PubMed · 5996020
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M J Vázquez. 1966-09-23. [Basic technics in arterial surgery].. https://pubmed.ncbi.nlm.nih.gov/5996020/
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Claudin-14 (CLDN14) is a key component of tight junctions (TJs) critical for maintaining paracellular barrier function. Variants of CLDN14 have been linked to Vein of Galen malformations (VOGMs), a rare cerebrovascular disorder; however, the molecular mechanisms underlying their pathogenicity remain unknown. Here, we investigate the mechanistic effects of two VOGM-associated mutations, A113P and V143M, using reinforcement-learning driven enhanced sampling molecular dynamics simulations combined with DiffNets-based deep learning and independent trajectory-wide structural analyses. Our analysis reveals that A113P induces broader structural disruption of CLDN14, perturbing paracellular sealing, pore symmetry, and inter-protomer communication, whereas V143M induces structural rearrangements centred around TM3 and the TM3-ECL2 region. In both cases, mutation-specific alterations are observed in structural stability and interfacial organization across oligomeric assemblies. Notably, these effects are qualitatively consistent across different modelled architectures, despite variability in local responses. In the absence of experimentally resolved structures, the structural perturbations reported here provide a mechanistic understanding of how VOGM-associated variants may influence CLDN14 structure and dynamics.
Aneurysms of the portal venous structures have rarely been reported. We present a case of a splenic vein aneurysm that appeared and regressed in parallel with splenic size during the course of a systemic infection in a patient with leukemia. The aneurysm was demonstrated with B-mode and color Doppler sonography and computed tomography. After appropriate therapy, the spleen diminished in size. This decrease was accompanied by regression of the aneurysm. Color Doppler sonography enables the noninvasive detection, diagnosis, and follow-up of splenic vein aneurysms.
Aneurysm of the celiac and/or superior mesenteric arteries are uncommon, accounting for 10% of visceral artery aneurysms. Aneurysms involving a common celiomesenteric trunk are extremely rare. Up to now only two cases have been reported. In this report we describe a saccular aneurysm originating from the bifurcation of a common celiomesenteric trunk. Treatment consisted of resection followed by suture of the aneurysmal neck. This anatomic variation of the visceral arteries probably resulted from a defect in embryonic development suggesting that the aneurysm was congenital in origin. Other etiologies of aneurysms in this location are atherosclerosis, infection, inflammation, and arterial dystrophy. These lesions are almost always surgical indications requiring complete angiographic study of the visceral vasculature.