Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

[EN]Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis

Bioaccesibilidad de la acrilamida en snacks fritos de patata y de otros vegetales

Trabajo presentado a las XXVII Jornadas Internacionales de Nutrición Práctica, celebradas en Madrid los dias 15 y 16 de marzo de 2023.Peer reviewe

Estimación de la exposición diaria a acrilamida en residencias de mayores mediante un estudio de dieta total

Trabajo presentado a las XXVII Jornadas Internacionales de Nutrición Práctica, celebradas en Madrid los dias 15 y 16 de marzo de 2023.Peer reviewe

Contenido de furosina e hidroximetilfurfural en cereales de desayuno. Evolución en productos comercializados en España entre 2006-2018

Resumen del trabajo presentado a las XXIV Jornadas Internacionales de Nutrición Práctica, celebradas en la Fundación Pablo VI (Madrid) los días 12 y 13 de febrero de 2020.Peer reviewe

Acrylamide exposure from common culinary preparations in Spain, in household, catering and industrial settings

This article belongs to the Special Issue Maillard Reaction: New Knowledge in Process Contaminants in Foods and Effects on Biological Systems.In 2019, the European Commission recommended monitoring the presence of acrylamide in certain foods not included in Regulation 2158/2017, to consider other sources of exposure to the contaminant. In the present study, eleven groups of processed foods commonly consumed in Spain were classified, according to their food matrix, into potato-based food, cereal-based food and food based on cereal mixed with meat, fish or vegetables. Samples were collected from three different settings: household, catering services and industrial origin, to evaluate the influence of the food preparation site on acrylamide formation. The highest concentrations of acrylamide were observed in chips (French fries), especially those prepared at home. Although at lower levels, all the other foods also contained significant concentrations of acrylamide, confirming the need to control its content in foods not included in the EU regulation. Industrially processed foods made a lower contribution to acrylamide exposure, probably due to the more stringent controls exercised on culinary processes in this context. The higher levels recorded for households and catering services highlight the need for greater awareness of culinary processes and for measures to be adopted in these settings to limit the formation of acrylamide in food preparation.This research was funded by the Spanish Ministry of Science and Innovation (Spain): project ACRINTAKE (RTI2018–094402-B-I00, MCIU/AEI/FEDER, UE).Peer reviewe

Contenido de acrilamida en alimentos procesados comunmente consumidos por la población española. Influencia del ámbito de su preparación

Trabajo presentado a las XXV Jornadas Internacionales de Nutrición Práctica, celebradas en formato online del 20 al 22 de abril de 2021.Peer reviewe

Assessment of dietary acrylamide exposure in children attending Spanish school canteens using the duplicate diet method

Acrylamide is a carcinogenic chemical contaminant formed in heat-treated foods. In this study, a duplicate diet method was used to evaluate the acrylamide content of foods/meals served at breakfast and lunch in two Spanish school canteens. The dietary acrylamide intake in students was estimated within lower bound (LB) and upper bound (UB) scenarios. Biscuits exhibited the highest acrylamide values, exceeding the benchmark level established by the European Regulation 2017/2158 (350 μg/kg), followed by main courses such as stews, side dishes and bread. In the LB scenario, breakfasts accounted for the major contributors to the daily acrylamide intake (73.3%). However, lunches were the main responsible in the UB scenario (65.4%). Acrylamide exposure was estimated for three age ranges: 3-5y pre-school children (0.59 and 0.92 μg/kg body weight/day), 6-9y children (0.43 and 0.67 μg/kg body weight/day) and 10-12y early adolescents (0.28 and 0.44 μg/kg body weight/day). Margins of exposure for neoplastic effects ranged between 144 and 1026, which is below the reference of 10,000, indicating a health concern. The findings reveal that any diet, even one that is balanced, varied and contains foods low in acrylamide, involves an additive exposure to the contaminant that should be considered when conducting acrylamide exposure risk assessments.The present research was funded by the R&D project ACRINTAKE (RTI2018-094402-B-I00), financed by MCIN/AEI/10.13039/501100011033/and the Regional Development European Fund (“FEDER”): A way to make Europe.Peer reviewe

Dietary Exposure to Acrylamide in Spanish University Canteens by the Duplicate Diet Method

During the university period, many students adopt new dietary patterns, sometimes including the excessive consumption of highly processed foods, which can expose them to process contaminants such as acrylamide. This research aimed to evaluate the dietary exposure to acrylamide of Spanish university students in their campus canteens using the duplicate diet method, and to estimate the associated health risks based on their food consumption habits. Apart from potato-based foods, the analysed food/meals contained non-detectable or low levels of acrylamide (<63 µg/kg). Two exposure scenarios were considered, depending on whether students selected salad (lowest exposure) or processed potatoes (highest exposure) as side dishes. The frequent consumption of processed potatoes could increase acrylamide intake from 6.5 to 26.4 µg/day. Due to their lower body weight, women had a higher risk of acrylamide exposure in both scenarios. The margin of exposure (MOE) values for neoplastic effects indicated high levels of health concern, even only considering the main meal of the day. Furthermore, the risk of acrylamide exposure could increase by more than four times depending on the side dish selected by the students. This research highlights the need to promote healthy dietary habits among young people, encouraging the selection of safer food options in terms of food processing contaminants

Assessment of the acrylamide bioaccessibility in cereal and potato-based foods after in vitro digestion

Acrylamide bioaccessibility during and after in vitro gastrointestinal digestion of cereal and potato-based foods was monitored. Isolated vs combined meals were evaluated with the aim of investigating acrylamide-food matrix interactions. The meals considered were breakfast cereals, biscuits, patatas a lo pobre (patatas-pobre) and French fries for isolated foods; breakfast cereals with yoghurt, biscuits with milk, patatas-pobre with scrambled eggs and French fries with meat steak for combined foods. The non-bioaccessible fraction of acrylamide tended to decrease during the digestion process in all the systems. However, the final bioaccessible acrylamide was affected by the food matrix composition (fibre, protein, sugars and lipids). The digestion of breakfast cereals, biscuits with milk, patatas-pobre and patatas-pobre with scrambled eggs led to acrylamide bioaccessibility below the initial content of the contaminant in the meals. In absolute values, the combined consumption of biscuits and milk significantly reduced the bioaccessible acrylamide compared with isolated biscuits (from 212 to 122 ng; p < 0.05). The presence of protein sources (egg or meat steak) in the potato-based products significantly decreased the acrylamide bioaccessibility, which was more prominent in the French fries-meat steak system (from 2100 to 1698 ng; p < 0.05). These findings establish the importance of considering complete meals and not only isolated foods as well as the study of the non-bioaccessible fractions for a better understanding of acrylamide bioaccessibility, its recovery and interactions during gastrointestinal digestion.This work is part of the R&D project ACRINTAKE (RTI2018-094402-B-I00), financed by MCIN/AEI/https://doi.org/10.13039/501100011033/ and Fondo Europeo de Desarrollo Regional (“FEDER,) A way to make Europe.Peer reviewe