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Work in many systems has shown large-scale changes in gene expression during aging. However, many studies employ just two, arbitrarily-chosen timepoints at which to measure expression, and can only observe an increase or a decrease in expression between "young" and "old" animals, failing to capture any dynamic, non-linear changes that occur throughout the aging process. We used RNA sequencing to measure expression in male head tissue at 15 timepoints through the lifespan of an inbred strain.
View Article and Find Full Text PDFIsolated loss of vaccine immunity in the protein losings syndrome in a patient with a reverse one and a half ventricle palliation ("failing Fontan-like physiology").
Cardiol Young
January 2025
Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University, Giessen, Germany.
Background: A subgroup of CHDs can only be treated palliatively through a Fontan circulation. In case of a failing Fontan situation, serum proteins are lost unspecifically and can also lead to a loss of vaccine antibodies. In a failing Fontan situation, heart transplantation may be the only feasible option.
View Article and Find Full Text PDFLong-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Orphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFThe role of inhibition in the processing of peripheral cues.
Psychol Res
January 2025
Institute of Cognition, Emotion, and Methods in Psychology, University of Vienna, Vienna, Austria.
The present study investigated the role of inhibition in peripheral cueing by nonpredictive cues. Based on past findings, we investigated the possibility that inhibition of learned irrelevant cue colors is typical of short cue-target intervals, with more competition for attention capture between cue versus target. In line with the expectation, in a modified contingent-capture protocol, with short cue-target intervals, we found same-location costs (SLCs) - that is, disadvantages for validly cued targets (cue = target position) compared to invalidly cued targets (cue ≠ target position) with consistently colored non-matching cues.
View Article and Find Full Text PDFComponent Mix-Match for Anatomic Total Shoulder Arthroplasty Revision: A Case Report.
Cureus
December 2024
Trauma and Orthopaedics, Northampton General Hospital, Northampton, GBR.
Although mixing and matching components is a common, safe, and well-documented practice in hip revision surgery, our extensive search indicates that it has not been previously reported for shoulder arthroplasty. This case report presents the use of mixed implants in shoulder revision surgery to reduce morbidity and address flaws in the initial implant design. We describe a case of a patient with multiple epiphyseal dysplasia who was treated for osteoarthritis in his left shoulder with an anatomic shoulder replacement in 2014.
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