Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I

Machado–Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP-I are late-onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP- I and Huntington disease (HD). The present work is a review of our 10- year experience with psychological counselling of individuals at risk for MJD and FAP-I. Persons at risk for FAP-I may show a better response to pre-symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well-being and specific distress of MJD and FAP-I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non-carriers. A major goal of psychological characterization of at-risk individuals for MJD and FAP-I is to determine the factors that influence the uptake of genetic testing

Cratília: nova opção forrageira para o período seco do ano.

bitstream/item/65399/1/COT-34-Cratilia-nova-opcao.pd

Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal

Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington’s disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of this study was to describe the profile of the population seeking pre-symptomatic testing, while also reflecting on the experience of conducting the protocol of multidisciplinary sessions since 1996. Material and Methods: We conducted a retrospective study and collected data from clinical records of consultands who requested pre-symptomatic testing at our centre in Porto (Portugal) during the first twenty years of practice (1996 - 2015). Results: A total of 1446 records were reviewed. The most common reason for testing was to reduce uncertainty (41.7%). The rate of withdrawals before results disclosure was lower (16%) than reported in other international experiences with pre-symptomatic testing, while 45% of the consultands dropped out the protocol after learning the test results (73.5% of them were non-carriers). As far as the mutation carriers were concerned, 29.6% adhered to the protocol a year after test disclosure. Consultands that had learned about presymptomatic testing through healthcare professionals tended to adhere more to pre-symptomatic testing consultations. Discussion: The profile of Portuguese consultands at risk for late-onset neurological diseases is similar to those reported in other international programs. The largest group in this data set was the one comprising the subjects at risk for familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene, and it is likely that therapeutic options for this condition may have influenced this result. Adherence to pre-symptomatic testing may change in the future since effective therapies are available (or given the fact that people think effective treatments are imminent). Conclusion: This study reflects the first comprehensive description of a Portuguese experience with pre-symptomatic testing for lateonset neurological diseases. The development of innovative approaches to improve the consultands’ experience with pre-symptomatic testing and their engagement in genetic departments is still a challenge in Portuguese genetics healthcare departments. A better coordination among primary care and genetics healthcare services is needed

ESTIMATIVA DA EVAPOTRANSPIRAÇÃO DE REFERÊNCIA PELA EQUAÇÃO DE HARGREAVES-SAMANI NO ESTADO DO CEARÁ, BRASIL / REFERENCE EVAPOTRANSPIRATION ESTIMATED BY HARGREAVES-SAMANI IN THE STATE OF CEARÁ, BRAZIL

Estudos que levam em consideração os aspectos meteorológicos de uma região, sobretudo, na estimativa adequada da evapotranspiração de referência (ETo) podem contribuir para a otimização dos recursos hídricos. Diante do exposto, objetivou-se com o presente trabalho avaliar a estimativa da ETo pelo método de HARGREAVES &amp; SAMANI (1985) (HS) em comparação ao método padrão Penman-Monteith FAO-56 (PM-FAO 56), nas condições climáticas do estado do Ceará. A comparação dos valores de ETo obtidos pelo método padrão PM-FAO 56 e por HS foi realizada usando o erro padrão de estimativa (EPE), a razão entre as médias (ζ) e os índices de concordância “d” e desempenho “c”. Quanto ao índice “c”, os maiores valores foram encontrados nas localidades de Iguatu (“c” = 0,74; “Bom”), Jaguaruana e Crateús (“c” = 0,73; “Bom”) e essa estimativa poderá melhorar com a calibração dos parâmetros da equação de HS.</p

Colonização micorrízica natural de porta-enxertos de citros em campo Natural mycorrhizal colonization of citrus rootstocks under field conditions

O objetivo deste trabalho foi avaliar, em campo, a colonização micorrízica de porta-enxertos tradicionais e híbridos de citros, do Programa de Melhoramento Genético de Citros, da Embrapa Mandioca e Fruticultura Tropical, selecionados como tolerantes à seca. Raízes finas de citros e amostras de solo foram coletadas em duas épocas do ano. A colonização micorrízica foi elevada nos dois pomares amostrados, com variação entre os genótipos e as épocas de avaliação. Todos os porta-enxertos apresentaram porcentagens elevadas de colonização micorrízica, de 42 a 83%, mesmo em condições de alto teor de fósforo no solo.<br>The objective of this work was to evaluate the mycorrhizal colonization of citrus rootstocks (traditional and hybrid), in the field, selected as tolerant to water deficit by the Citrus Breeding Program of Embrapa Mandioca e Fruticultura Tropical. Fine roots and soil samples were collected in two seasons of the year. The mycorrhizal colonization was high in both citrus orchards sampled, and varied among the genotypes and the seasons of the year. All citrus rootstocks presented high percentages of root colonization, varying from 42 to 83%, even in high soil phosphorous conditions