Zobrazeno 1 - 10
of 54
pro vyhledávání: '"congenital mydriasis"'
Autor:
Aisling B. Mc Glacken-Byrne, David Prentice, Danial Roshandel, Michael R. Brown, Philip Tuch, Kyle S.-Y. Yau, Padma Sivadorai, Mark R. Davis, Nigel G. Laing, Fred K. Chen
Publikováno v:
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Congenital mydriasis and retinal arteriolar tortuosity are associated with the life-threatening multisystemic smooth muscle dysfunction syndrome (MSMDS) due to mutations in the gene, ACTA2, which encodes alpha-smooth muscle actin
Externí odkaz:
https://doaj.org/article/c849b686f6344b31b107545be14e614a
Akademický článek
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Akademický článek
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Akademický článek
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Publikováno v:
World Journal of Clinical Cases
BACKGROUND Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2 (ACTA2) gene p.R179H. In this paper, we report a Chinese MSMDS patient and systematically review the previ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc08ca258805ec80fde4864b15789ea6
https://doi.org/10.12998/wjcc.v7.i24.4355
https://doi.org/10.12998/wjcc.v7.i24.4355
Publikováno v:
Medicine
Rationale: Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that affects multiple organs. The report here concerns a patient with MSMDS, who is known so far as the youngest among all the reported patients. In addition to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54f83f5112d4b1f1e0373889fffb31d9
http://europepmc.org/articles/PMC8183691
http://europepmc.org/articles/PMC8183691
Autor:
Kyle S. Yau, Aisling B. Mc Glacken-Byrne, Philip Tuch, Mark R. Davis, Fred K. Chen, Nigel G. Laing, Padma Sivadorai, Danial Roshandel, David Prentice, Michael R. Brown
Publikováno v:
BMC Ophthalmology
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-8 (2020)
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-8 (2020)
Background Congenital mydriasis and retinal arteriolar tortuosity are associated with the life-threatening multisystemic smooth muscle dysfunction syndrome (MSMDS) due to mutations in the gene, ACTA2, which encodes alpha-smooth muscle actin (α-SMA).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ad3b48066334137cd8a02f09c48459
http://europepmc.org/articles/PMC7038593
http://europepmc.org/articles/PMC7038593
Autor:
M. Elizabeth Brickner, Reed E. Pyeritz, Kathryn C. Chatfield, Dianna M. Milewicz, Anthony L. Estrera, Ellen S. Regalado, Hiroko Morisaki, Patricia L. Musolino, Lauren Mellor-Crummey, Susan L. Benedict, Mustafa Tekin, Denver Sallee, Kathryn W. Holmes, Timothy J. Bradley, Cori Feist, Glen J. Iannucci, Julie Richer, Sherene Shalhub, John R. Østergaard, Lesley C. Adès, Anne H. Child, Paul R. Mark, Shaine A. Morris, Anna L. Mitchell, Birgit Lorenz, Julie De Backer, Takayuki Morisaki, Anji T. Yetman, Alan C. Braverman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245
Purpose: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8781f25dd24c3cd5595fe15cb4a2f568
http://europepmc.org/articles/PMC6034999
http://europepmc.org/articles/PMC6034999
Autor:
Elida Vazquez, Susana Boronat, Angel Sanchez-Montanez, Jose de Grazia, Miguel del Campo, Ignacio Delgado
Publikováno v:
Brain and Development. 39:62-66
Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e17dcf9cab6796eabcf81e35dcb5ad
https://doi.org/10.1016/j.braindev.2016.08.003
https://doi.org/10.1016/j.braindev.2016.08.003
Autor:
Gölge Acaroğlu, Bayazıt Ilhan, Pınar Çoban, Ayse Gul Kocak Altintas, Çiğdem Ülkü Can, Sibel Polat
Publikováno v:
Turkiye Klinikleri Journal of Medical Sciences. 32:1388-1391
A 14-year-old patient presented to our hospital with dilated pupils and decreased near vision. Complete ocular examination was done and pupil responses to pharmacological agents were evaluated. The patient had bilateral congenital mydriasis. The pupi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19aded77308a4e92e6f2f879869c76f9
https://doi.org/10.5336/medsci.2010-19812
https://doi.org/10.5336/medsci.2010-19812