A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a -Associated Neurodevelopmental Syndrome.

Variants in membrane trafficking proteins are known to cause rare disorders with severe symptoms. The highly conserved transport protein particle (TRAPP) complexes are key membrane trafficking regulators that are also involved in autophagy. Pathogenic genetic variants in specific TRAPP subunits are linked to neurological disorders, muscular dystrophies, and skeletal dysplasias.

Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease.

TANGO2 deficiency disease (TDD) is a multisystem disease caused by variants in the TANGO2 gene. Symptoms include neurodevelopmental delays, seizures and potentially lethal metabolic crises and cardiac arrhythmias. While the function of TANGO2 remains elusive, vitamin B5/pantothenic acid supplementation has been shown to alleviate symptoms in a fruit fly model and has also been used with success to treat individuals suffering from TDD.

Pilot Study on the Development and Integration of Anthropomorphic Models within the Dental Technician Curriculum.

The effectiveness of modern medical education largely depends on the integration and utilization of digital technologies in teaching various disciplines. In this pilot usability study, we introduced 3D printed anthropomorphic dental models, specifically designed for the elective discipline "Digital and Metal-Free Techniques in Dental Technology" from the curriculum of the Dental Technician specialty in the Medical University of Varna. The evaluation focused on dental technician students' perception of this novel learning environment, its influence on their performance, and the potential for future application of these models and related 3D technologies in their professional practice.

Interdisciplinary Successful Revascularization of Traumatic Occlusion of the Right Common Carotid Artery.

Blunt carotid artery injury (BCI) poses a rare yet severe threat following vascular trauma, often leading to significant morbidity and mortality. We present a case of a 33-year-old male who suffered complete thrombotic occlusion of the right common carotid artery (CCA) following a workplace accident. Clinical evaluation revealed profound neurological deficits, prompting multidisciplinary surgical intervention guided by the Denver criteria (Grade I - disruption inside the vessel that results in a narrowing of the lumen by less than 25%; Grade II - dissection or intramural hematoma causing greater than 25% stenosis; Grade III - comprises pseudoaneurysm formation; Grade IV - causes total vessel occlusion; Grade V - describes vessel transection with extravasation).

The Evaluation of Virtual Reality Neuroanatomical Training Utilizing Photorealistic 3D Models in Limited Body Donation Program Settings.

Background Neuroanatomy is one of the most complex areas of anatomy to teach to medical students. Traditional study methods such as atlases and textbooks are mandatory but require significant effort to conceptualize the three-dimensional (3D) aspects of the neuroanatomical regions of interest. Objectives To test the feasibility of human anatomy teaching medical students in a virtual reality (VR) immersive environment using photorealistic three-dimensional models (PR3DM) of human anatomy, in a limited anatomical body donation program.