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1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Author

Altassan, R., Peanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M.E. de la, Lonlay, P. de, Reis, V. Dos, Ferreira, C.R., Fiumara, A., Francisco, R., Freeze, H., Funke, S., Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grunewald, S., Hernandez-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D.J., Marques-de-Silva, D., Martinez, A.F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczynska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C, Tort, F., Vals, M.A., Videira, P., Witters, P., Zeevaert, R., Morava, E., Altassan, R., Peanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M.E. de la, Lonlay, P. de, Reis, V. Dos, Ferreira, C.R., Fiumara, A., Francisco, R., Freeze, H., Funke, S., Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grunewald, S., Hernandez-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D.J., Marques-de-Silva, D., Martinez, A.F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczynska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C, Tort, F., Vals, M.A., Videira, P., Witters, P., Zeevaert, R., and Morava, E.

Abstract

Contains fulltext : 203022.pdf (publisher's version ) (Closed access), Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.

Published
2019

2. XXI. The integrated Sachs-Wolfe effect

Author

Ade, P. A. R., Aghanim, N., Arnaud, M., Ashdown, M., Aumont, J., Baccigalupi, C., Banday, A. J., Barreiro, R. B., Bartolo, N., Basak, S., Battaner, E., Benabed, K., Benoit, A., Benoit-Levy, A., Bernard, J. -P., Bersanelli, M., Bielewicz, P., Bock, J. J., Bonaldi, A., Bonavera, L., Bond, J. R., Borri, J., Bouchet, F. R., Bucher, M., Burigana, C., Butler, R. C., Calabrese, E., Cardoso, J. -F., Casaponsa, B., Catalano, A., Challinor, A., Chamballu, A., Chiang, H. C., Christensen, P. R., Church, S., Clements, D. L., Colombi, S., Colombo, L. P. L., Combet, C., Couchot, F., Coulais, A., Crill, B. P., Curto, A., Cuttaia, F., Danese, L., Davies, R. D., Davis, R. J., de Bernardis, P., de Rosa, A., de Zotti, G., Delabrouille, J., Desert, F. -X., Diego, J. M., Dole, H., Donzelli, S., Dore, O., Douspis, M., Ducout, A., Dupac, X., Efstathiou, G., Elsner, F., Ensslin, T. A., Eriksen, H. K., Fergusson, J., Fernandez-Cobos, R., Finelli, F., Forni, O., Frailis, M., Fraisse, A. A., Franceschi, E., Frejsel, A., Galeotta, S., Galli, S., Ganga, K., Genova-Santos, R. T., Girad, M., Giraud-Heraud, Y., Gjerlow, E., Gonzalez-Nuevo, J., Gorski, K. M., Gratton, S., Gregorio, A., Gruppuso, A., Gudmundsson, Jón E., Hansen, F. K., Hanson, D., Harrison, D. L., Henrot-Versille, S., Hernandez-Monteagudo, C., Herranz, D., Hildebrandt, S. R., Hivon, E., Hobson, M., Holmes, W. A., Hornstrup, A., Hovest, W., Huffenberger, K. M., Hurier, G., Ilic, S., Jaffe, A. H., Jaffe, T. R., Jones, W. C., Juvela, M., Keihanen, E., Keskitalo, R., Kisner, T. S., Kneiss, R., Knoche, J., Kunz, M., Kurki-Suonio, H., Lagache, G., Lahteenmaki, A., Lamarre, J. -M., Langer, M., Lasenby, A., Lattanzi, M., Lawrence, C. R., Leonardi, R., Lesgourgues, J., Levrier, F., Liguori, M., Lilje, P. B., Linden-Vornle, M., Lopez-Caniego, M., Lubin, P. M., Ma, Y. -Z., Macias-Perez, J. F., Maggio, G., Maino, D., Mandolesi, N., Mangilli, A., Marcos-Caballero, A., Maris, M., Martin, P. G., Martinez-Gonzalez, E., Masi, S., Matarrese, S., McGehee, P., Meinhold, P. R., Melchiorri, A., Mendes, L., Mennella, A., Migliaccio, M., Mitra, S., Miville-Deschenes, M. -A., Moneti, A., Montier, L., Morgante, G., Mortlock, D., Moss, A., Munshi, D., Murphy, J. A., Naselsky, P., Nati, F., Natoli, P., Netterfield, C. B., Norgaard-Nielsen, H. U., Noviello, F., Novikov, D., Novikov, I., Oxborrow, C. A., Paci, F., Pagano, L., Pajot, F., Paoletti, D., Pasian, F., Patanchon, G., Perdereau, O., Perotto, L., Perrotta, F., Pettorino, V., Piacentini, F., Piat, M., Pierpaoli, E., Pietrobon, D., Plaszczynski, S., Pointecouteau, E., Polenta, G., Popa, L., Pratt, G. W., Prezeau, G., Prunet, S., Puget, J. -L., Rachen, J. P., Reach, W. T., Rebolo, R., Reinecke, M., Remazeilles, M., Renault, C., Renzi, A., Ristorcelli, I., Rocha, G., Rosset, C., Rossetti, M., Roudier, G., Rubino-Martin, J. A., Rusholme, B., Sandri, M., Santos, D., Savelainen, M., Savini, G., Schaefer, B. M., Scott, D., Seiffert, M. D., Shellard, E. P. S., Spencer, L. D., Stolyarov, V., Stompor, R., Sudiwala, R., Sunyaev, R., Sutton, D., Suur-Uski, A. -S., Sygnet, J. -F., Tauber, J. A., Terenzi, L., Toffolatti, L., Tomasi, M., Tristram, M., Tucci, M., Tuovinen, J., Valenziano, L., Valiviita, J., Van Tent, F., Vielva, P., Villa, F., Wade, L. A., Wandelt, B. D., Wehus, I. K., Yvon, D., Zacchei, A., Zonca, A., Ade, P. A. R., Aghanim, N., Arnaud, M., Ashdown, M., Aumont, J., Baccigalupi, C., Banday, A. J., Barreiro, R. B., Bartolo, N., Basak, S., Battaner, E., Benabed, K., Benoit, A., Benoit-Levy, A., Bernard, J. -P., Bersanelli, M., Bielewicz, P., Bock, J. J., Bonaldi, A., Bonavera, L., Bond, J. R., Borri, J., Bouchet, F. R., Bucher, M., Burigana, C., Butler, R. C., Calabrese, E., Cardoso, J. -F., Casaponsa, B., Catalano, A., Challinor, A., Chamballu, A., Chiang, H. C., Christensen, P. R., Church, S., Clements, D. L., Colombi, S., Colombo, L. P. L., Combet, C., Couchot, F., Coulais, A., Crill, B. P., Curto, A., Cuttaia, F., Danese, L., Davies, R. D., Davis, R. J., de Bernardis, P., de Rosa, A., de Zotti, G., Delabrouille, J., Desert, F. -X., Diego, J. M., Dole, H., Donzelli, S., Dore, O., Douspis, M., Ducout, A., Dupac, X., Efstathiou, G., Elsner, F., Ensslin, T. A., Eriksen, H. K., Fergusson, J., Fernandez-Cobos, R., Finelli, F., Forni, O., Frailis, M., Fraisse, A. A., Franceschi, E., Frejsel, A., Galeotta, S., Galli, S., Ganga, K., Genova-Santos, R. T., Girad, M., Giraud-Heraud, Y., Gjerlow, E., Gonzalez-Nuevo, J., Gorski, K. M., Gratton, S., Gregorio, A., Gruppuso, A., Gudmundsson, Jón E., Hansen, F. K., Hanson, D., Harrison, D. L., Henrot-Versille, S., Hernandez-Monteagudo, C., Herranz, D., Hildebrandt, S. R., Hivon, E., Hobson, M., Holmes, W. A., Hornstrup, A., Hovest, W., Huffenberger, K. M., Hurier, G., Ilic, S., Jaffe, A. H., Jaffe, T. R., Jones, W. C., Juvela, M., Keihanen, E., Keskitalo, R., Kisner, T. S., Kneiss, R., Knoche, J., Kunz, M., Kurki-Suonio, H., Lagache, G., Lahteenmaki, A., Lamarre, J. -M., Langer, M., Lasenby, A., Lattanzi, M., Lawrence, C. R., Leonardi, R., Lesgourgues, J., Levrier, F., Liguori, M., Lilje, P. B., Linden-Vornle, M., Lopez-Caniego, M., Lubin, P. M., Ma, Y. -Z., Macias-Perez, J. F., Maggio, G., Maino, D., Mandolesi, N., Mangilli, A., Marcos-Caballero, A., Maris, M., Martin, P. G., Martinez-Gonzalez, E., Masi, S., Matarrese, S., McGehee, P., Meinhold, P. R., Melchiorri, A., Mendes, L., Mennella, A., Migliaccio, M., Mitra, S., Miville-Deschenes, M. -A., Moneti, A., Montier, L., Morgante, G., Mortlock, D., Moss, A., Munshi, D., Murphy, J. A., Naselsky, P., Nati, F., Natoli, P., Netterfield, C. B., Norgaard-Nielsen, H. U., Noviello, F., Novikov, D., Novikov, I., Oxborrow, C. A., Paci, F., Pagano, L., Pajot, F., Paoletti, D., Pasian, F., Patanchon, G., Perdereau, O., Perotto, L., Perrotta, F., Pettorino, V., Piacentini, F., Piat, M., Pierpaoli, E., Pietrobon, D., Plaszczynski, S., Pointecouteau, E., Polenta, G., Popa, L., Pratt, G. W., Prezeau, G., Prunet, S., Puget, J. -L., Rachen, J. P., Reach, W. T., Rebolo, R., Reinecke, M., Remazeilles, M., Renault, C., Renzi, A., Ristorcelli, I., Rocha, G., Rosset, C., Rossetti, M., Roudier, G., Rubino-Martin, J. A., Rusholme, B., Sandri, M., Santos, D., Savelainen, M., Savini, G., Schaefer, B. M., Scott, D., Seiffert, M. D., Shellard, E. P. S., Spencer, L. D., Stolyarov, V., Stompor, R., Sudiwala, R., Sunyaev, R., Sutton, D., Suur-Uski, A. -S., Sygnet, J. -F., Tauber, J. A., Terenzi, L., Toffolatti, L., Tomasi, M., Tristram, M., Tucci, M., Tuovinen, J., Valenziano, L., Valiviita, J., Van Tent, F., Vielva, P., Villa, F., Wade, L. A., Wandelt, B. D., Wehus, I. K., Yvon, D., Zacchei, A., and Zonca, A.

Abstract

This paper presents a study of the integrated Sachs-Wolfe (ISW) effect from the Planck 2015 temperature and polarization data release. This secondary cosmic microwave background (CMB) anisotropy caused by the large-scale time-evolving gravitational potential is probed from different perspectives. The CMB is cross-correlated with different large-scale structure (LSS) tracers: radio sources from the NVSS catalogue; galaxies from the optical SDSS and the infrared WISE surveys; and the Planck 2015 convergence lensing map. The joint cross-correlation of the CMB with the tracers yields a detection at 4 sigma where most of the signal-to-noise is due to the Planck lensing and the NVSS radio catalogue. In fact, the ISW effect is detected from the Planck data only at approximate to 3 sigma (through the ISW-lensing bispectrum), which is similar to the detection level achieved by combining the cross-correlation signal coming from all the galaxy catalogues mentioned above. We study the ability of the ISW effect to place constraints on the dark-energy parameters; in particular, we show that Omega(Lambda) is detected at more than 3 sigma. This cross-correlation analysis is performed only with the Planck temperature data, since the polarization scales available in the 2015 release do not permit significant improvement of the CMB-LSS cross-correlation detectability. Nevertheless, the Planck polarization data are used to study the anomalously large ISW signal previously reported through the aperture photometry on stacked CMB features at the locations of known superclusters and supervoids, which is in conflict with Lambda CDM expectations. We find that the current Planck polarization data do not exclude that this signal could be caused by the ISW effect. In addition, the stacking of the Planck lensing map on the locations of superstructures exhibits a positive cross-correlation with these large-scale structures. Finally, we have improved our previous reconstruction of the ISW temperat

Published
2016
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5. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Author

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, and Morava E

Subjects
Follow-Up Studies, Glycosylation, Humans, Congenital Disorders of Glycosylation diagnosis, Congenital Disorders of Glycosylation drug therapy, Phosphotransferases (Phosphomutases) deficiency
Abstract

Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients., (© 2019 SSIEM.)

Published
2019
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6. Accuracy of maternal reports of pre-schoolers' weights and heights as estimates of BMI values.

Author

Dubois L and Girad M

Subjects
Child, Preschool, Cohort Studies, Educational Status, Emigration and Immigration, Female, Humans, Male, Mothers psychology, Obesity epidemiology, Overweight, Population Surveillance methods, Quebec epidemiology, Rural Health, Sex Factors, Socioeconomic Factors, Urban Health, Body Height, Body Mass Index, Body Weight
Abstract

Background: Data is lacking on the reliability of weight and height for young children as reported by parents participating in population-based studies. We analysed the accuracy of parental reports of children's weights and heights as estimates of body mass index, and evaluated the factors associated with the misclassification of overweight and obese children., Methods: Analyses were conducted on a population-based birth cohort of 1549 4-year-old children from the province of Québec (Canada) in 2002. Mothers reported weights and heights for the children as part of the regular annual data collection. Within the following 3 months, children's weights and heights were measured at home as part of a nutrition survey., Results: This study indicates that mothers overestimate their children's weight more than their height, resulting in an overestimation of overweight children of more than 3% in the studied population. Only 58% of the children were reported as overweight/obese with reported values. Maternal misreporting is more important for boys than girls, and for low socioeconomic status children compared with high socioeconomic status children., Conclusions: Research on the prevalence of overweight and obesity has often used self-reported measures of height and weight to estimate BMI. However, the results emphasize the importance of collecting measured data in childhood studies of overweight and obesity at the population level.

Published
2007
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