scholarly journals Long-term Negative Psychological Impact of Presymptomatic Testing on Familial Amyloid Polyneuropathy

2019 ◽  
Vol 30 (2) ◽  
pp. 91-97
Author(s):  
Ângela M. Teixeira Leite ◽  
Maria Alzira Pimenta Dinis ◽  
Susana M. Lêdo da Silva Pinto ◽  
Ana I. Pinheiro Gomes ◽  
Ana M. Baldaia Carvalho Pinto
Keyword(s):  
Psychological Impact ◽  
Familial Amyloid Polyneuropathy ◽  
Presymptomatic Testing ◽  
Amyloid Polyneuropathy

Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M)

Amyloid ◽  
2002 ◽  
Vol 9 (2) ◽  
pp. 126-133 ◽  
Author(s):  
Mamede de Carvalho ◽  
Isabel Conceiçato ◽  
Carla Bentes ◽  
M. L. Sales Luis
Keyword(s):  
Liver Transplantation ◽  
Quantitative Evaluation ◽  
Familial Amyloid Polyneuropathy ◽  
Amyloid Polyneuropathy

scholarly journals Cuban Adolescents Requesting Presymptomatic Testing for Spinocerebellar Ataxia Type 2

ISRN Genetics ◽  
2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Tania Cruz-Mariño ◽  
Luis Velázquez-Pérez ◽  
Yanetza González-Zaldivar ◽  
Raúl Aguilera-Rodríguez ◽  
Miguel Velázquez-Santos ◽  
...  
Keyword(s):  
Medical Records ◽  
Psychological Impact ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Settings ◽  
Test Results ◽  
Spinocerebellar Ataxia Type 2 ◽  
Presymptomatic Testing ◽  
The Mean

Since 2001 a program for the presymptomatic testing of families affected with SCA2 has been under development in Cuba. According to the initial protocol, access would be given to nonsymptomatic individuals at 50% risk, over 18 years; nevertheless, eleven minors requested their inclusion in the program. A retrospective and descriptive study based on the analysis of the medical records belonging to these individuals was designed. Being aware of how challenging clinical settings of predictive genetic testing for minors are, this paper reviews their profile, the outcome of the carried out studies, as well as the reproductive option chosen by the gene positive consultands. The mean age at the time of testing was 16.2 years. Nine adolescents completed the protocol (three had positive test results) and two withdrew. They had a distinctive profile; all were females, pregnant, motivated by the risk assessment for their descendants, and interested in PND with termination of the gestation were the fetus a carrier. Nevertheless, once the result of the test is known, the gene positive consultands chose discordant reproductive options. Further research is necessary to assess the long-term psychological impact in both gene positive and gene negative participants, as well as in their parents and at-risk relatives.

Liver Transplantation for Familial Amyloid Polyneuropathy (Val30Met): Long-Term Follow-up Prospective Study in a Nontransplant Center

2019 ◽  
Vol 51 (2) ◽  
pp. 429-432 ◽  
Author(s):  
M. Kavousanaki ◽  
Μ. Tzagournissakis ◽  
I. Zaganas ◽  
K.G. Stylianou ◽  
A.P. Patrianakos ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Prospective Study ◽  
Familial Amyloid Polyneuropathy ◽  
Long Term Follow Up ◽  
Amyloid Polyneuropathy

Long term effect of liver transplantation (LT) on met 30 TTR familial amyloid polyneuropathy (FAP)

2003 ◽  
Vol 38 ◽  
pp. 48
Author(s):  
D. Adams ◽  
D. Samuel ◽  
A. Kreib ◽  
V. Plante ◽  
H. Bismuth ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Familial Amyloid Polyneuropathy ◽  
Term Effect ◽  
Long Term Effect ◽  
Amyloid Polyneuropathy
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