Marfan syndrome in childhood: parents’ perspectives of the impact on daily functioning of children, parents and family; a qualitative study

Autor: Jessica Warnink-Kavelaars, Anita Beelen, Sarah Dekker, Frans Nollet, Leonie A. Menke, Raoul H. H. Engelbert

Publikováno v: BMC Pediatrics, Vol 19, Iss 1, Pp 1-10 (2019)

Abstract Background Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, ophthalmic, pulmonary

Externí odkaz: https://doaj.org/article/4154c3683c0a47aba3beb26c62fbcca8

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships

Autor: Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke

Publikováno v: American journal of medical genetics. Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 191, 2, pp. 479-489
The American Journal of Medical Genetics-Part A, 191(2), 479-489. WILEY
American Journal of Medical Genetics, Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 191(2), 479-489. Wiley
American Journal of Medical Genetics. Part A, 191, 479-489
American journal of medical genetics : part A
American Journal of Medical Genetics, Part A, 191(2). Wiley
American journal of medical genetics. Part A. Wiley-Liss Inc.
Lauffer, P, Pals, G, Zwinderman, A H, Postema, F A M, Baars, M J H, Dulfer, E, Hilhorst-Hofstee, Y, Houweling, A C, Kempers, M, Krapels, I P C, van de Laar, I M B H, Loeys, B, Spaans, A M J, Warnink-Kavelaars, J, de Waard, V, Wit, J M & Menke, L A 2023, ' Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 479-489 . https://doi.org/10.1002/ajmg.a.63047

Contains fulltext : 291333.pdf (Publisher’s version ) (Open Access) To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf63bc3c8b0e7ba50b2144750c962866
https://doi.org/10.1002/ajmg.a.63047

Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs

Autor: Lisanne E. de Koning, Anita Beelen, Tine M. H. J. Goedhart, Raoul H.H. Engelbert, Leonie A. Menke, M. W. Alsem, Jessica Warnink-Kavelaars, Frans Nollet

Publikováno v: European Journal of Pediatrics
European journal of pediatrics, 178, 1883-1892. Springer Verlag
European journal of pediatrics, 178(12), 1883-1892. Springer Verlag

Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df00235c003f1cb9e663edae7355d256
https://doi.org/10.1007/s00431-019-03469-7

Marfan syndrome in childhood: Parents' perspectives of the impact on daily functioning of children, parents and family; A qualitative study

Autor: Anita Beelen, Leonie A. Menke, Sarah Dekker, Jessica Warnink-Kavelaars, Frans Nollet, Raoul H.H. Engelbert

Publikováno v: BMC pediatrics, 19(1):262. BioMed Central
BMC Pediatrics, Vol 19, Iss 1, Pp 1-10 (2019)
BMC Pediatrics, 19(1):262. BioMed Central
BMC Pediatrics, 19:262. Springer Verlag
BMC Pediatrics

Background Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, ophthalmic, pulmonary systems a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7c60b100d585a4ca00a54573147c80
https://pure.amc.nl/en/publications/marfan-syndrome-in-childhood-parents-perspectives-of-the-impact-on-daily-functioning-of-children-parents-and-family-a-qualitative-study(85f6713f-ea45-4847-a52c-ea68ebf9f4b1).html

Botulinum neurotoxin treatment in children with cerebral palsy: validation of a needle placement protocol using passive muscle stretching and relaxing

Autor: R. Jeroen Vermeulen, Jessica Warnink-Kavelaars, Annemieke I. Buizer, Jules G. Becher

Publikováno v: Warnink-Kavelaars, J, Vermeulen, R J, Buizer, A I & Becher, J G 2016, ' Botulinum neurotoxin treatment in children with cerebral palsy: validation of a needle placement protocol using passive muscle stretching and relaxing ', Developmental Medicine and Child Neurology, vol. 58, no. 12, pp. 1281-1287 . https://doi.org/10.1111/dmcn.13176
Developmental Medicine and Child Neurology, 58(12), 1281-1287. Wiley-Blackwell
Developmental medicine and child neurology, 58(12), 1281-1287. Wiley-Blackwell
Developmental Medicine and Child Neurology, 58(12), 1281-1287. Wiley

Aim To validate a detailed intramuscular needle placement protocol using passive muscle stretching and relaxing for botulinum neurotoxin type A (BoNT-A) treatment in the lower extremity of children with spastic cerebral palsy (CP), with verification

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40656389cabdaec697393a63e98fa055
https://pubmed.ncbi.nlm.nih.gov/27381267