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1.
Mol Biol Evol ; 39(9)2022 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-36103257

RESUMEN

Large-scale comparative genomics- and population genetic studies generate enormous amounts of polymorphism data in the form of DNA variants. Ultimately, the goal of many of these studies is to associate genetic variants to phenotypes or fitness. We introduce VIVID, an interactive, user-friendly web application that integrates a wide range of approaches for encoding genotypic to phenotypic information in any organism or disease, from an individual or population, in three-dimensional (3D) space. It allows mutation mapping and annotation, calculation of interactions and conservation scores, prediction of harmful effects, analysis of diversity and selection, and 3D visualization of genotypic information encoded in Variant Call Format on AlphaFold2 protein models. VIVID enables the rapid assessment of genes of interest in the study of adaptive evolution and the genetic load, and it helps prioritizing targets for experimental validation. We demonstrate the utility of VIVID by exploring the evolutionary genetics of the parasitic protist Plasmodium falciparum, revealing geographic variation in the signature of balancing selection in potential targets of functional antibodies.


Asunto(s)
Genómica , Programas Informáticos , Genómica/métodos , Genotipo , Fenotipo , Polimorfismo Genético
2.
Indian J Otolaryngol Head Neck Surg ; 74(Suppl 3): 4525-4532, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36742694

RESUMEN

Nasopharynx is a complex region situated at the center of skull surrounded by various vital neurovascular structures. Surgical access to the nasopharyngeal space poses significant challenges due to the position of the internal carotid artery (ICA). Open approaches to nasopharynx utilize the lateral to medial anatomy but the endoscopic endo-nasal approach warrants knowledge about the medial to lateral anatomy. In this study we attempted to find the consistent surgical landmarks for parapharyngeal portion of internal carotid artery at the level of nasopharynx by means of cadaveric and radiological study. Eight fresh frozen cadavers (16 sides) and 30 CT angiography (60 sides) were included in the anatomical and radiological study respectively. Superior aspect of the torus tubarius was taken as the reference point in cadaveric study and C1-C2 interspace was used as the reference point for the radiological study. The distance between the ICA to the landmarks such as fossa of Rosenmullaer, torus tubarius, medial and lateral pterygoid plates were recorded. The mean distance of ICA to the fossa of Rosenmuller was 8.5 ± 1.4 mm and 9.1 ± 1.1 mm in the cadaveric and radiological study respectively. The mean distance between ICA to torus tubarius was 19.8 ± 1.3 mm in cadaveric and 20.6 ± 1.0 mm in radiological study. The mean distance of ICA to medial and lateral pterygoid plates were 25.3 ± 1.4 mm and 18.2 ± 1.4 mm in the cadaveric study and 25.9 ± 1.2 mm and 18.8 ± 1.3 mm in the radiological study respectively. On correlating the measurements between cadaveric and radiological study, the p values were not statistically significant (p > 0.05). The closest landmark to the ICA was the fossa of Rosenmuller. ICA was located at the same sagittal plane as that of the lateral pterygoid plate. The nasopharynx is a complex anatomical region closely related to ICA. Inadvertent injury to ICA is one of the dreaded complications of nasopharyngeal surgery. Fossa of Rosenmuller is only few millimeters away from the ICA and must be treated very cautiously. During the endoscopic approach, the ICA is at the sagittal plane as of the lateral pterygoid plate. This must be kept in mind when advancing toward the ICA by keeping intact the lateral pterygoid plate when possible and one should stay in the plane of medial pterygoid plate as the ICA lies posterolateral to it. Cadaveric dissections supported by radiological data would definitely aid surgeons to successfully perform surgeries in nasopharynx.

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