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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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4. 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

6. 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

13. The portuguese version of the personal and social performance scale (PSP): reliability, validity, and relationship with cognitive measures in hospitalized and community schizophrenia patients

Author

Brissos, S., primary, Marques, J.G., additional, Palhavã, F., additional, Mexia, S., additional, Carmo, A.L., additional, Carvalho, M., additional, Dias, C., additional, Franco, J.D., additional, Mendes, R., additional, Zuzarte, P., additional, Carita, A.I., additional, Molodynski, A., additional, and Figueira, M.L., additional

Published
2011
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15. Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.

Author

Lipari Pinto P, Florindo C, Janeiro P, Santos RL, Mexia S, Rocha H, Tavares de Almeida I, Vilarinho L, and Gaspar A

Subjects
Infant, Pregnancy, Male, Female, Infant, Newborn, Humans, Hydroxocobalamin, Infant Health, Vitamin B 12, Early Diagnosis, Biomarkers, Homocysteine, Methylmalonic Acid, Vitamin B 12 Deficiency diagnosis, Vitamin B 12 Deficiency drug therapy
Abstract

The early diagnosis of and intervention in vitamin B12 deficiency in exclusively breastfed infants by mothers with low vitamin B12 is crucial in preventing possible irreversible neurologic damage, megaloblastic anemia, and failure to thrive. We assess the usefulness of the early detection of asymptomatic B12 deficiency related to acquired conditions and highlight the importance of monitoring serum vitamin B12 levels during pregnancy. We describe demographic, clinical, dietary, and biochemical data, including the evolution of a vitamin B12 deficiency's functional biomarkers. We enrolled 12 newborns (5 males) with an age range of 1-2 months old that were exclusively breastfed and asymptomatic. These cases were referred to our metabolic unit due to alterations in expanded newborn screening: high levels of methylmalonic acid and/or total homocysteine (tHcy). All mothers were under a vegetarian diet except three who had abnormal B12 absorption, and all presented low or borderline serum B12 level and high plasma levels of tHcy. Supplementation with oral vitB12 re-established the metabolic homeostasis of the mothers. In infants, therapy with an intramuscular injection of 1.0 mg hydroxocobalamin led to the rapid normalization of the metabolic pattern, and a healthy outcome was observed. Acquired B12 deficiency should be ruled out before proceeding in a differential diagnosis of cobalamin metabolism deficits, methylmalonic acidemia, and homocystinuria.

Published
2022
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16. The Portuguese version of the Personal and Social Performance Scale (PSP): reliability, validity, and relationship with cognitive measures in hospitalized and community schizophrenia patients.

Author

Brissos S, Palhavã F, Marques JG, Mexia S, Carmo AL, Carvalho M, Dias C, Franco JD, Mendes R, Zuzarte P, Carita AI, Molodynski A, and Figueira ML

Subjects
Adolescent, Adult, Aged, Female, Humans, Male, Middle Aged, Portugal, Psychometrics, Schizophrenia diagnosis, Severity of Illness Index, Young Adult, Cognition, Hospitalization, Interpersonal Relations, Language, Psychiatric Status Rating Scales standards, Schizophrenia physiopathology
Abstract

Purpose: Deficits in social functioning are a core feature of schizophrenia and are influenced by both symptomatic and neurocognitive variables. In the present study we aimed to determine the reliability and validity of the Portuguese version of the Personal and Social Performance (PSP) scale, and possible correlations with measures of cognitive functioning., Methods: One-hundred and four community and inpatients with schizophrenia were assessed using measures of social functioning and symptom severity alongside measures of executive function, processing speed, and verbal memory., Results: Convergent validity with the GAF in the four domains of the PSP varied from 0.357 to 0.899. Reliability was found to be satisfactory, with a Cronbach's alpha coefficient of 0.789. Inter-rater reliability in the four domains of the PSP varied from 0.430 to 0.954. Low-functioning patients (PSP < 70) were older, had longer duration of illness, were more symptomatic and had worse cognitive performances, as compared with high-functioning patients (PSP ≥ 70). In a regression model, deficits in social functioning were strongly predicted both by symptomatic and neurocognitive variables; these together accounted for up to 62% of the variance., Conclusions: The present study supports the reliability and validity of the Portuguese language version of the PSP and further supports the original measure. The co-administration of brief cognitive assessments with measures of functioning may lead to more focused interventions, possibly improving outcomes in this group.

Published
2012
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