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1.
Ann Vasc Surg ; 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38942370

RESUMO

OBJECTIVES: Endovascular aortic repair requires extensive preoperative, intraoperative, and postoperative imaging for planning, surveillance, and detection of endo-leaks. There have been many advancements in imaging modalities to achieve this purpose. This review discussed different imaging modalities used at different stages of treatment of complex endovascular aortic repair. METHODS: We conducted a literature review of all the imaging modalities utilized in endovascular aortic repair by searching various databases. RESULTS: Pre-operative techniques include analysis of images obtained via modified central line using analysis software and intravascular ultrasound. Fusion imaging, CO2 angiography, intravascular ultrasound, and Fiber Optic RealShape technology have been crucial in obtaining real-time imaging for the detection of endo-leaks during operative procedures. Conventional imaging modalities like CT Angiography and MR Angiography are still employed for post-operative surveillance along with computational fluid dynamics and contrast-enhanced ultrasound. The advancements in artificial intelligence have been the breakthrough in developing robust imaging applications. CONCLUSIONS: This review explains the advantages, disadvantages, and side-effect profile of the abovementioned imaging modalities.

2.
MicroPubl Biol ; 20232023.
Artigo em Inglês | MEDLINE | ID: mdl-37637270

RESUMO

Melanophilin is a myosin adaptor required for transporting the pigment melanin within cells. Loss of melanophilin in fish, birds, and mammals causes pigmentation defects, but little is known about the role of melanophilin in non-avian reptiles. Here we show that a frameshift in the melanophilin gene in ball python ( P. regius ) is associated with loss of pigment from shed skin. This variant is predicted to remove the myosin-binding domain of melanophilin and thereby impair transport of melanin-containing organelles. Our study represents the first description of a melanophilin variant in a non-avian reptile and confirms the role of melanophilin across vertebrates.

3.
G3 (Bethesda) ; 13(7)2023 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-37191439

RESUMO

Color patterns in nonavian reptiles are beautifully diverse, but little is known about the genetics and development of these patterns. Here, we investigated color patterning in pet ball pythons (Python regius), which have been bred to show color phenotypes that differ dramatically from the wildtype form. We report that several color phenotypes in pet animals are associated with putative loss-of-function variants in the gene encoding endothelin receptor EDNRB1: (1) frameshift variants in EDNRB1 are associated with conversion of the normal mottled color pattern to skin that is almost fully white, (2) missense variants affecting conserved sites of the EDNRB1 protein are associated with dorsal, longitudinal stripes, and (3) substitutions at EDNRB1 splice donors are associated with subtle changes in patterning compared to wildtype. We propose that these phenotypes are caused by loss of specialized color cells (chromatophores), with loss ranging from severe (fully white) to moderate (dorsal striping) to mild (subtle changes in patterning). Our study is the first to describe variants affecting endothelin signaling in a nonavian reptile and suggests that reductions in endothelin signaling in ball pythons can produce a variety of color phenotypes, depending on the degree of color cell loss.


Assuntos
Boidae , Animais , Mutação de Sentido Incorreto , Endotelinas
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