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Feasibility and potential diagnostic value of [F]PI-2620 PET in patients with down syndrome and Alzheimer's disease: a case series.
Front Neurosci
January 2025
Department of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, Germany.
Purpose Of The Report: Adults with Down Syndrome (DS) have a substantially increased risk for Alzheimer's disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, tau PET assessments are not sufficiently implemented in DS-AD research or clinical work-up, and second-generation tau tracers such as [F]PI-2620 have not been thoroughly characterized in adults with DS. We aim at illustrating feasibility and potential diagnostic value of tau PET imaging with [F]PI-2620 for the diagnosis of DS-AD.
View Article and Find Full Text PDFEmbryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.
Int J Fertil Steril
January 2025
Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care.
View Article and Find Full Text PDFMale Down syndrome Ts65Dn mice have impaired bone regeneration.
Bone
March 2025
Department of Veterinary Physiology and Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843, United States of America. Electronic address:
Trisomy of human chromosome 21 (Ts21) individuals present with a spectrum of low bone mineral density (BMD) that predisposes this vulnerable group to skeletal injuries. To determine the bone regenerative capacity of Down syndrome (DS) mice, male and female Dp16 and Ts65Dn DS mice underwent amputation of the digit tip (the terminal phalanx (P3)). This is a well-established mammalian model of bone regeneration that restores the amputated skeletal segment and all associated soft tissues.
View Article and Find Full Text PDFIntegrated analysis of immunometabolic interactions in Down syndrome.
Sci Adv
December 2024
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Down syndrome (DS), caused by trisomy 21 (T21), results in immune and metabolic dysregulation. People with DS experience co-occurring conditions at higher rates than the euploid population. However, the interplay between immune and metabolic alterations and the clinical manifestations of DS are poorly understood.
View Article and Find Full Text PDF[Alzheimer's dementia in people with Down syndrome : Results of guideline-assisted expert interviews on healthcare deficits in the diagnostics and treatment as well as solution approaches].
Z Gerontol Geriatr
October 2024
Essener Forschungsinstitut für Medizinmanagement GmbH, EsFoMed, Essen, Deutschland.
Article Synopsis
- People with Down syndrome face a higher risk of early onset Alzheimer's, prompting a study to pinpoint issues in their healthcare from the perspectives of providers, patients, and facility staff.
- The study involved 14 interviews revealing that medical providers often lack knowledge and experience in treating individuals with Down syndrome, making dementia diagnosis particularly challenging.
- Proposed solutions include better training, caregiver involvement, medication reviews, and alternative treatment methods, which will be used to inform future health policy aimed at improving care for this population.
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