RESUMO
Introducción: El síndrome de insensibilidad androgénica es un desorden genético y un tipo de trastorno del desarrollo sexual. Es la feminización de los genitales externos evaluados al nacimiento cuando el genotipo es 46, XY. Objetivo: Presentar la clínica, estudios moleculares, ultrasonidos durante el embarazo y del recién nacido con trastorno de diferenciación sexual. Caso Clínico: Femenina de 35 años con tercer embarazo, feto único, con resultado de cribado genético prenatal no invasivo ampliado de aneuploidías cromosómicas y determinación del sexo fetal a la semana 11 de gestación con sexo genético masculino, ultrasonido con ángulo del tubérculo genital de menos de 30° indicativo de sexo fenotípico femenino y ecografía postnatal con sexo gonadal masculino. Panel molecular genético con una variante patogénica para el Gen AR, en hemicigosis, asociado a Síndrome de Insensibilidad Androgénica. Conclusión: La discordancia sexual fenotipo-genotipo puede indicar una condición genética, cromosómica o bioquímica subyacente. El manejo conjunto interdisciplinario y el consejo genético permite el diagnóstico molecular neonatal temprano de la condición. (provisto por Infomedic International)
Introduction: Androgen insensitivity syndrome is a genetic disorder and a type of sexual development disorder. It is characterized by the evident feminization of the external genitalia at birth in an individual with the 46, XY genotype. Aim: To present the clinic, molecular studies, obstetric ultrasonography of the first trimester and ultrasound of the newborn with sexual differentiation disorder. Clinic case: 35-year-old female with third pregnancy, singleton fetus, with extended non-invasive prenatal genetic screening for chromosomal aneuploidies and fetal sex determination at week 11 of gestation with male genetic sex, ultrasound with genital tubercle angle less than 30° indicative of female phenotypic sex and postnatal ultrasound with male gonadal sex. Genetic molecular panel with a pathogenic variant for the AR gene, in hemi zygosis. Conclusion: Early detection of phenotype-genotype sexual discordance is important as it may indicate an underlying genetic, chromosomal, or biochemical condition, allowing timely critical counseling and postnatal treatment. (provided by Infomedic International)
RESUMO
Resumen El lactosuero posee una gran cantidad de los componentes de la leche, sin embargo, una alta proporción del volumen generado se sigue tirando, provocando pérdida de nutrientes y problemas de contaminación. El objetivo del presente trabajo fue proveer información sobre las propiedades nutricionales, funcionales y biológicas del lactosuero, generado por la industria quesera artesanal, así como evidencias científicas recientes que sustentan, bajo distintos enfoques tecnológicos, el potencial de aprovechamiento, mediante su transformación o recuperación para adicionarle valor. Las oportunidades en la valorización del lactosuero, a través de la elaboración de diversos productos lácteos, como el requesón (queso de suero), bebidas fermentadas o con frutas, bebidas para deportistas, bebidas alcohólicas, mantequilla de suero, dulces, helados y paletas, reflejan el nicho de oportunidades para hacer la industria quesera artesanal más redituable. El cambio de paradigmas en los productores artesanales, en percibir al lactosuero como una fuente de co-productos para su recuperación, transformación y reincorporación a sus procesos, acorde a las capacidades tecnológicas de dicha industria, y no como un subproducto, reduciría las pérdidas de componentes de alto valor (e.g., proteína, lípidos y azúcares), trayendo consigo efectos benéficos, tanto ambientales como económicos.
Abstract Whey contains a high concentration of milk components. However, a high volume of it continues to be discarded to the environment, leading to a loss in nutrients and pollution problems. The objective of the present review is oriented to provide information on the nutritional, functional and biological properties of the whey generated by the artisanal cheese idustry. Furthermore, scientific evidence supporting the different opportunities for its valorization, revised under different technological approaches is included. The potential of whey valorization, through its recovery or transformation into value-added products, includes its use in a diversity of food products. Whey use includes the production of requesón (whey cheese), fermented beverages, fruit-flavored drinks, sports drinks, alcoholic beverages, whey buttermilk, ice-cream, candies and popsicles. The transformation of whey produced by the artisanal cheese industry, offer a niche of opportunities to make this industry more profitable. The reduction in loss of highly valuable components (e.g., protein, fat and lactose) by using whey, according to their technological capabilities, represents a suitable option to its valorization, by changing the perception of whey as a waste, but as a source of co-products. The recovery, transformation and reincorporation into the processes, would bring beneficial economic effects to artisanal producers and reduce the environmental impact caused by this industry.
RESUMO
The aim of the present study was to produce fish silage by lactic acid fermentation and evaluate its use in feeding of quails (Coturnix coturnix japonica). An oven-dried mixture of fish silage and soybean meal (1:1 w/w) was used to prepare the diets with different levels of inclusion (0, 10, 20 and 30%) and evaluate its effect on the performance and meat quality of 160 quails. The inclusion level did not affect the growth and feed conversion ratio. The carcass yield (70.3%) and sensory quality of breast meat were not significantly different among the treatments (p>0.05). However, the concentration of unsaturated fatty acids such as oleic (C18:1n9C), linoleic (C18:2n6C), linolenic (C18:3n3), arachidonic (C20:4n6), cis eicosapentaenoic (C20:5n3) and cis docosahexaenoic (C22:6n3) increased in quail breast meat with the inclusion of fish silage:soybean mixture in the diet (p<0.05). Fish silage and its use in quail diets could offer a good alternative for fish waste utilization as feedstuff component for the improvement of fatty acid composition in its breast meat.