Collaborating to advance interdisciplinary care for individuals with arthrogryposis.

arthrogryposis detection genetics interdisciplinarity orthopedics rehabilitation research

Journal

American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745

Informations de publication

Date de publication:
09 2019
Historique:
received: 14 08 2019
accepted: 14 08 2019
pubmed: 1 9 2019
medline: 23 4 2020
entrez: 1 9 2019
Statut: ppublish

Résumé

This Special Issue on Interdisciplinary Care in Arthrogryposis highlights a collection of articles spanning topics in interdisciplinary care, genetic discoveries, and clinical research. An international group of clinicians and researchers from various backgrounds who attended the "3rd International Symposium on Arthrogryposis", held in Philadelphia, September 24-26, 2018, were invited to contribute to this issue. The goal of the 2018 Symposium and of this Special Issue is to provide momentum to advancing evidence-based practice and research in arthrogryposis, by working collaboratively with adults and families of children with arthrogryposis, clinicians, and researchers. The contents of this issue cover a range of topics from defining and classifying arthrogryposis multiplex congenita to early detection, rehabilitation, and orthopedic management, advances in genetic pathways, patient registries, autopsy guidelines, and research findings in the pediatric and adult populations with arthrogryposis. We hope that this issue provides an overview as well as new knowledge on arthrogryposis to generate more conversations at the international level, and advance care and research for individuals with arthrogryposis.

Identifiants

pubmed: 31471949
doi: 10.1002/ajmg.c.31741
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

273-276

Informations de copyright

© 2019 Wiley Periodicals, Inc.

Références

Bedard, T., & Lowry, R. B. (2019). Disease coding systems for arthrogryposis multiplex congenita. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Dahan-Oliel, N., Cachecho, S., Barnes, D., Bedard, T., Davison, A. M., Dieterich, K., … Hall, J. G. (2019). International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Dahan-Oliel, N., Hall, J., Samargian, A., Sawatzky, B., & van Bosse, H. (2019). Summary of the 3rd international symposium on arthrogryposis. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Dahan-Oliel, N., van Bosse, H. J. P., Bedard, T., Darsaklis, V. B., Hall, J. G., & Hamdy, R. C. (2019). Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Dieterich, K., Le Tanno, P., Kimber, E., Jouk, P. S., Hall, J., & Giampietro, P. (2019). The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Filges, I., Tercanli, S., & Hall, J. G. (2019). Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Hall, J. G., Kimber, E., & Dieterich, K. (2019). Classification of arthrogryposis. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Hamdy, R. C., van Bosse, H., Altiok, H., Abu-Dalu, K., Kotlarsky, P., Fafara, A., & Eidelman, M. (2019). Treatment and outcomes of arthrogryposis in the lower extremity. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Kiefer, J., & Hall, J. G. (2019). Gene ontology analysis of arthrogryposis (multiple congenital contractures). American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Lester, R., Hall, J. G., Pontén, E., & van Bosse, H. J. P. (2017). Background to the 2nd international symposium on arthrogryposis. Journal of Pediatric Orthopedics, 37(1), S2-S3. https://doi.org/10.1097/BPO.0000000000000996
Lowry, R. B., Sibbald, B., Bedard, T., & Hall, J. G. (2010). Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Research. Part A, Clinical and Molecular Teratology, 88(12), 1057-1061.
Oberg, K. C., Magaki, S., & Hall, J. G. (2019). A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Oishi, S., Agranovich, O., Zlotolow, D., Wall, L., Stutz, C., Pajardi, G., … Beckwith, T. (2019). Treatment and outcomes of arthrogryposis in the upper extremity. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Sawatzky, B., Dahan-Oliel, N., Davison, A. M., Hall, J., Van Bosse, H., & Mortenson, W. B. (2019). Registry team. Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
Wagner, L. V., Cherry, J. S., Sawatzky, B. J., Fąfara, A., Elfassy, C., Eriksson, M., … Donohoe, M. (2019). Rehabilitation across the lifespan for individuals with arthrogryposis. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.

Auteurs

Noémi Dahan-Oliel (N)

Shriners Hospitals for Children, Montreal, Quebec, Canada.
School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.

Judith G Hall (JG)

Pediatrics and Medical Genetics, Children's and Women's Health Centre of BC, UBC, Vancouver, British Columbia, Canada.
Department of Medical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.

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