Familial amyloid polyneuropathy type I is a rare neurodegenerative disease characterised by early-onset and progressive peripheral sensorimotor and autonomic polyneuropathy. A pregnant woman with familial amyloid polyneuropathy type I presented with mild gastrointestinal, cardiac involvement and peripheral neuropathy, aggravated during the pregnancy. The caesarean delivery was performed under uneventful epidural anaesthesia. Anaesthesia of a pregnant woman with this condition can be challenging due to its multisystemic involvement and the possibility of further neurologic injury. This is one of the few cases of anaesthesia for caesarean section described in familial amyloid polyneuropathy type I patients. Given the possibility of similar cases, it is essential to disclose the anaesthetic management.
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http://dx.doi.org/10.7759/cureus.75033 | DOI Listing |
Alzheimers Dement
January 2025
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Introduction: Plasma-based biomarkers have shown promise for clinical implementation, but their accuracy in differentiating Alzheimer's disease (AD) from syndromes associated with frontotemporal lobar degeneration (FTLD) has yet to be fully investigated. This study assessed the potential of plasma biomarkers for differential diagnosis.
Methods: This cohort study included 374 participants (96 AD, 278 FTLD).
Pharmaceuticals (Basel)
December 2024
Department of Life Science, College of Science and General Studies, Alfaisal University, Riyadh 11533, Saudi Arabia.
The hallmark of Alzheimer's disease (AD) is the buildup of amyloid-β (Aβ), which is produced when the amyloid precursor protein (APP) misfolds and deposits as neurotoxic plaques in the brain. A functional iron responsive element (IRE) RNA stem loop is encoded by the APP 5'-UTR and may be a target for regulating the production of Alzheimer's amyloid precursor protein. Since modifying Aβ protein expression can give anti-amyloid efficacy and protective brain iron balance, targeted regulation of amyloid protein synthesis through modulation of 5'-UTR sequence function is a novel method for the prospective therapy of Alzheimer's disease.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Clinical and Biological Sciences, University of Turin, San Luigi Hospital, 10043 Orbassano, Italy.
Alzheimer's disease (AD) is a multifactorial neurodegenerative disease mainly caused by β-amyloid (Aβ) accumulation in the brain. Among the several factors that may concur to AD development, elevated cholesterol levels and brain cholesterol dyshomeostasis have been recognized to play a relevant role. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a protein primarily known to regulate plasma low-density lipoproteins (LDLs) rich in cholesterol and to be one of the main causes of familial hypercholesterolemia.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Institute of Cytology, Russian Academy of Sciences, St. Petersburg 194064, Russia.
G-protein-coupled receptors (GPCRs) have emerged as critical regulators of bone development and remodeling. In this study, we aimed to identify specific GPCR mutations in osteoporotic patients via next-generation sequencing (NGS). We performed NGS sequencing of six genomic DNA samples taken from osteoporotic patients and two genomic DNA samples from healthy donors.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
Fundeni Clinical Institute, 022328 Bucharest, Romania.
: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types.
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