Ser cuidador em serviço residencial terapêutico: fragilidades e potencialidades na prática assistencial / Being a caregiver in a therapeutic residency service: fragilities and potentialities in assistance practice

Objetivo: identificar as fragilidades e potencialidades vivenciadas pelos cuidadores na prática assistencial dos serviços de residência terapêutica. Método: pesquisa qualitativa realizada por meio de entrevista semiestruturada, com 12 cuidadores dos de seis Serviços de Residências Terapêuticas do Oeste Paulista, cujos dados foram tratados por análise de conteúdo de Bardin. Resultados: emergiram duas categorias, fragilidades na prática de ser cuidador em serviço de residência terapêutica: superando limites e as potencialidades na prática de ser cuidador em serviço de residência terapêutica: uma conquista nas relações interpessoais. Considerações finais: os cuidadores têm dificuldades em promover atividades a fim de ressocializar às pessoas com transtorno mental, decorrente da sobrecarga de trabalho com as atividades domésticas da residência e o vínculo com o morador é um facilitador na assistência aos mesmos.

Objective: to identify the weaknesses and potentialities experienced by caregivers in the care practice of therapeutic residency services. Method: qualitative research carried out through a semi-structured interview with 12 caregivers of the six Residual Therapy Services from the west of São Paulo, whose data were treated by Bardin 's content analysis. Results: two categories emerged, weaknesses in the practice of being a caregiver in a therapeutic residency service: surpassing limits and the potentialities in the practice of being a caregiver in a therapeutic residency service: an achievement in interpersonal relationships. Final considerations: caregivers have difficulties in promoting activities in order to re-socialize people with mental disorders, due to the overload of work with the domestic activities of the residence and the bond with the resident is a facilitator in the care of them.

The time has come: a new scene for PKU treatment

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, genetics and molecular basis of the disease, as well as the need for easier treatment, led to the development of several new therapeutic strategies for PKU. In the present study, we evaluated these new therapeutic options in terms of theoretical basis, methodologies, efficacy, and costs.

Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil

In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian component of the Brazilian population originated from. The most frequent mutations were V388M (21%), R261Q (16%), IVS10nt11 (13.4%), I65T (5.7%), and R252W (5%). The frequencies of the other four mutations (R261X, R408W, Y414C, and IVS12nt1) did not reach 2%. By testing these nine mutations, we were able to identify 64% of the PKU alleles in our sample. V388M frequency was higher than in any other known population and almost three times larger than that observed in Portugal, probably reflecting genetic drift. The mutation profile, as well as the relative frequency of the different mutations, suggest that the Minas Gerais population more closely resembles that of Portugal than do the other Brazilian populations that have already been tested.