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Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Orphanet J Rare Dis
December 2024
Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.
Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.
Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.
Maternal high glucose and fat diet exposure impaired vascular constriction via miR-325-3P/SHIP2/NOX2 pathway axis in offspring vessels.
Cell Mol Life Sci
December 2024
Institute for Fetology, The First Affiliated Hospital of Soochow University, Suzhou, 215006, China.
Background And Objectives: Maternal western-style diets that are high in glucose and fat have well-known cardiovascular effects on offspring, yet the combined influence of such diets during pregnancy is relatively less comprehended. This study investigates the impact of maternal high glucose and fat diet (HGF) on vascular constriction in offspring and the underlying mechanisms.
Methods And Results: Pregnant Sprague-Dawley rats were provided with either HGF or control diets.
Objective: Delays in discharges have a downstream effect on emergency department admissions, wait times, intensive care unit transfers, and elective admissions. This quality improvement project's aim was to increase the percentage of discharges before noon from a hospital medicine service from 19% to 30% over a 6-month period and sustain the increase for 6 months.
Methods: Interventions included introduction of a dedicated patient flow provider (PFP), optimization of workflow, technology assistance with discharge tasks, and multidisciplinary education on patient flow.
Association between maternal systemic lupus erythematosus and infant infection: a population-based cohort study in Sweden.
BMJ Open
December 2024
Department of Medicine Solna, Clinical Epidemiology Division, Karolinska Institutet, Stockholm, Sweden
Objectives: The objectives of the study are to investigate infection risk in offspring born to women with systemic lupus erythematosus (SLE) compared with offspring born to women without SLE and examine the mediating role of preterm birth.
Design: This is a register-based cohort study.
Setting: Liveborn singletons born in Sweden, 2006-2021, were included in the study.
Mechanistic insights of diabetic wound: Healing process, associated pathways and microRNA-based delivery systems.
Int J Pharm
December 2024
School of Studies in Biotechnology, Pt. Ravishankar Shukla University, Raipur 492 010, India. Electronic address:
Wounds that represent one of the most critical complications can occur in individuals suffering from diabetes mellitus, and results in the need for hospitalisation and, in severe cases, require amputation. This condition is primarily characterized by infections, persistent inflammation, and delayed healing processes, which exacerbate the overall health of the patients. As per the standard mechanism, signalling pathways such as PI3K/AKT, HIF-1, TGF-β, Notch, Wnt/β-Cat, NF-κB, JAK/STAT, TLR, and Nrf2 play major roles in inflammatory, proliferative and remodelling phases of wound healing.
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