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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFMechanism of activation of TLR4/NF-κB/NLRP3 signaling pathway induced by heat stress disrupting the filtration barrier in broiler.
BMC Vet Res
December 2024
College of Animal Science and Technology, Henan University of Science and Technology, Luoyang, 471000, China.
Background: High-temperature environment can cause acute kidney injury affecting renal filtration function. To study the mechanism of renal injury caused by heat stress through activates TLR4/NF-κB/NLRP3 signaling pathway by disrupting the filtration barrier in broiler chickens. The temperature of broilers in the TN group was maintained at 23 ± 1 °C, and the HS group temperature was maintained at 35 ± 1℃ from the age of 21 days, and the high temperature was 10 h per day, and one broiler from each replicate group at the age of 35 and 42 days was selected for blood sampling, respectively.
View Article and Find Full Text PDFStress hyperglycaemia ratio is an independent predictor of in-hospital heart failure among patients with anterior ST-segment elevation myocardial infarction.
BMC Cardiovasc Disord
December 2024
Prince Faisal bin Khalid Cardiac Centre, Abha, Saudi Arabia.
Background: Stress hyperglycaemia ratio (SHR) has been reported to be independently and significantly associated with various adverse cardiovascular events as well as mortality. Moreover, in-hospital heart failure following acute myocardial infarction has been demonstrated to account for majority of all heart failure (HF) cases with anterior myocardial infarction showing higher rates of HF. However, the association between SHR and in-hospital HF following an anterior ST-elevation myocardial infarction (STEMI) has not been reported earlier.
View Article and Find Full Text PDFAge-related impact of phenobarbital in suppressing prenatal alcohol exposure-related seizures in developing rats.
Alcohol
December 2024
Howard University College of Medicine, Department of Physiology and Biophysics, Washington, DC 20059, United States. Electronic address:
Prenatal alcohol exposure (PAE) during pregnancy can increase the prevalence of N-methyl-D-aspartate (NMDA)-induced generalized tonic-clonic seizures (GTCSs) in developing rats. However, it is unclear whether phenobarbital (PB) can suppress these PAE-related seizures. To explore this knowledge gap, we investigated the effects of acute PB treatment on NMDA-induced seizures in postpartum rats, prenatally exposed to alcohol on gestational day 18 (GD18), at two developmental stages: day 7 (P7), the equivalent of pre-term neonates, and day 15 (P15), the equivalent of full-term neonates.
View Article and Find Full Text PDFTranscriptomic analysis of pancreatic tissue from humans and mice identifies potential gene signatures and unexplored pathways during progression from acute to chronic pancreatitis.
Gene
December 2024
Translational Research Centre, Asian Healthcare Foundation, AIG Hospitals, Hyderabad, India. Electronic address:
Background: A comprehensive understanding of the molecular pathogenesis of chronic pancreatitis (CP), a fibroinflammatory disorder of the pancreas, is warranted for the development of targeted therapies. The current study focused on comparing the transcriptomes of pancreatic tissues obtained from patients with CP with those of two rodent models of chemically induced CP to identify dysregulated genes/signaling pathways.
Methods: Pancreatitis was induced in mice using cerulein and L-arginine.
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