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1. Weaning practices in phenylketonuria vary between health professionals in Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, Carla, Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van der Ploeg, E.M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2019
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2. Early feeding practices in infants with phenylketonuria across Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van der Ploeg, E.M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018
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3. Dietary practices in propionic acidemia: A European survey

Author

Daly, A., Pinto, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund Hansen, K., Ter Horst, N.M., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H., and MacDonald, A.

Published
2017
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4. Dietary practices in isovaleric acidemia: A European survey

Author

Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H., and MacDonald, A.

Published
2017
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5. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., MacDonald, A., Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., and MacDonald, A.

Abstract

Contains fulltext : 220058.pdf (Publisher’s version ) (Open Access), Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to

Published
2020

6. Weaning practices in phenylketonuria vary between health professionals in Europe.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M F, Garcia-Arenas, D, Arslan, N, Assoun, M, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, Audrey, Fokkema, L, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Jörg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koç, N, Kok, I L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S M, Pedrón-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Giżewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T A M, van der Ploeg, E M C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A M J, van Wyk, K, Vasconcelos, C, Velez García, V, Wildgoose, J, Winkler, T, Żółkowska, J, Zuvadelli, J, MacDonald, A, UCL - (SLuc) Service d'endocrinologie et de nutrition, Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M F, Garcia-Arenas, D, Arslan, N, Assoun, M, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, Audrey, Fokkema, L, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Jörg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koç, N, Kok, I L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S M, Pedrón-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Giżewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T A M, van der Ploeg, E M C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A M J, van Wyk, K, Vasconcelos, C, Velez García, V, Wildgoose, J, Winkler, T, Żółkowska, J, Zuvadelli, J, and MacDonald, A

Abstract

BACKGROUND: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. METHODS: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. RESULTS: Weaning started at 17-26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. CONCLUSIONS: Weaning strategies vary throu

Published
2019

7. Early feeding practices in infants with phenylketonuria across Europe

Author

UCL - (SLuc) Unité d'endocrinologie pédiatrique, Thom, R., De Theux, A., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, Audrey, Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Meyer, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., UCL - (SLuc) Unité d'endocrinologie pédiatrique, Thom, R., De Theux, A., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, Audrey, Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Meyer, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., and Robertson, L.

Abstract

BACKGROUND: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. METHODS: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. RESULTS: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%. DISCUSSION: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding dev

Published
2018

8. Early feeding practices in infants with phenylketonuria across Europe

Author

Afdeling Dietetiek, Other research (not in main researchprogram), Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A., Afdeling Dietetiek, Other research (not in main researchprogram), Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018

9. Dietary management of urea cycle disorders: European practice.

Author

Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H., Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., and Zweers, H.

Abstract

1 december 2013, Item does not contain fulltext, BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16y and 30% (n=137) >16y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. CONCLUSIONS: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required.

Published
2013

10. Dietary management of urea cycle disorders: European practice

Author

UCL - (SLuc) Centre de pathologie anorectale de l'enfant, Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, Martine, Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R., Jouault, C., Laguerre, C., Le Verge, S., Link, R., Lowry, S., Luyten, K., MacDonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., Vande Kerckhove, K., van Rijn, M., van Teeffelen-Heithoff, A., Wegberg, A.van, van Wyk, K., Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H., UCL - (SLuc) Centre de pathologie anorectale de l'enfant, Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, Martine, Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R., Jouault, C., Laguerre, C., Le Verge, S., Link, R., Lowry, S., Luyten, K., MacDonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., Vande Kerckhove, K., van Rijn, M., van Teeffelen-Heithoff, A., Wegberg, A.van, van Wyk, K., Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., and Zweers, H.

Abstract

Background: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. Methods: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. Results: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16. y and 30% (n=137) >. 16. y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. Conclusions: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required. © 2013 Elsevier Inc.

Published
2013

11. Genomic data provide insights into the classification of extant termites.

Author

Hellemans S, Rocha MM, Wang M, Romero Arias J, Aanen DK, Bagnères AG, Buček A, Carrijo TF, Chouvenc T, Cuezzo C, Constantini JP, Constantino R, Dedeine F, Deligne J, Eggleton P, Evans TA, Hanus R, Harrison MC, Harry M, Josens G, Jouault C, Kalleshwaraswamy CM, Kaymak E, Korb J, Lee CY, Legendre F, Li HF, Lo N, Lu T, Matsuura K, Maekawa K, McMahon DP, Mizumoto N, Oliveira DE, Poulsen M, Sillam-Dussès D, Su NY, Tokuda G, Vargo EL, Ware JL, Šobotník J, Scheffrahn RH, Cancello E, Roisin Y, Engel MS, and Bourguignon T

Subjects
Animals, Genome, Insect, Isoptera genetics, Isoptera classification, Phylogeny, Genomics methods
Abstract

The higher classification of termites requires substantial revision as the Neoisoptera, the most diverse termite lineage, comprise many paraphyletic and polyphyletic higher taxa. Here, we produce an updated termite classification using genomic-scale analyses. We reconstruct phylogenies under diverse substitution models with ultraconserved elements analyzed as concatenated matrices or within the multi-species coalescence framework. Our classification is further supported by analyses controlling for rogue loci and taxa, and topological tests. We show that the Neoisoptera are composed of seven family-level monophyletic lineages, including the Heterotermitidae Froggatt, Psammotermitidae Holmgren, and Termitogetonidae Holmgren, raised from subfamilial rank. The species-rich Termitidae are composed of 18 subfamily-level monophyletic lineages, including the new subfamilies Crepititermitinae, Cylindrotermitinae, Forficulitermitinae, Neocapritermitinae, Protohamitermitinae, and Promirotermitinae; and the revived Amitermitinae Kemner, Microcerotermitinae Holmgren, and Mirocapritermitinae Kemner. Building an updated taxonomic classification on the foundation of unambiguously supported monophyletic lineages makes it highly resilient to potential destabilization caused by the future availability of novel phylogenetic markers and methods. The taxonomic stability is further guaranteed by the modularity of the new termite classification, designed to accommodate as-yet undescribed species with uncertain affinities to the herein delimited monophyletic lineages in the form of new families or subfamilies., (© 2024. The Author(s).)

Published
2024
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13. Morphological and palaeoecological aspects of fossil insects unveiled by UV-A light.

Author

Boderau M, Jouault C, Aracheloff C, Ngô-Muller V, Engel MS, Berthier S, Schöllhorn B, Huang D, Nel A, and Garrouste R

Abstract

Studying insect fossils, particularly those preserved as compressions in sedimentary matrices, can be difficult due to the taphonomic processes that often result to poor preservation and contrast of structures compared to the embedding matrix. To address this, we propose a user-friendly and simple methodology based on UV-light to study insect fossils and select specimens of interest for more advanced imagery exploration. While UV-light imaging has been previously applied to compressions of arthropod fossils, it typically involved laser light sources. Our approach allows the investigation of fossils using an affordable, compact, and portable UV-light source, along with a simple and replicable low-cost protocol. •The methodology is based on UV-light induced natural fluorescence of sediment and fossil remains.•UV-light is effective on compression fossils to gain natural contrast and enhance observation of body structures like veins or setae on wings.•UV-light is effective to reveal palaeoecological information such as pollen grains preserved on specimens, especially near or on putative pollinator or pollen-eating taxa., Competing Interests: The authors declare there is no conflict of interests., (© 2024 The Authors. Published by Elsevier B.V.)

Published
2024
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14. A New Genus of Praeaulacidae (Hymenoptera: Evanioidea) from Mid-Cretaceous Kachin Amber: Insights into a Putative New Praeaulacinae Subclade.

Author

Yang J, Jouault C, Li L, Shih C, and Ren D

Abstract

A new praeaulacid genus and species, Azygdellitha nova gen. et sp. nov., is described and illustrated based on a male specimen from mid-Cretaceous Kachin amber from Hukawng Valley, Myanmar. This newly discovered taxon increased the diversity of praeaulacid wasps during the Cretaceous period. While this new taxon shares similarities of wing venation with most species of the subfamily Praeaulacinae, it strongly differs from that of three genera previously described from mid-Cretaceous Kachin amber: Mesevania , Paleosyncrasis , and Praegastrinus . We explore the possibility that these genera constitute a distinct tribe within the Praeaulacinae, distinguished by their wing venation. We provide illustrations and emphasize the potentially diagnostic traits supporting this classification.

Published
2024
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15. The Angiosperm Terrestrial Revolution buffered ants against extinction.

Author

Jouault C, Condamine FL, Legendre F, and Perrichot V

Subjects
Animals, Phylogeny, Biological Evolution, Fossils, Extinction, Biological, Biodiversity, Ants, Magnoliopsida
Abstract

With ~14,000 extant species, ants are ubiquitous and of tremendous ecological importance. They have undergone remarkable diversification throughout their evolutionary history. However, the drivers of their diversity dynamics are not well quantified or understood. Previous phylogenetic analyses have suggested patterns of diversity dynamics associated with the Angiosperm Terrestrial Revolution (ATR), but these studies have overlooked valuable information from the fossil record. To address this gap, we conducted a comprehensive analysis using a large dataset that includes both the ant fossil record (~24,000 individual occurrences) and neontological data (~14,000 occurrences), and tested four hypotheses proposed for ant diversification: co-diversification, competitive extinction, hyper-specialization, and buffered extinction. Taking into account biases in the fossil record, we found three distinct diversification periods (the latest Cretaceous, Eocene, and Oligo-Miocene) and one extinction period (Late Cretaceous). The competitive extinction hypothesis between stem and crown ants is not supported. Instead, we found support for the co-diversification, buffered extinction, and hyper-specialization hypotheses. The environmental changes of the ATR, mediated by the angiosperm radiation, likely played a critical role in buffering ants against extinction and favoring their diversification by providing new ecological niches, such as forest litter and arboreal nesting sites, and additional resources. We also hypothesize that the decline and extinction of stem ants during the Late Cretaceous was due to their hyper-specialized morphology, which limited their ability to expand their dietary niche in changing environments. This study highlights the importance of a holistic approach when studying the interplay between past environments and the evolutionary trajectories of organisms., Competing Interests: Competing interests statement:The authors declare no competing interest.

Published
2024
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16. Multiple drivers and lineage-specific insect extinctions during the Permo-Triassic.

Author

Jouault C, Nel A, Perrichot V, Legendre F, and Condamine FL

Subjects
Animals, Ecosystem, Insecta
Abstract

The Permo-Triassic interval encompasses three extinction events including the most dramatic biological crisis of the Phanerozoic, the latest Permian mass extinction. However, their drivers and outcomes are poorly quantified and understood for terrestrial invertebrates, which we assess here for insects. We find a pattern with three extinctions: the Roadian/Wordian (≈266.9 Ma; extinction of 64.5% insect genera), the Permian/Triassic (≈252 Ma; extinction of 82.6% insect genera), and the Ladinian/Carnian boundaries (≈237 Ma; extinction of 74.8% insect genera). We also unveil a heterogeneous effect of these extinction events across the major insect clades. Because extinction events have impacted Permo-Triassic ecosystems, we investigate the influence of abiotic and biotic factors on insect diversification dynamics and find that changes in floral assemblages are likely the strongest drivers of insects' responses throughout the Permo-Triassic. We also assess the effect of diversity dependence between three insect guilds; an effect ubiquitously found in current ecosystems. We find that herbivores held a central position in the Permo-Triassic interaction network. Our study reveals high levels of insect extinction that profoundly shaped the evolutionary history of the most diverse non-microbial lineage., (© 2022. The Author(s).)

Published
2022
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17. Phylogenomic Analyses of the Tenthredinoidea Support the Familial Rank of Athaliidae (Insecta, Tenthredinoidea).

Author

Niu G, Budak M, Korkmaz EM, Doğan Ö, Nel A, Wan S, Cai C, Jouault C, Li M, and Wei M

Abstract

The systematic status of the genus Athalia and related genera is a perennial controversy in sawfly taxonomy. Several authors have hypothesized that the placement of Athalia within the Tenthredinidae is artificial, but no studies have focused on this topic. If the hypothesis that Athalia does not belong to Tenthredinidae can be supported, the taxonomic framework of Tenthredinoidea needs revision. We present a comprehensive phylogenomic study of Tenthredinoidae, focusing on the positions of Athalia and related genera by sampling 80 representatives mainly of the Tenthredinoidea, including Heptamelinae and Blasticotomidae. Our phylogenetic reconstructions based on nuclear genes and mitochondrial (mt) sequences support Athalia and related genera as a distinct clade sister to Tenthredinidae + (Cimbicidae + Diprionidae). A comparison of symphytan mitochondrial genomes reveals an innovative gene rearrangement pattern in Athaliidae, in which Dentathalia demonstrates a more ancestral pattern than Athalia and Hypsathalia . The lineage specificity of mt rRNA secondary structures also provides sufficient support to consider Athaliidae as a separate family. In summary, the phylogeny and genomic structural changes unanimously support the taxonomic treatment of Athaliidae as a family and the re-establishment of Dentathalia as a valid genus.

Published
2022
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18. Becoming a Mother During COVID-19 Pandemic: How to Protect Maternal Mental Health Against Stress Factors.

Author

Bottemanne H, Vahdat B, Jouault C, Tibi R, and Joly L

Abstract

During the COVID-19 pandemic, there were an increasing prevalence of perinatal psychiatric symptoms, such as perinatal anxiety, depression, and post-traumatic stress disorders. This growth could be caused by a range of direct and indirect stress factors related to the virus and changes in health, social and economic organization. In this review, we explore the impact of COVID-19 pandemic on perinatal mental health, and propose a range of hypothesis about their etiological mechanisms. We suggest first that the fear of being infected or infected others (intrauterine transmission, passage of the virus from mother to baby during childbirth, infection through breast milk), and the uncertainty about the effect of the virus on the fetuses and infants may have played a key-role to weakening the mental health of mothers. We also highlight that public health policies such as lockdown, limiting prenatal visits, social distancing measures, and their many associated socio-economic consequences (unemployment, loss of income, and domestic violence) may have been an additional challenge for perinatal mental health. Ground on these hypotheses, we finally purpose some recommendations to protect perinatal mental health during a pandemic, including a range of specific support based on digital technologies (video consultations, phone applications) during pregnancy and the postpartum period., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Bottemanne, Vahdat, Jouault, Tibi and Joly.)

Published
2022
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19. The First Fossil Representatives of the Sawfly Genera Emphytus and Empria from the upper Miocene of France (Hymenoptera, Tenthredinidae).

Author

Nel A, Sammut RM, Wei M, Niu G, and Jouault C

Abstract

Emphytus miocenicus sp. nov., first fossil representative of this genus, is described from the upper Miocene of the diatom paleolake of Montagne d'Andance (Ardèche, France). Its placement is ensured by an in-depth comparison with all the extant and fossil genera of the subfamily Allantinae. The representatives of Emphytus are distributed in the Palearctic, Nearctic, and Oriental regions. Empria sammuti sp. nov., second representative of the latter genus, is described from the latest Miocene of the diatom paleolake of Sainte-Reine (Cantal, France). The placement of this new species is based on a detailed comparison with the extant genera of the tribe Empriini. The larvae of the extant Emphytus and Empria spp. are known to be phytophagous on angiosperm leaves of several families, all present as fossils in the taphocenoses of la Montagne d'Andance and Sainte-Reine. Emphytus miocenicus sp. nov. represents the oldest record of this genus and of its crown group, corroborating the estimate of a middle Eocene-middle Oligocene age for its stem group. Throughout our study, it appears that the first described fossil of the genus Empria , E. oligocaenica, from the Oligocene of Germany, needs to be revised and redescribed. It should preferably be treated until the revision as incertae sedis in Allantinae sensu lato .

Published
2022
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