuncay Küçüközkan   +3 more
doaj   +1 more source

Morphofunctional Characteristics of the Umbilical Vessels from Newborns Delivered by Mothers Experiencing an Exacerbation of Chronic Cytomegalovirus Infection during Gestation [PDF]

, 2013
The characteristic features of the cord blood and endothelium of the umbilical vessels from newborns delivered by mothers experiencing an exacerbation of chronic cytomegalovirus (CMV) infection during gestation has been studied.
Irina A. Andrievskaya, PhD, ScD, Michael T. Lucenko, PhD, ScD   +1 more
core  

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

A common signaling pathway is activated in erythroid cells expressing high levels of fetal hemoglobin: a potential role for cAMP-elevating agents in β-globin disorders

Journal of Blood Medicine, 2013
Tohru Ikuta,1 Yuichi Kuroyanagi,1 Nadine Odo,1 Siyang Liu21Department of Anesthesiology and Perioperative Medicine, 2Department of Physiology, Medical College of Georgia, Georgia Regents University, Augusta, GA, USABackground: Although erythroid cells ...
Ikuta T, Kuroyanagi Y, Odo N, Liu S
doaj  

The influence of insulin-related genetic variants on fetal growth, fetal blood flow, and placental weight in a prospective pregnancy cohort. [PDF]

Sci Rep, 2023
Reim PK, Engelbrechtsen L, Gybel-Brask D, Schnurr TM, Kelstrup L, Høgdall EV, Hansen T.   +6 more
europepmc   +1 more source

Teratogenic test of Pandanus conoideus var. yellow fruit extract to development of rat embryo (Rattus norvegicus) [PDF]

, 2010
Muna L, Astirin OP, Sugiyarto. 2010. Uji teratogenik ekstrak Pandanus conoideus varietas buah kuning terhadap perkembangan embrio tikus putih (Rattus norvegicus). Nusantara Bioscience 2: 126-134.
ASTIRIN, OKID PARAMA, MUNA, LINTAL, SUGIYARTO,   +2 more
core  

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Eradication of Helicobacter pylori with triple therapy regimen (omeprazole, clarithromycin and amoxicillin) in children for seven days (A Pilot Study)

Journal of Pediatrics Review, 2014
Background and purpose: Successful treatment of Helicobacter pylori infection causes not only eradication of pathogen, but also prevents the associated diseases such as peptic ulcer, gastric carcinoma and lymphoma.
Mehri Najafi, Fariba Seighali
doaj   +2 more sources