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6. Volatile phenols in aged wine spirits: role, contents and impact of ageing systems

Author

Caldeira, I., Granja-Soares, J., Vitória, C., Anjos, O., Fernandes, T.A., Fargeton, L., Boissier, B., Catarino, Sofia, and Canas, S.

Subjects
volatile phenols, chestnut, oak, aged spirits, micro-oxygenation
Abstract

The volatile phenols (eugenol, guaiacol, 4-methylguaiacol, syringol, 4-methylsyringol and 4-allylsyringol) are odorant compounds that may exist in aged wine spirits resulting from their contact with wooden barrels during the ageing process. These compounds, which are originated from wood lignin’s, revealed an important sensory impact in aged wine spirits due to their low sensory thresholds and correlations with sensory attributes such as woody, toasted, smoke, which have a close relationship with the quality of these beverages. The wine spirits are traditionally aged in wooden barrels but the use of wood fragments, with or without micro-oxygenation, is a technological alternative that has been recently studied by our team with promising results. This work presents an overview of volatile phenols’ amounts in wine spirits aged in wooden barrels during different ageing times and using two kinds of wood (chestnut versus oak). These compounds were quantified by GC-FID, after a previous extraction and concentration steps, and their identification was assessed by GC-MS. It is also examined the results and the impact of alternative technologies on the amounts of such compounds. The ANOVA results showed a significant effect of the ageing system and the wood botanical species on the volatile phenols contents info:eu-repo/semantics/publishedVersion

Published
2021

9. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, 2p15 Consortium, 16p112 Consortium, Merla G, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A, Loviglio, Mn, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, Sm, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Hippolyte, L, Maillard, Am, 2p15, Consortium, 16p112, Consortium, Merla, G, Van Dijck, A, Kooy, Rf, Sanlaville, D, Rosenfeld, Ja, Shaffer, Lg, Andrieux, J, Marshall, C, Scherer, Sw, Shen, Y, Gusella, Jf, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, Et, Deplancke, B, Beckmann, J, Rougemont, J, Jacquemont, S, and Reymond, A

Abstract

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.

Published
2017

10. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author

D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.<Suffix>3rd</Suffix>, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Published
2016
Full Text
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11. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D, Blaumeiser, Bettina, 2p15 Consortium, 16p11.2 Consortium, Loviglio, M.N., Männik, K., van der Werf, I., Giannuzzi, G., Zazhytska, M., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Roberts-Caldeira, I., Hippolyte, L., Maillard, A.M., Ferrarini, A., Butschi, F.N., Conrad, B., Addor, M.C., Belfiore, M., Roetzer, K., Dijck, A.V., Blaumeiser, B., Kooy, F., Roelens, F., Dheedene, A., Chiaie, B.D., Menten, B., Oostra, A., Caberg, J.H., Carter, M., Kellam, B., Stavropoulos, D.J., Marshall, C., Scherer, S.W., Weksberg, R., Cytrynbaum, C., Bassett, A., Lowther, C., Gillis, J., MacKay, S., Bache, I., Ousager, L.B., Smerdel, M.P., Graakjaer, J., Kjaergaard, S., Metspalu, A., Mathieu, M., Bonneau, D., Guichet, A., Parent, P., Férec, C., Gerard, M., Plessis, G., Lespinasse, J., Masurel, A., Marle, N., Faivre, L., Callier, P., Layet, V., Meur, N.L., Le Goff, C., Duban-Bedu, B., Sukno, S., Boute, O., Andrieux, J., Blanchet, P., Geneviève, D., Puechberty, J., Schneider, A., Leheup, B., Jonveaux, P., Mercier, S., David, A., Le Caignec, C., de Pontual, L., Pipiras, E., Jacquette, A., Keren, B., Gilbert-Dussardier, B., Bilan, F., Goldenberg, A., Chambon, P., Toutain, A., Till, M., Sanlaville, D., Leube, B., Royer-Pokora, B., Grabe, H.J., Schmidt, C.O., Schurmann, C., Homuth, G., Thorleifsson, G., Thorsteinsdottir, U., Bernardini, L., Novelli, A., Micale, L., Merla, G., Zollino, M., Mari, F., Rizzo, C.L., Renieri, A., Silengo, M., Vulto-van Silfhout, A.T., Schouten, M., Pfundt, R., de Leeuw, N., Vansenne, F., Maas, S.M., Barge-Schaapveld, D.Q., Knegt, A.C., Stadheim, B., Rodningen, O., Houge, G., Price, S., Hawkes, L., Campbell, C., Kini, U., Vogt, J., Walters, R., Blakemore, A., Gusella, J.F., Shen, Y., Scott, D., Bacino, C.A., Tsuchiya, K., Ladda, R., Sell, S., Asamoah, A., Hamati, A.I., Rosenfeld, J.A., Shaffer, L.G., Mitchell, E., Hodge, J.C., Beckmann, J.S., Jacquemont, S., Reymond, A., Ewans, L.J., Mowat, D., Walker, J., Amor, D.J., Esch, H.V., Leroy, P., Bamforth, J.S., Babu, D., Isidor, B., DiDonato, N., Hackmann, K., Passeggeri, M., Haeringen, A.V., Smith, R., Ellingwood, S., Farber, D.M., Puri, V., Zadeh, N., Weaver, D.D., Miller, M., Wilks, T., Jorgez, C.J., Lafayette, D., Other departments, and Human Genetics

Subjects
0301 basic medicine, Male, Microcephaly, Autism Spectrum Disorder, Obesity/genetics, Settore MED/03 - GENETICA MEDICA, Body Mass Index, Microcephaly/genetics, Gene duplication, Chromosome Duplication, ddc:576.5, Copy-number variation, Child, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics, medicine.diagnostic_test, Chromosome Mapping, Middle Aged, Phenotype, Chromatin, Chemistry, Psychiatry and Mental Health, Child, Preschool, Female, Original Article, Chromosomes, Human, Pair 16/genetics, Megalencephaly/genetics, Chromosome Deletion, Autistic Disorder/genetics, Molecular Biology, Cellular and Molecular Neuroscience, Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Adolescent, DNA Copy Number Variations, Locus (genetics), DNA Copy Number Variations/genetics, Biology, Aged, Autistic Disorder, Chromosomes, Human, Pair 16, Humans, Infant, Intellectual Disability, Megalencephaly, Obesity, Chromosomes, Fluorescence, Chromatin/metabolism, 03 medical and health sciences, medicine, Preschool, Gene, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pair 16, medicine.disease, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, 030104 developmental biology, Human medicine, Chromosome Mapping/methods, Fluorescence in situ hybridization
Abstract

Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.

Published
2015
Full Text
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13. Avaliação da robustez de modelos derivativos PLS-R em espectroscopia usando o número de pontos da suavização espectral

Author

Delgado, T., Santos, A.J.A., Caldeira, I., and Anjos, O.

Subjects
Pré-processamento, Suavização espectral
Abstract

Submitted by Ofélia Anjos (ofelia@ipcb.pt) on 2019-04-07T15:28:57Z No. of bitstreams: 1 Teresa et al 2017_ UBI.pdf: 1188531 bytes, checksum: 4b1c53acb414837089fcec9a7dfb75ba (MD5) Approved for entry into archive by Maria Eduarda Pereira Rodrigues (erodrigues@ipcb.pt) on 2019-06-20T23:40:40Z (GMT) No. of bitstreams: 1 Teresa et al 2017_ UBI.pdf: 1188531 bytes, checksum: 4b1c53acb414837089fcec9a7dfb75ba (MD5) Made available in DSpace on 2019-06-20T23:49:13Z (GMT). No. of bitstreams: 1 Teresa et al 2017_ UBI.pdf: 1188531 bytes, checksum: 4b1c53acb414837089fcec9a7dfb75ba (MD5) Previous issue date: 2017 info:eu-repo/semantics/publishedVersion

Published
2017

14. Impacto da aplicação de proteínas vegetais e extrato de leveduras no perfil químico e aromático de vinho tinto

Author

Mira, Helena, Costa, V., Torgal, Isabel, and Caldeira, I.

Subjects
colagem, proteína vegetal, vinho, finning, vegetable protein, wine, extrato levedura, gelatina, yeast extract, gelatins
Abstract

A colagem dos vinhos usando produtos de origem animal e mineral é uma prática muito comum, contudo as exigências de mercado têm originado novas alternativas a estes produtos, nomeadamente proteínas de origem vegetal e extratos de levedura. O objetivo deste trabalho foi comparar o efeito de três tipos de cola, proteínas de origem vegetal (batata e ervilha), proteínas de origem animal (gelatina) e extrato de leveduras, na composição química e no perfil aromático e sensorial de um vinho tinto. Os produtos de colagem foram aplicados ao vinho na dose mínima e máxima, recomendadas pelo fabricante. Os resultados obtidos mostraram que as proteínas vegetais e o extrato de levedura utilizados não afetaram a composição fenólica dos vinhos. O extrato de levedura foi o mais eficaz relativamente à Rev UIIPS. 2017; 5(2): 78-79. 79 turbidez do vinho. Foram quantificados por GC-MS quatro compostos do aroma dos vinhos designadamente o acetato de isoamilo, o 1-hexanol, o 2-feniletanol e o vanilato de etilo. O extrato de levedura contribuiu para uma maior diminuição no teor em acetato de isoamilo. As proteínas vegetais não afetaram significativamente os teores de 1-hexanol, 2-feniletanol e vanilato de etilo comparativamente com a testemunha. Na análise sensorial, os provadores não detetaram diferenças significativas entre os vinhos tratados com diferentes produtos de colagem. Finning is a frequent practice in oenology, using the gelatins and bentonites. Due to the requirements of the consumers, new products have emerged, as vegetables proteins and yeast extract. The impact of fining products, such as vegetal proteins (potato and peas), yeast extract and gelatin on the chemical and sensory properties of a red wine was investigated. Regarding the phenolic composition, no significant differences were found between the wines treated with different fining products. The turbidity was the lowest in the wine treated with yeast extract. Four wine aroma compounds were quantified by GC-MS: isoamyl acetate, 1-hexane, 2-phenylethanol and ethyl vanilate. The wine treated with yeast extract contained lower concentration of isoamyl acetate. No differences were found among wine samples treated with vegetable proteins for 1-hexanol, 2- phenylethanol and ethyl vanilate. In addition, no significant sensory differences were found among wines treated with different fining products, evaluated by a trained panel. info:eu-repo/semantics/publishedVersion

Published
2017

15. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio, M.N., Leleu, M., Mannik, K., Passeggeri, M., Giannuzzi, G., Werf, I. van der, Waszak, S.M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Hippolyte, L., Maillard, A.M., Dijck, A. Van, Kooy, R.F., Sanlaville, D., Rosenfeld, J.A., Shaffer, L.G., Andrieux, J., Marshall, C., Scherer, S.W., Shen, Y., Gusella, J.F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E.T., Deplancke, B., Beckmann, J.S., Rougemont, J., Jacquemont, S., Reymond, A., Vulto-van Silfhout, A.T., Schouten, M.I., Pfundt, R.P., Leeuw, N. de, et al., Loviglio, M.N., Leleu, M., Mannik, K., Passeggeri, M., Giannuzzi, G., Werf, I. van der, Waszak, S.M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Hippolyte, L., Maillard, A.M., Dijck, A. Van, Kooy, R.F., Sanlaville, D., Rosenfeld, J.A., Shaffer, L.G., Andrieux, J., Marshall, C., Scherer, S.W., Shen, Y., Gusella, J.F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E.T., Deplancke, B., Beckmann, J.S., Rougemont, J., Jacquemont, S., Reymond, A., Vulto-van Silfhout, A.T., Schouten, M.I., Pfundt, R.P., Leeuw, N. de, and et al.

Abstract

Contains fulltext : 174530.pdf (publisher's version ) (Open Access), Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.

Published
2017

16. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., Van Der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Zollino, Marcella, Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Zollino, M. (ORCID:0000-0003-4871-9519), Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., Van Der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Zollino, Marcella, Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., and Zollino, M. (ORCID:0000-0003-4871-9519)

Abstract

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.

Published
2017

17. Efeito da variação da suavização espectral na robustez de modelos de calibração de metanol e teor alcoólico em aguardentes por FTIR-ATR

Author

Santos, A., Caldeira, I., and Anjos, O.

Subjects
RPD, FTIR-ATR, Suavização espectral, Aguardente
Abstract

No presente estudo pretendeu-se compreender o efeito da variação do número de pontos da suavização espectral (ou filtro digital) no desenvolvimento de modelos de calibração por FTIR-ATR utilizando técnicas PLS-R para determinações rápidas do teor em metanol e do teor alcoólico em aguardentes. De acordo com o descrito em ANJOS et al. (2016) as zonas espectrais identificadas foram 1607-977 cm-1 e 3057-2864 + 1292-663 cm-1 respetivamente para o teor em metanol e teor alcoólico, com coeficientes de determinação superiores a 96,3 %. O valor de RPD apresenta qualidade suficiente para utilização em laboratório de controlo de qualidade. Foi avaliada a robustez dos modelos para 5, 9, 13, 17, 21 e 25 pontos de suavização para o pré-processamento usando a Primeira Derivada (1stDer), aplicando o algoritmo de Savitzky-Golay.

Published
2016

19. Li+ions diffusion coefficient in V2O5:MoO3Sol-Gel films

Author

Cholant, C. M., primary, Azevedo, C. F., additional, Caldeira, I., additional, Balboni, R. D. C., additional, Moura, E. A., additional, Westphal, T. M., additional, Pawlicka, A., additional, Berton, M. A. C., additional, Gomez, J. A., additional, and Avellaneda, C. O., additional

Published
2017
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21. Electrochemical, UV-Vis, and microscopical characteristics of sol-gel CeO2:V2O5 thin film.

Author

Balboni, R. D. C., Lemos, R. M. J., Moura, E. A., Cholant, C. M., Azevedo, C. F., Caldeira, I. M., Gündel, A., Flores, W. H., Pawlicka, A., and Avellaneda, C. O.

Subjects
THIN films, METALLIC oxides, SPECTROMETRY, SOLID state electronics, OXIDES
Abstract

Cerium dioxide (CeO2) and cerium dioxide doped with vanadium pentoxide (CeO2:V2O5) were synthesized from sol-gel precursors and deposited by spin coating on a conductive glass substrate (FTO). The films with different concentration of dopant and number of deposited layers were studied throughout cyclic voltammetry (CV), chronoamperometry/chronocoulometry, atomic force microscopy (AFM), scanning electron microscopy (SEM), and UV-Vis spectroscopy. The best value of charge density of 18.9 mC cm−2 was obtained for CeO2 doped with 15 mol% of V2O5 film. The chemical diffusion coefficient of lithium ions into CeO2 was 1.73 × 10−12 and CeO2:V2O5 15 mol% 6.75 × 10−13 cm2 s−1. This film presented 79% of transparency in UV-Vis and 5% color change under ± 1.3 V of applied potentials. Structural analyses revealed its homogeneous surface and the root mean-squared roughness (RMS) value of 9.42 nm. Based on the obtained results, CeO2 doped with 15 mol% V2O5 film is a promising thin coating for the use in electrochromic devices as a passive counter-electrode. [ABSTRACT FROM AUTHOR]

Published
2018
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22. GC-FID and GC-MS as a tool to screen the influence of wood ageing technologies in the brandies odourless and odourant compounds

Author

Caldeira, I., Anjos, O., Portal, V., Belchior, A.P., and Cana, S.

Subjects
Brandy, Odourant compounds, Wood ageing
Abstract

The maturation of wine brandies in wooden barrels cause many sensory and physicochemical changes in these alcoholic beverages, namely its flavour modification. Previous work (Caldeira et al. 2008) pointed out the most potent odourant compounds of the wine aged brandies. Some of these compounds proceed from the distillate and others are extracted from the wood. In this study it was quantified, some odourless compounds, such as methanol and higher alcohols and several odorant compounds in brandies aged in presence of two types of wood fragments (staves and tablets), from two different kinds of woods (Limousin oak wood and Portuguese chestnut wood), and compared with those found in the same with brandy aged in wooden barrels. A taster panel have also profiled these brandies and evaluated their overall quality. The methanol and higher alcohols were quantified by GC-FID equipped with a fused silica capillary column of polyethylene glycol according to the official method [NP 3263, 1990]. The odorant compounds were quantified by GC-FID and identified by GC-MS. The results showed that the ageing system is the most discriminant factor, having a significant effect on the level of several odourant compounds. The wood botanical species affected few odourant compounds. The importance of odorant compounds was also demonstrated by the high linear correlations between their contents and the intensity of several sensory attributes. The results show the possibility of using the chromatographic results as a tool to discriminate brandies produced with different ageing technologies.

Published
2012

23. Influence of the kind of wood (chestnut and Limousin oak) in the extractives and Klason lignin contents of wood fragments used in the ageing of wine brandies

Author

Carmona, C., Anjos, O., Caldeira, I., and Canas, S.

Subjects
Lignin content, Portuguese chestnut, Wood extractive, Limousin oak
Abstract

Só está disponível o resumo da comunicação. Influence of the kind of wood (chestnut and Limousin oak) in the extractives and Klason lignin contents of wood fragments used in the ageing of wine brandies

Published
2012

24. First approach to the characterization of a traditional alcoholic drink 'Aguardente de Zimbro'

Author

Nunes, D., Anjos, O., and Caldeira, I.

Subjects
Alcoholic drink, Aguardente de zimbro
Abstract

The alcoholic drink called “aguardente de zimbro” is normally presented at touristic documentation about “Serra da Estrela” and included in the food heritage of the region. However, there is a lack of technical and scientific information about this beverage. This work intends to achieve a first characterization of this product concerning its technology, and its sensory properties and physico-chemical characteristics. A few number of commercial samples of this product and other alcoholic beverages made with juniper were analyzed. It was performed several analytical determinations to the samples, namely alcoholic strength, dry matter, total acidity, fixed acidity, volatile acidity, pH, chromatic characteristics, methanol, acetaldehyde and ethyl acetate in order to characterize analytically the juniper spirits, namely the Portuguese ones. It was also done the descriptive sensory analysis of the beverages. Based on the results the three Portuguese commercial beverages “Aguardente de zimbro”, which are currently in the market, seem to be made from three different alcoholic distillates (grape marc spirit, wine spirit and arbutus spirit). The three commercial beverages presented a yellowish colour. However, the three beverages presented a quite different flavour profile, so further research is needed in order to establish and understand the sensory profile of the traditional beverage.

Published
2012

25. Validação intra-laboratorial da determinação do acetaldeído, acetato de etilo, metanol e alcoóis superiores e aguardentes vínicas, aguardente vínicas envelhecidas e bagaceiras por GC-FID

Author

Luís, A.C.M., Mota, D., Anjos, O., and Caldeira, I.

Subjects
Wine spirit, Validação, Validation, Volatile compounds, Grape marc spirit, Compostos voláteis, Aguardente bagaceira, Aguardente vínica
Abstract

This work presents the determination of principal volatile compounds (acetaldehyde, ethyl acetate, methanol, 2-butanol, 1-propanol, 2-methyl- 1-propanol, 2-propen-1-ol, 1-butanol, 2-methyl-1-butanol and 3-methyl-1-butanol) in wine spirits, brandies and grape marc spirits by GC-FID. The method was evaluated in terms of suitability of chromatographic system, accuracy, precision, linearity and detection and quantifi cation limits. The method showed good accuracy for the majority of the compounds and it presented linearity and precision for all compounds. Based on these results the method seems suitable for quality control of marc spirits and wine spirits. Este trabalho apresenta a determinação dos principais compostos voláteis (acetaldeído, acetato de etilo, metanol, 2-butanol, 1-propanol, 2-metil- 1-propanol, 2-propen-1-ol, 1-butanol, 2-metil-1-butanol e 3-metil-1-butanol) em aguardentes vínicas e bagaceiras por GC-FID. O método foi avaliado em termos de adequação do sistema cromatográfi co, exactidão, precisão, linearidade e limites de detecção e quantifi cação. O método apresentou boa exactidão para a maioria dos compostos e apresentou linearidade e precisão para todos os compostos. Com base nestes resultados o método parece adequado para o controle de qualidade das aguardentes vínicas e bagaceiras.

Published
2011

28. Teores de metanol em aguardentes vínicas e bagaceiras portuguesas

Author

Mota, D., Luís, A., Cerveira, O., Anjos, O., Canas, S., and Caldeira, I.

Subjects
Quantificação, Metanol, Aguardente bagaceira, Aguardente vínica
Abstract

Comunicação apresentada no 8.º Simpósio de Vitivinicultura do Alentejo que decorreu em Évora de 5 a 7 de Maio de 2010. O metanol é um álcool resultante da degradação das pectinas que ocorre durante o processo de fermentação do vinho e do bagaço, passando para a aguardente durante o processo de destilação. A tecnologia utilizada na preparação dos vinhos e dos bagaços condiciona o seu teor nos destilados. Por razões de toxicidade, o teor de metanol nas aguardentes é limitado a 1000g/hL de álcool puro nas aguardentes bagaceiras e 200g/hL nas aguardentes vínicas (Reg. CE. 110/2008). Assim, antes da colocação das aguardentes no mercado deve ser avaliado o teor deste álcool, o qual é normalmente quantificado por cromatografia-gáslíquido de alta resolução. Neste trabalho são apresentados os teores de metanol de um número considerável de amostras analisadas no nosso laboratório, em 2007, 2008 e 2009. Os resultados obtidos mostram que nenhuma das amostras de aguardente vínica analisada apresentou um teor superior ao limite legal estabelecido. No caso das aguardentes bagaceiras, apenas quatro das amostras analisadas apresentaram teores acima do limite legal.

Published
2010

29. Envelhecimento acelerado de aguardentes vínicas na presença de fragmentos de madeira. Influência nos compostos odorantes

Author

Caldeira, I., Anjos, O., Portal, V., and Canas, S.

Subjects
Madeira, Compostos odorantes, Envelhecimento, Aguardente vínica
Abstract

A tecnologia de envelhecimento tradicional, que consiste na colocação da aguardente vínica em vasilhas de madeira durante vários anos, é uma técnica morosa e onerosa. Assim, têm vindo a ser introduzidas e desenvolvidas novas técnicas, com o intuito de optimizar o processo e reduzir os custos. Uma dessas novas técnicas consiste em introduzir pedaços de madeira (aparas, toros ou outras formas) na bebida a envelhecer, condicionada em depósitos de inox. Têm sido realizados muitos estudos em vinhos, mas em aguardentes a experimentação é escassa [1, 2]. Assim, este trabalho teve como objectivo avaliar a influência da utilização de alternativas ao envelhecimento de aguardentes em vasilhas de madeira, na composição química das aguardentes obtidas, dando particular atenção aos compostos odorantes provenientes da madeira. Para tal, uma mesma aguardente vínica da Lourinhã foi submetida a um processo de envelhecimento, com três formas de madeira: aguardente colocada em vasilha de madeira (V), aguardente colocada em vasilha de inox com introdução de madeira sob a forma de dominós (D) e aguardente colocada em vasilha de inox com introdução de madeira sob a forma de tábuas (T), tendo sido colhidas amostras de aguardente, ao fim de 180 dias de envelhecimento, para análise e quantificação dos compostos odorantes. Os resultados obtidos mostram que a forma da madeira teve um efeito altamente significativo na maioria dos compostos analisados. No caso dos compostos odorantes derivados da lenhina da madeira (fenois voláteis e vanilina), os teores mais elevados foram encontrados nas aguardentes envelhecidas na presença de fragmentos (dominós ou tábuas), enquanto para os compostos odorantes derivados das hemiceluloses da madeira (ácido acético e aldeídos furânicos) os teores mais elevados foram determinados nas aguardentes envelhecidas em vasilha de madeira. Os resultados deste trabalho sugerem a possibilidade de diferenciação química das aguardentes, em função da tecnologia de envelhecimento.

Published
2009

30. Sensory and chemical modifications of wine brandy aged with chestnut and oak wood

Author

Caldeira, I., Anjos, O., Portal, V., Belchior, A.P., and Canas, S.

Subjects
Brandy, Chestnut fragments, Wooden barrels, Oak fragment
Abstract

This work evaluated the sensorial and chemical modifications in brandy aged in presence of two types of wood fragments in comparison with a brandy aged in wooden barrels.

Published
2009

31. Estudos de optimização e diversificação da 'Uvada'

Author

Caldeira,I., Moreira,S., and Alves,C.

Subjects
uvada, confiture de raisin, diversification, optimisation, doce de uva, optimização, diversificação
Abstract

Neste trabalho ensaiou-se a optimização da formulação da uvada, um doce elaborado com mosto concentrado e maçã. A aplicação da metodologia das superfícies de resposta permitiu optimizar a formulação com base no parâmetro sensorial equilibrio global. Assim, a uvada óptima deverá apresentar uma percentagem de maçã de 42 % e um resíduo seco solúvel final de 67%. Foi ainda avaliada a possibilidade de diversificação desta formulação utilizando-se outras castas para a produção dos mostos concentrados e outras variedades de maçã. Os resultados mostraram a possibilidade de obter produtos sensorialmente equilibrados mas com características sensoriais e fisico-químicas diferenciadas. Assim, a casta utilizada e variedade de maçã poderão constituir, no futuro, importantes factores de diversificação deste doce. Dans ce travail on a essayé l´optimisation de la « Uvada », une confiture élaborée avec du mout concentré et des pommes. La application de la méthodologie de les surfaces de réponse on a permit l´optimisation basée sur le paramètre sensoriel: équilibre global. Pour obtenir la confiture «optime» on a besoin de utiliser 42% de pomme et d´obtenir une confiture avec une concentration finale de 67%. On a aussi étudié la diversification de cette confiture on utilisant des autres cépages pour la préparation des mout concentrés et des autres variétés de pomme. Les résultats on montré qu´il est possible d´obtenir des confitures, équilibrées au niveau sensorielle bien qu´elles présentent des nettes différents caractéristiques physico-chimiques et sensorielles. Alors, le cépage des raisins et la variété des pommes seront importants facteurs pour la diversification de ce produit. This work deals with the optimization of «Uvada», a jam made with concentrate grape juice and apple. For that it was used the response surface methodology and the response variable was the sensorial global equilibrium of these jams. The optimal jam should present 42% of apple and 67% of total soluble solids. It was also studied the use of different grape and apple varieties in the production of this jam. The obtained jams presented a similar sensorial global equilibrium. Nevertheless, they presented significant differences on physico-chemical and sensorial composition. Than, the grape and apple varieties could be used as a factor of diversification for this product.

Published
2006

32. Li ions diffusion coefficient in V 2 O 5 :MoO 3 Sol-Gel films.

Author

Cholant, C. M., Caldeira, I., Balboni, R. D. C., Westphal, T. M., Avellaneda, C. O., Azevedo, C. F., Moura, E. A., Pawlicka, A., Berton, M. A. C., and Gomez, J. A.

Subjects
*LITHIUM ions, *VANADIUM pentoxide, *THIN films, *SOL-gel materials, *DIFFUSION coefficients, *CYCLIC voltammetry
Abstract

Present work shows results of Li+ions insertion and extraction from vanadium pentoxide doped with 5 mol% of molybdenum trioxide (V2O5:MoO3) thin films. The characterizations were performed by cyclic voltammetry (CV), potentiostatic intermittent titration technique (PITT), and electrochemical impedance spectroscopy (EIS). The obtained results revealed Li+diffusional behavior for anodic and cathodic processes, and it was found that Li+diffusion coefficient (D) values obtained from CV, PITT, and EIS varied from 10−10to 10−12cm2s−1. Finally, a diffusion of Li+process was modeled by solving Fick equation with constant D in plane sheet geometry. [ABSTRACT FROM PUBLISHER]

Published
2017
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35. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, and Reymond, A

Abstract

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.

Published
2017
Full Text
View/download PDF

38. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, Van Der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, Van Der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, Mackay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, De Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-Van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, De Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela Qcm, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, Didonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie Van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, Deedee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A, 2p15 Consortium, and 16p11 2 Consortium

Abstract

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.

43. Simultaneous Determination of Ethanol and Methanol in Wines Using FTIR and PLS Regression.

Author

Thanasi V, Caldeira I, Santos L, Ricardo-da-Silva JM, and Catarino S

Abstract

Accurate quantification of ethanol and methanol is essential for regulatory compliance and product quality assurance. Fourier Transform Infrared Spectroscopy (FTIR) offers rapid, non-destructive analysis with minimal sample preparation, making it a promising tool for wine analysis. In this exploratory study, the use of FTIR and PLS regression for the simultaneous quantification of ethanol and methanol in wine samples of 11 different Portuguese mono-varietal wines and different vintages deriving from the same winery in Lisbon was investigated. A model was developed, demonstrating the feasibility of FTIR and PLS regression for the simultaneous quantification of ethanol and methanol in wine samples through dedicated models; it showed good prediction capacity for ethanol determination but poorer performance for methanol quantification. The model could be reliable enough for quality control in wine production, but to improve its performance should be enhanced in the future with more samples from different origins, wine types, and a wider concentration range in the case of methanol.

Published
2024
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44. Metabolic regulation of the host-fungus interaction: from biological principles to therapeutic opportunities.

Author

Silva-Gomes R, Caldeira I, Fernandes R, Cunha C, and Carvalho A

Subjects
Humans, Animals, Energy Metabolism, Host-Pathogen Interactions immunology, Mycoses immunology, Mycoses metabolism, Fungi immunology
Abstract

Fungal infections present a significant global public health concern, impacting over 1 billion individuals worldwide and resulting in more than 3 million deaths annually. Despite considerable progress in recent years, the management of fungal infections remains challenging. The limited development of novel diagnostic and therapeutic approaches is largely attributed to our incomplete understanding of the pathogenetic mechanisms involved in these diseases. Recent research has highlighted the pivotal role of cellular metabolism in regulating the interaction between fungi and their hosts. In response to fungal infection, immune cells undergo complex metabolic adjustments to meet the energy demands necessary for an effective immune response. A comprehensive understanding of the metabolic circuits governing antifungal immunity, combined with the integration of individual host traits, holds the potential to inform novel medical interventions for fungal infections. This review explores recent insights into the immunometabolic regulation of host-fungal interactions and the infection outcome and discusses how the metabolic repurposing of immune cell function could be exploited in innovative and personalized therapeutic approaches., Competing Interests: Conflict of interest statement. C.C. received research funding from Gilead. A.C. received a speaker fee from Gilead., (© The Author(s) 2024. Published by Oxford University Press on behalf of Society for Leukocyte Biology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Published
2024
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45. First Approach to the Aroma Characterization of Monovarietal Red Wines Produced from Varieties Better Adapted to Abiotic Stresses.

Author

Agostinelli F, Caldeira I, Ricardo-da-Silva JM, Damásio M, Egipto R, and Silvestre J

Abstract

Adaptation strategies in the wine sector consist of the use of cultural techniques to limit damages caused by climate change, using, among other resources, varieties better adapted to the scenarios of abiotic stress exacerbation, namely water and thermal stress, as well as those more tolerant to heatwaves. With the intention to determine the aromatic characterization of ten monovarietal wines produced from cultivars with high productive performance in a global warming scenario ('Petit Verdot', 'Marselan', 'Merlot', 'Touriga Franca', 'Syrah', 'Vinhão', 'Bobal', 'Preto Martinho', 'Trincadeira', and 'Alicante Bouschet'), grown in Esporão vineyard (Alentejo, Portugal) and submitted to deficit irrigation (Ks ± 0.5), their aromatic character has been analyzed. Each grape variety was vinified at a small scale, in duplicate, and the wines were evaluated by a sensory panel, which rated several sensory attributes (visual, olfactory, and gustatory). Sensory analysis revealed a discrete appreciation for the monovarietal wines tasted, showing a differentiation at the olfactory level that was not too marked, although present, between the samples. The free volatile compounds were analysed using gas chromatography-olfactometry (GC-O), identified using a gas chromatography-mass spectrometry (GC-MS) technique and semi-quantified using the gas chromatography-flame ionization detector (GC-FID) technique. Based on the interpolation of the results of the various statistical analyses carried out, 49 probable odor active compounds (pOACs) were identified and based on the odor activity values (OAVs), 24 of them were recognized as odor active compounds (OACs) originated mainly during the fermentation processes. An aromatic characterization of the varieties has been proposed.

Published
2023
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46. Shedding Light on Metals Release from Chestnut Wood to Wine Spirit Using ICP-MS.

Author

Catarino S, Thanasi V, Morin G, Anjos O, Fernandes TA, Caldeira I, Fargeton L, Boissier B, and Canas S

Abstract

Possible effects caused by mineral elements during wine spirit ageing are diverse. In this study, the evolution of the mineral composition of wine spirit during ageing with chestnut ( Castanea sativa Mill.) wood was investigated. A wine distillate was aged in 250 L wooden barrels (traditional ageing) and in 50 L glass demijohns with wood staves and micro-oxygenation (alternative ageing). Sampling was performed after 21, 60, 180, 270, and 365 days of ageing. The elemental composition of the wine spirits, including alkaline, alkaline earth metals, and heavy metals, was assessed by quadrupole inductively coupled plasma mass spectrometry (Q-ICP-MS). For most of the elements, no significant differences between wine spirits from distinct ageing modalities were observed. Ageing time had significant effect on most of them, with different trends and distinct magnitude of changes, depending on each specific element. The concentrations of the mineral elements found in the wine spirits were very low, especially those of heavy metals, which is quite positive in terms of quality and food safety. Novel information on metals released from chestnut wood to wine spirits confirms its appropriateness for ageing this beverage.

Published
2022
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47. Identification of gallotannins and ellagitannins in aged wine spirits: A new perspective using alternative ageing technology and high-resolution mass spectrometry.

Author

Fernandes TA, Antunes AMM, Caldeira I, Anjos O, de Freitas V, Fargeton L, Boissier B, Catarino S, and Canas S

Subjects
Mass Spectrometry, Technology, Hydrolyzable Tannins chemistry, Wine
Abstract

This research was focused on identifying gallotannins and ellagitannins degradation pathways to better understand their behavior in complex media such as wine spirits (WS). A WS was aged with chestnut wood staves with three levels of micro-oxygenation, nitrogen, and using wooden barrels. Gallotannins and ellagitannins were identified by LC-ESI-HRMS/MS using a Q-TOF in samples collected at 8, 21, 60, 180, 270, and 365 days of ageing, allowed comparing their relative abundances according to the ageing technology. It was established for the first time, the importance of oxygen in gallotannins and ellagitannins formation/degradation pathways in WS and shading light into the explanation for the steady increase of gallic and ellagic acid contents on WS during ageing. The results also highlighted the presence of penta-O-galloyl-β-d-glucose, tetra-O-galloyl-β-d-glucose, tri-O-galloyl-β-d-glucose, di-O-galloyl-β-d-glucose, and mono-O-galloyl-β-d-glucose, 2,3-(S)-hexahydroxydiphenoyl-β-d-glucose, pedunculagin, isomers vescalagin/castalagin and two products stemming from ethanol-promoted oxidation of castalagin/vescalagin and vescalin/castalin, in the composition WS aged with chestnut wood., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Published
2022
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48. Saccharomyces cerevisiae Diversity in Arbutus unedo L. Fermentations in Association with the Volatile and Sensory Similarities of the Distillates.

Author

Baleiras-Couto MM, Caldeira I, Gomes F, Botelho G, and Duarte FL

Abstract

The fermentation of Arbutus unedo L. fruit is traditionally carried out in the production of spirits. The present study followed the spontaneous fermentation of A. unedo fruit harvested in October and December 2019 by two producers from the central region of Portugal. The microbiota was studied, and although a great diversity of indigenous yeasts was found, S. cerevisiae isolates could still be grouped into eight clusters, and a good separation between producers was achieved. Based on the results of a multivariate analysis of the physical-chemical and volatile composition of the distillates, a distinction between the distillates from the two producers was determined. Moreover, these findings are corroborated by the similarities in flavor that were found. Along with the variability found in the distillates, S. cerevisiae isolates could be clustered and associated with each producer. On the other hand, the differentiation of the harvesting period was not so clear. The characterization of the indigenous yeasts associated with the fermentation process of Arbutus unedo L. fruit can serve as an important contribution to the preservation of the specific characteristics of its distillates.

Published
2022
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49. PLS-R Calibration Models for Wine Spirit Volatile Phenols Prediction by Near-Infrared Spectroscopy.

Author

Anjos O, Caldeira I, Fernandes TA, Pedro SI, Vitória C, Oliveira-Alves S, Catarino S, and Canas S

Subjects
Calibration, Least-Squares Analysis, Phenols analysis, Spectroscopy, Near-Infrared, Wine analysis
Abstract

Near-infrared spectroscopic (NIR) technique was used, for the first time, to predict volatile phenols content, namely guaiacol, 4-methyl-guaiacol, eugenol, syringol, 4-methyl-syringol and 4-allyl-syringol, of aged wine spirits (AWS). This study aimed to develop calibration models for the volatile phenol's quantification in AWS, by NIR, faster and without sample preparation. Partial least square regression (PLS-R) models were developed with NIR spectra in the near-IR region (12,500-4000 cm -1 ) and those obtained from GC-FID quantification after liquid-liquid extraction. In the PLS-R developed method, cross-validation with 50% of the samples along a validation test set with 50% of the remaining samples. The final calibration was performed with 100% of the data. PLS-R models with a good accuracy were obtained for guaiacol (r 2 = 96.34; RPD = 5.23), 4-methyl-guaiacol (r 2 = 96.1; RPD = 5.07), eugenol (r 2 = 96.06; RPD = 5.04), syringol (r 2 = 97.32; RPD = 6.11), 4-methyl-syringol (r 2 = 95.79; RPD = 4.88) and 4-allyl-syringol (r 2 = 95.97; RPD = 4.98). These results reveal that NIR is a valuable technique for the quality control of wine spirits and to predict the volatile phenols content, which contributes to the sensory quality of the spirit beverages.

Published
2021
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50. Influence of the Storage in Bottle on the Antioxidant Activities and Related Chemical Characteristics of Wine Spirits Aged with Chestnut Staves and Micro-Oxygenation.

Author

Oliveira-Alves S, Lourenço S, Anjos O, Fernandes TA, Caldeira I, Catarino S, and Canas S

Subjects
Food Preservation, Molecular Structure, Phenols analysis, Phenols chemistry, Time Factors, Aesculus chemistry, Antioxidants analysis, Food Ingredients analysis, Nuts chemistry, Oxidation-Reduction, Wine analysis
Abstract

Different ageing technology of wine spirits (WSs) has been investigated, but little has been published on the chemical evolution of aged WS during storage in bottle. The purpose of this study was to examine how 12 months of storage in bottle affected the evolution of antioxidant activity (DPPH, FRAP and ABTS assays), total phenolic index (TPI) and low molecular weight (LMW) compounds content of the WSs aged through alternative technology using three micro-oxygenation levels (MOX) and nitrogen control (N). Results revealed the ability of phenolic compounds from aged WSs to scavenge free radicals during storage in bottle. Among the in vitro antioxidant-activity methods, FRAP assay was the more effective to differentiate WSs according to the ageing technology. Concerning the overall influence of storage in bottle on antioxidant activity, and TPI and LMW compounds content, the higher results were obtained for the MOX modalities (O15, O30 and O60), which showed a similar evolution. In summary, this study provides innovative information, demonstrating that the differences between the aged WSs imparted throughout the ageing process (resulting from different MOX levels) were mostly retained, and only slight modifications during storage in bottle were found.

Published
2021
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