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Prion Protein Endoproteolysis: Cleavage Sites, Mechanisms and Connections to Prion Disease.
J Neurochem
January 2025
Centre for Prions and Protein Folding Diseases, University of Alberta, Edmonton, Canada.
Highly abundant in neurons, the cellular prion protein (PrP) is an obligatory precursor to the disease-associated misfolded isoform denoted PrP that accumulates in the rare neurodegenerative disorders referred to either as transmissible spongiform encephalopathies (TSEs) or as prion diseases. The ability of PrP to serve as a substrate for this template-mediated conversion process depends on several criteria but importantly includes the presence or absence of certain endoproteolytic events performed at the cell surface or in acidic endolysosomal compartments. The major endoproteolytic events affecting PrP are referred to as α- and β-cleavages, and in this review we outline the sites within PrP at which the cleavages occur, the mechanisms potentially responsible and their relevance to pathology.
View Article and Find Full Text PDFDouble Cystic Artery Originating From the Superior Mesenteric Artery and Right Hepatic Artery: A Case Report.
Cureus
December 2024
Medicine, Griffith University, Gold Coast, AUS.
The cystic artery is a critical anatomical landmark in both laparoscopic and open cholecystectomy. This report presents a unique case involving two rare anatomical variations: double cystic arteries, along with a superficial branch originating from the superior mesenteric artery (SMA) - a previously unreported combination with significant clinical and surgical implications. Unlike earlier studies, this research provides detailed anatomical and embryological insights supported by high-quality imaging and illustrations to guide surgeons in recognizing and managing this novel variation.
View Article and Find Full Text PDFEndoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.
J Clin Med
January 2025
Department of Surgery IV, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 38 Gheorghe Marinescu Street, 540139 Targu Mures, Romania.
: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy.
View Article and Find Full Text PDFUnique Subclavian Vascular Ring Anomaly: Insights from CT Angiography.
Life (Basel)
January 2025
Clinical Laboratory of Radiology and Medical Imaging, "Sf. Apostol Andrei" County Emergency Hospital, 900591 Constanta, Romania.
Aortic arch anomalies represent a range of congenital vascular malformations resulting from disruptions in the typical embryological development of the aortic arch and its branches. These anomalies, which vary widely in their presentation, can lead to significant clinical symptoms depending on their structure and position. We report the case of a 75-year-old male with intermittent hypertension, palpitations, and episodic warmth in the upper body.
View Article and Find Full Text PDFPhenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs.
Children (Basel)
January 2025
Genetics and Molecular Biology Research Unit, Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, Brazil.
Introduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W), in a concave shape (C), episodes of dislocations, and subluxations, suggest impacts on body mechanics since childhood, with damage to the conformation of the joints.
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