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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 PDFUltrasound-responsive nanoparticles for nitric oxide release to inhibit the growth of breast cancer.
Cancer Cell Int
December 2024
Department of Ultrasound, Chongqing General Hospital, Chongqing University, Chongqing, 401147, China.
Gas therapy represents a promising strategy for cancer treatment, with nitric oxide (NO) therapy showing particular potential in tumor therapy. However, ensuring sufficient production of NO remains a significant challenge. Leveraging ultrasound-responsive nanoparticles to promote the release of NO is an emerging way to solve this challenge.
View Article and Find Full Text PDFThe transcription factor YbdO attenuates the pathogenicity of avian pathogenic Escherichia coli by regulating oxidative stress response.
BMC Microbiol
December 2024
College of Agriculture and Forestry, Linyi University, Linyi, 276005, Shandong, China.
Avian pathogenic Escherichia coli (APEC) is a significant pathogen infecting poultry that is responsible for high mortality, morbidity and severe economic losses to the poultry industry globally, posing a substantial risk to the health of poultry. APEC encounters reactive oxygen species (ROS) during the infection process and thus has evolved antioxidant defense mechanisms to protect against oxidative damage. The imbalance of ROS production and antioxidant defenses is known as oxidative stress, which results in oxidative damage to proteins, lipids and DNA, and even bacterial cell death.
View Article and Find Full Text PDFEvaluating sex-specific responses to western diet across the lifespan: impact on cardiac function and transcriptomic signatures in C57BL/6J mice at 530 and 640/750 days of age.
Cardiovasc Diabetol
December 2024
Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, 1470 Madison Ave, s7-119, New York, NY, USA.
Background: Long-term consumption of Western Diet (WD) is a well-established risk factor for the development of cardiovascular disease (CVD); however, there is a paucity of studies on the long-term effects of WD on the pathophysiology of CVD and sex-specific responses.
Methods: Our study aimed to investigate the sex-specific pathophysiological changes in left ventricular (LV) function using transthoracic echocardiography (ECHO) and LV tissue transcriptomics in WD-fed C57BL/6 J mice for 125 days, starting at the age of 300 through 425 days.
Results: In female mice, consumption of the WD diet showed long-term effects on LV structure and possible development of HFpEF-like phenotype with compensatory cardiac structural changes later in life.
Four COVID-19 screening strategies for early case identification within the homeless shelter population: a cluster randomized controlled trial.
BMC Infect Dis
December 2024
Department of Medicine, McMaster University, Hamilton, ON, Canada.
Background: To compare the effectiveness of four surveillance strategies for detecting SARS-CoV-2 within the homeless shelter population in Hamilton, ON and assess participant adherence over time for each surveillance method.
Methods: This was an open-label, cluster-randomized controlled trial conducted in eleven homeless shelters in Hamilton, Ontario, from April 2020 to January 2021. All participants who consented to the study and participated in the surveillance were eligible for testing by self-swabbing.
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