Background And Purpose: AV-1451 ( F-AV-1451, flortaucipir) positron emission tomography was performed in C9orf72 expansion carriers to assess tau accumulation and disease manifestation.
Methods: Nine clinically characterized C9orf72 expansion carriers and 18 age- and gender- matched cognitively normal individuals were psychometrically evaluated and underwent tau positron emission tomography imaging. The regional AV-1451 standard uptake value ratios from multiple brain regions were analyzed. Spearman correlation was performed to relate the AV-1451 standard uptake value ratio to clinical, psychometric and cerebrospinal fluid measures.
Results: C9orf72 expansion carriers had increased AV-1451 binding in the entorhinal cortex compared to controls. Primary age-related tauopathy was observed postmortem in one patient. AV-1451 uptake did not correlate with clinical severity, disease duration, psychometric performance or cerebrospinal fluid markers.
Conclusion: C9orf72 expansion carriers exhibited increased AV-1451 uptake in entorhinal cortex compared to cognitively normal controls, suggesting a propensity for primary age-related tauopathy. However, AV-1451 accumulation was not associated with psychometric performance in our cohort.
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http://dx.doi.org/10.1111/ene.13940 | DOI Listing |
Neurology
February 2025
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, the Netherlands.
Background And Objectives: Identifying genetic causes of dementia in patients visiting memory clinics is important for patient care and family planning. Traditional clinical selection criteria for genetic testing may miss carriers of pathogenic variants in dementia-related genes. This study aimed identify how many carriers we are missing and to optimize criteria for selecting patients for genetic counseling in memory clinics.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder that causes a range of developmental problems including cognitive and behavioral impairment and learning disabilities. FXS is caused by full mutations (FM) of the gene expansions to over 200 repeats, with hypermethylation of the cytosine-guanine-guanine (CGG) tandem repeated region in its promoter, resulting in transcriptional silencing and loss of gene function. Female carriers of FM are typically less impaired than males.
View Article and Find Full Text PDFMicromachines (Basel)
December 2024
State Key Discipline Laboratory of Wide Band Gap Semiconductor Technology, Xidian University, Xi'an 710071, China.
In this study, we aim to enhance the internal quantum efficiency (IQE) of AlGaN-based ultraviolet (UV) light-emitting diodes (LEDs) by using the short-period AlGaN/GaN superlattice as a tunnel junction (TJ) to construct polarized structures. We analyze in detail the effect of this polarized TJ on the carrier injection efficiency and investigate the increase in hole and electron density caused by the formation of 2D hole gas (2DHG) and 2D electron gas (2DEG) in the superlattice structure. In addition, a dielectric layer is introduced to evaluate the effect of stress changes on the tunneling probability and current spread in TJ.
View Article and Find Full Text PDFHered Cancer Clin Pract
January 2025
Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.
Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.
View Article and Find Full Text PDFCarbohydr Polym
March 2025
College of Biological and Food Engineering, Anhui Polytechnic University, Wuhu 241000, Anhui-, China; Wuhu Green Food Industrial Research Institute Co., Ltd., Wuhu 241000, Anhui- China. Electronic address:
The study involves the modification of a non-conventional starch isolated from the under-utilized variety of Chinese water chestnut (CWC (Eleocharis tuberosa) and integrating it to fabricate stabilized and curcumin-enriched Pickering emulsions with enhanced bioavailability, thermal stability, and retention of encapsulated curcumin. A time-efficient, semi-dried esterification method was used to prepare modified amphiphilic starches using 3, 6, or 9 % (w/v) octenyl succinic anhydride (OSA) and characterized through degree of substitution (DS), contact angle, particle size, scanning electron microscopy (SEM), X-ray diffraction (XRD), Fourier-transform infrared spectroscopy (FTIR), and in-vitro digestibility. Moreover, Pickering emulsions were formulated using CWCS-OSA at 3 %, 6 %, or 9 % concentrations to serve as a carrier for curcumin to improve its water solubility and storage stability.
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