Bone mineral density in patients on home parenteral nutrition: a follow-up study.

Home artificial nutrition

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms. Overlapping deletions previously found by traditional and/or molecular cytogenetic analysis allowed to define some critical regions for intellectual disability (ID) and multiple congenital anomalies, with key candidate genes. In the present study, using array-CGH, we characterized seven new patients with interstitial 13q deletion involving RB1. Among these cases, three patients with medium or large 13q deletions did not present psychomotor delay. This allowed defining a minimal critical region for ID that excludes the previously suggested candidate genes (HTR2A, NUFIP1, PCDH8, and PCDH17). The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay. In addition, MAB21L1, DCLK1, EXOSC8, and SPART haploinsufficiency might contribute to the observed impaired neurodevelopmental phenotype. In conclusion, this study adds important novelties to the 13q deletion syndrome, although further studies are needed to better characterize the contribution of different genes and to understand how the haploinsufficiency of this region can determine ID. © 2021 by the authors. Licensee MDPI, Basel, Switzerland

Fluid-structure interaction simulation of prosthetic aortic valves : comparison between immersed boundary and arbitrary Lagrangian-Eulerian techniques for the mesh representation

In recent years the role of FSI (fluid-structure interaction) simulations in the analysis of the fluid-mechanics of heart valves is becoming more and more important, being able to capture the interaction between the blood and both the surrounding biological tissues and the valve itself. When setting up an FSI simulation, several choices have to be made to select the most suitable approach for the case of interest: in particular, to simulate flexible leaflet cardiac valves, the type of discretization of the fluid domain is crucial, which can be described with an ALE (Arbitrary Lagrangian-Eulerian) or an Eulerian formulation. The majority of the reported 3D heart valve FSI simulations are performed with the Eulerian formulation, allowing for large deformations of the domains without compromising the quality of the fluid grid. Nevertheless, it is known that the ALE-FSI approach guarantees more accurate results at the interface between the solid and the fluid. The goal of this paper is to describe the same aortic valve model in the two cases, comparing the performances of an ALE-based FSI solution and an Eulerian-based FSI approach. After a first simplified 2D case, the aortic geometry was considered in a full 3D set-up. The model was kept as similar as possible in the two settings, to better compare the simulations' outcomes. Although for the 2D case the differences were unsubstantial, in our experience the performance of a full 3D ALE-FSI simulation was significantly limited by the technical problems and requirements inherent to the ALE formulation, mainly related to the mesh motion and deformation of the fluid domain. As a secondary outcome of this work, it is important to point out that the choice of the solver also influenced the reliability of the final results

Prognostic relevance of a T-type calcium channels gene signature in solid tumours: A correlation ready for clinical validation

BackgroundT-type calcium channels (TTCCs) mediate calcium influx across the cell membrane. TTCCs regulate numerous physiological processes including cardiac pacemaking and neuronal activity. In addition, they have been implicated in the proliferation, migration and differentiation of tumour tissues. Although the signalling events downstream of TTCC-mediated calcium influx are not fully elucidated, it is clear that variations in the expression of TTCCs promote tumour formation and hinder response to treatment.MethodsWe examined the expression of TTCC genes (all three subtypes; CACNA-1G, CACNA-1H and CACNA-1I) and their prognostic value in three major solid tumours (i.e. gastric, lung and ovarian cancers) via a publicly accessible database.ResultsIn gastric cancer, expression of all the CACNA genes was associated with overall survival (OS) among stage I-IV patients (all pConclusionsAlterations in CACNA gene expression are linked to tumour prognosis. Gastric cancer represents the most promising setting for further evaluation

Upon oxidative stress, the antiapoptotic Hsp60/procaspase-3 complex persists in mucoepidermoid carcinoma cells.

Hsp60, a mitochondrial chaperonin highly conserved during evolution, has been found elevated in the cytosol of cancer cells, both in vivo and in vitro, but its role in determining apoptosis during oxidative stress (OS) has not yet been fully elucidated. The aim of the present work was to study the effects of OS on Hsp60 levels and its interactions with procaspase- 3 (p-C3) and p53 in tumor cells. NCI-H292 (mucoepidermoid carcinoma) cells were exposed to various concentrations of hydrogen peroxide (H2O2) for 24 hours. Cell viability was determined by Trypan blue and MTT assays. DNA damage was assessed by the Comet assay, and apoptosis was measured by the AnnexinV cytofluorimetric test. Exposure to increasing concentrations of H2O2 resulted in a reduction of cell viability, DNA damage, and early apoptotic phenomena. Hsp60, p-C3, p53, and p21 were assessed by Western blotting and immunocytochemistry before and after OS. Hsp60 and p-C3 were present before and after OS induction. Immunoprecipitation experiments showed an Hsp60/p-C3 complex before OS that persisted after it, while an Hsp60/p53 complex was not detected in either condition. The presence of wild type (wt) p53 was confirmed by RT-PCR, and p21 detection suggested p53 activation after OS. We postulate that, although OS may induce early apoptosis in NCI-H292 cells, Hsp60 exerts an anti-apoptotic effect in these cells and, by extension, it may do so in other cancer cell

Post-bronchoscopy fatal endobronchial hemorrhage in a woman with bronchopulmonary mucormycosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>During infection, Mucorales fungi invade major blood vessels, leading to extensive necrosis, and in cases of extensive pulmonary disease, bleeding into the lungs may occur.</p> <p>Case presentation</p> <p>We report an unexpected event of post-bronchoscopy fatal endobronchial hemorrhage in a 62-year-old HIV-negative Italian woman with well controlled diabetes mellitus who presented with diffuse cavitated pulmonary lesions. Fiberoptic bronchoscopy revealed bilateral obstruction of the segmental bronchi. Fatal massive bleeding occurred after standard biopsy procedures. Histologic examination showed that the hyphae were more deeply colored by hematoxylin-eosin (H&E) than by other stains for fungi. Culture and autopsy confirmed bronchopulmonary mucormycosis.</p> <p>Conclusion</p> <p>Infection by Mucorales fungi should be considered in the diabetes population regardless of the degree of metabolic control. In these patients, particular caution should be taken during bronchoscopic procedures because of the greater friability of the fungal lesions.</p

p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray data

<p>Abstract</p> <p>Background</p> <p>The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, angiogenesis, development and differentiation. These genes encode sequence-specific nuclear transcription factors that recognise the same responsive element (RE) in their target genes. Their inactivation or aberrant expression may determine tumour progression or developmental disease. The discovery of several protein isoforms with antagonistic roles, which are produced by the expression of different promoters and alternative splicing, widened the complexity of the scenario of the transcriptional network of the p53 family members. Therefore, the identification of the genes transactivated by p53 family members is crucial to understand the specific role for each gene in cell cycle regulation. We have combined a genome-wide computational search of p53 family REs and microarray analysis to identify new direct target genes. The huge amount of biological data produced has generated a critical need for bioinformatic tools able to manage and integrate such data and facilitate their retrieval and analysis.</p> <p>Description</p> <p>We have developed the p53FamTaG database (p53 FAMily TArget Genes), a modular relational database, which contains p53 family direct target genes selected in the human genome searching for the presence of the REs and the expression profile of these target genes obtained by microarray experiments. p53FamTaG database also contains annotations of publicly available databases and links to other experimental data.</p> <p>The genome-wide computational search of the REs was performed using PatSearch, a pattern-matching program implemented in the DNAfan tool. These data were integrated with the microarray results we produced from the overexpression of different isoforms of p53, p63 and p73 stably transfected in isogenic cell lines, allowing the comparative study of the transcriptional activity of all the proteins in the same cellular background.</p> <p>p53FamTaG database is available free at <url>http://www2.ba.itb.cnr.it/p53FamTaG/</url></p> <p>Conclusion</p> <p>p53FamTaG represents a unique integrated resource of human direct p53 family target genes that is extensively annotated and provides the users with an efficient query/retrieval system which displays the results of our microarray experiments and allows the export of RE sequences. The database was developed for supporting and integrating high-throughput <it>in silico</it> and experimental analyses and represents an important reference source of knowledge for research groups involved in the field of oncogenesis, apoptosis and cell cycle regulation.</p

Growth, sensory and chemical characterization of Mediterranean yellowtail (Seriola dumerili) fed diets with partial replacement of fish meal by other protein sources

[EN] An 84-day trial was performed to assess the use of alternative protein sources in Seriola dumerili. Three diets were used, FM100 diet, as a control diet without fishmeal substitution, and FM66 and FM33 diets with a fishmeal replacement of 330 g/kg and 660 g/kg, respectively. At the end of experiment, fish fed the FM66 diet showed the no differences in growth, nutritional parameters and fatty acid composition. Heavy metals present some differences but are always lower than risk levels. In sensory analysis, differences between diets appeared in pH and color, and also in some texture parameters between FM33 and the other two diets. No differences appeared between diets related to flavor. In summary, long periods of feeding with high fish meal substitution diets, affects Seriola dumerili growth; despite this the quality of the fillet was not affected even with a 66 % of substitution.This project was financed by "Generalitat Valenciana. Ayudas para grupos de investigacion consolidables."Monge-Ortiz, R.; Martínez-Llorens, S.; Lemos-Neto, M.; Falco, S.; Pagán Moreno, MJ.; Godoy-Olmos, S.; Jover Cerda, M.... (2020). Growth, sensory and chemical characterization of Mediterranean yellowtail (Seriola dumerili) fed diets with partial replacement of fish meal by other protein sources. Aquaculture Reports. 18:1-10. https://doi.org/10.1016/j.aqrep.2020.100466S11018Abbas, K. A., Mohamed, A., Jamilah, B., & Ebrahimian, M. (2008). A Review on Correlations between Fish Freshness and pH during Cold Storage. American Journal of Biochemistry and Biotechnology, 4(4), 416-421. doi:10.3844/ajbbsp.2008.416.421Álvarez, A., García García, B., Garrido, M. D., & Hernández, M. D. (2008). The influence of starvation time prior to slaughter on the quality of commercial-sized gilthead seabream (Sparus aurata) during ice storage. 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Impact of Fishmeal Replacement in Diets for Gilthead Sea Bream (Sparus aurata) on the Gastrointestinal Microbiota Determined by Pyrosequencing the 16S rRNA Gene. PLOS ONE, 10(8), e0136389. doi:10.1371/journal.pone.0136389Estruch, G., Collado, M. C., Monge-Ortiz, R., Tomás-Vidal, A., Jover-Cerdá, M., Peñaranda, D. S., … Martínez-Llorens, S. (2018). Long-term feeding with high plant protein based diets in gilthead seabream (Sparus aurata, L.) leads to changes in the inflammatory and immune related gene expression at intestinal level. BMC Veterinary Research, 14(1). doi:10.1186/s12917-018-1626-6Estruch, G., Tomás-Vidal, A., El Nokrashy, A. M., Monge-Ortiz, R., Godoy-Olmos, S., Jover Cerdá, M., & Martínez-Llorens, S. (2018). Inclusion of alternative marine by-products in aquafeeds with different levels of plant-based sources for on-growing gilthead sea bream (Sparus aurata, L.): effects on digestibility, amino acid retention, ammonia excretion and enzyme activity. Archives of Animal Nutrition, 72(4), 321-339. doi:10.1080/1745039x.2018.1472408Estruch, G., Martínez-Llorens, S., Tomás-Vidal, A., Monge-Ortiz, R., Jover-Cerdá, M., Brown, P. B., & Peñaranda, D. S. (2020). Impact of high dietary plant protein with or without marine ingredients in gut mucosa proteome of gilthead seabream (Sparus aurata, L.). Journal of Proteomics, 216, 103672. doi:10.1016/j.jprot.2020.103672Fountoulaki, E., Vasilaki, A., Hurtado, R., Grigorakis, K., Karacostas, I., Nengas, I., … Alexis, M. N. (2009). Fish oil substitution by vegetable oils in commercial diets for gilthead sea bream (Sparus aurata L.); effects on growth performance, flesh quality and fillet fatty acid profile. Aquaculture, 289(3-4), 317-326. doi:10.1016/j.aquaculture.2009.01.023Francis, G., Makkar, H. P. ., & Becker, K. (2001). Antinutritional factors present in plant-derived alternate fish feed ingredients and their effects in fish. Aquaculture, 199(3-4), 197-227. doi:10.1016/s0044-8486(01)00526-9Korkmaz Görür, F., Keser, R., Akçay, N., & Dizman, S. (2012). Radioactivity and heavy metal concentrations of some commercial fish species consumed in the Black Sea Region of Turkey. Chemosphere, 87(4), 356-361. doi:10.1016/j.chemosphere.2011.12.022Hu, L., Yun, B., Xue, M., Wang, J., Wu, X., Zheng, Y., & Han, F. (2013). Effects of fish meal quality and fish meal substitution by animal protein blend on growth performance, flesh quality and liver histology of Japanese seabass (Lateolabrax japonicus). Aquaculture, 372-375, 52-61. doi:10.1016/j.aquaculture.2012.10.025Izquierdo, M. S., Obach, A., Arantzamendi, L., Montero, D., Robaina, L., & Rosenlund, G. (2003). Dietary lipid sources for seabream and seabass: growth performance, tissue composition and flesh quality. Aquaculture Nutrition, 9(6), 397-407. doi:10.1046/j.1365-2095.2003.00270.xIzquierdo, M. S., Montero, D., Robaina, L., Caballero, M. J., Rosenlund, G., & Ginés, R. (2005). Alterations in fillet fatty acid profile and flesh quality in gilthead seabream (Sparus aurata) fed vegetable oils for a long term period. Recovery of fatty acid profiles by fish oil feeding. Aquaculture, 250(1-2), 431-444. doi:10.1016/j.aquaculture.2004.12.001Jover, M., Garcı́a-Gómez, A., Tomás, A., De la Gándara, F., & Pérez, L. (1999). Growth of mediterranean yellowtail (Seriola dumerilii) fed extruded diets containing different levels of protein and lipid. Aquaculture, 179(1-4), 25-33. doi:10.1016/s0044-8486(99)00149-0Martínez-Llorens, S., Baeza-Ariño, R., Nogales-Mérida, S., Jover-Cerdá, M., & Tomás-Vidal, A. (2012). Carob seed germ meal as a partial substitute in gilthead sea bream (Sparus aurata) diets: Amino acid retention, digestibility, gut and liver histology. Aquaculture, 338-341, 124-133. doi:10.1016/j.aquaculture.2012.01.029MARTINS, D. A., VALENTE, L. M. P., & LALL, S. P. (2011). 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A., Jover-Cerdá, M., & Lorenzo, A. (2017). Replacement of fish oil with vegetable oil blends in feeds for greater amberjack (Seriola dumerili) juveniles: Effect on growth performance, feed efficiency, tissue fatty acid composition and flesh nutritional value. Aquaculture Nutrition, 24(1), 605-615. doi:10.1111/anu.12595Mourente, G., & Bell, J. G. (2006). Partial replacement of dietary fish oil with blends of vegetable oils (rapeseed, linseed and palm oils) in diets for European sea bass (Dicentrarchus labrax L.) over a long term growth study: Effects on muscle and liver fatty acid composition and effectiveness of a fish oil finishing diet. Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 145(3-4), 389-399. doi:10.1016/j.cbpb.2006.08.012Nanton, D. A., Vegusdal, A., Rørå, A. M. B., Ruyter, B., Baeverfjord, G., & Torstensen, B. E. (2007). Muscle lipid storage pattern, composition, and adipocyte distribution in different parts of Atlantic salmon (Salmo salar) fed fish oil and vegetable oil. Aquaculture, 265(1-4), 230-243. doi:10.1016/j.aquaculture.2006.03.053O’Fallon, J. V., Busboom, J. R., Nelson, M. L., & Gaskins, C. T. (2007). A direct method for fatty acid methyl ester synthesis: Application to wet meat tissues, oils, and feedstuffs. Journal of Animal Science, 85(6), 1511-1521. doi:10.2527/jas.2006-491Olsen, R. L., & Toppe, J. (2017). Fish silage hydrolysates: Not only a feed nutrient, but also a useful feed additive. Trends in Food Science & Technology, 66, 93-97. doi:10.1016/j.tifs.2017.06.003De Paiva, E. L., Alves, J. C., Milani, R. F., Boer, B. S., Quintaes, K. D., & Morgano, M. A. (2016). Sushi commercialized in Brazil: Organic Hg levels and exposure intake evaluation. Food Control, 69, 115-123. doi:10.1016/j.foodcont.2016.04.029Panserat, S., Hortopan, G. A., Plagnes-Juan, E., Kolditz, C., Lansard, M., Skiba-Cassy, S., … Corraze, G. (2009). Differential gene expression after total replacement of dietary fish meal and fish oil by plant products in rainbow trout (Oncorhynchus mykiss) liver. Aquaculture, 294(1-2), 123-131. doi:10.1016/j.aquaculture.2009.05.013Piazzon, M. C., Calduch-Giner, J. A., Fouz, B., Estensoro, I., Simó-Mirabet, P., Puyalto, M., … Pérez-Sánchez, J. (2017). Under control: how a dietary additive can restore the gut microbiome and proteomic profile, and improve disease resilience in a marine teleostean fish fed vegetable diets. Microbiome, 5(1). doi:10.1186/s40168-017-0390-3Regost, C., Arzel, J., Robin, J., Rosenlund, G., & Kaushik, S. . (2003). Total replacement of fish oil by soybean or linseed oil with a return to fish oil in turbot (Psetta maxima). Aquaculture, 217(1-4), 465-482. doi:10.1016/s0044-8486(02)00259-4Robaina, L., Izquierdo, M. ., Moyano, F. ., Socorro, J., Vergara, J. ., & Montero, D. (1998). Increase of the dietary n−3/n−6 fatty acid ratio and addition of phosphorus improves liver histological alterations induced by feeding diets containing soybean meal to gilthead seabream, Sparus aurata. Aquaculture, 161(1-4), 281-293. doi:10.1016/s0044-8486(97)00276-7Serradell, A., Torrecillas, S., Makol, A., Valdenegro, V., Fernández-Montero, A., Acosta, F., … Montero, D. (2020). Prebiotics and phytogenics functional additives in low fish meal and fish oil based diets for European sea bass (Dicentrarchus labrax): Effects on stress and immune responses. Fish & Shellfish Immunology, 100, 219-229. doi:10.1016/j.fsi.2020.03.016Shimeno, S., Masumoto, T., Hujita, T., Mima, T., & Ueno, S. (1993). Protein Source for Fish Feed-V. Alternative Protein Sources for Fish Meal in Diets of Young Yellowtail. NIPPON SUISAN GAKKAISHI, 59(1), 137-143. doi:10.2331/suisan.59.137Sitjà-Bobadilla, A., Peña-Llopis, S., Gómez-Requeni, P., Médale, F., Kaushik, S., & Pérez-Sánchez, J. (2005). Effect of fish meal replacement by plant protein sources on non-specific defence mechanisms and oxidative stress in gilthead sea bream (Sparus aurata). Aquaculture, 249(1-4), 387-400. doi:10.1016/j.aquaculture.2005.03.031SLOTH, J. J., JULSHAMN, K., & LUNDEBYE, A.-K. (2005). Total arsenic and inorganic arsenic content in Norwegian fish feed products. Aquaculture Nutrition, 11(1), 61-66. doi:10.1111/j.1365-2095.2004.00334.xStergiou, K. I., & Karpouzi, V. S. (2001). Reviews in Fish Biology and Fisheries, 11(3), 217-254. doi:10.1023/a:1020556722822Thakur, D. P., Morioka, K., Itoh, N., Wada, M., & Itoh, Y. (2009). Muscle biochemical constituents of cultured amberjack Seriola dumerili and their influence on raw meat texture. Fisheries Science, 75(6), 1489-1498. doi:10.1007/s12562-009-0173-2TOMAS, A., DE LA GANDARA, F., GARCIA-GOMEZ, A., PEREZ, L., & JOVER, M. (2005). Utilization of soybean meal as an alternative protein source in the Mediterranean yellowtail, Seriola dumerili. 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Food Chemistry, 102(4), 1144-1155. doi:10.1016/j.foodchem.2006.07.003Valente, L. M. P., Linares, F., Villanueva, J. L. R., Silva, J. M. G., Espe, M., Escórcio, C., … Peleteiro, J. B. (2011). Dietary protein source or energy levels have no major impact on growth performance, nutrient utilisation or flesh fatty acids composition of market-sized Senegalese sole. Aquaculture, 318(1-2), 128-137. doi:10.1016/j.aquaculture.2011.05.026Watanabe, K., Ura, K., Yada, T., Kiron, V., Satoh, S., & Watanabe, T. (2000). Energy and protein requirements of yellowtail for maximum growth and maintenance of body weight. Fisheries Science, 66(6), 1053-1061. doi:10.1046/j.1444-2906.2000.00168.