Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.

We analysed the Proprotein Convertase Subtilisin Kexin type 9 (PCSK9) exons and intronic junctions of 71 patients with familial hypercholesterolemia (FH) in whom LDL receptor (LDLR) or apolipoprotein B100 mutations were excluded. The previously reported S127R and R237W mutations were found in South African families, whereas new missense mutations D129G and A168E were found in families from New Zealand. Only, the S127R and D129G mutations modify a highly conserved residue and segregate with the FH phenotype. We overexpressed those mutants in hepatoma cells and found that both S127R and D129G have reduced autocatalytic activity compared with wild-type PCSK9, whereas the A168E mutant is processed normally. The S127R and D129G mutants were not secreted from cells, unlike the A168E mutant and wild-type PCSK9. By immunoblot, we showed that the expression of the LDLR was reduced by 40% in cells overexpressing wild-type or A168E PCSK9 and further reduced by 30% when the S127R or D129G mutants were used. Paralleling the LDLR levels, LDL cellular binding decreased by 25% upon wild-type PCSK9 or A168E overexpression, and by 45% with both S127R and D129G mutants. Our study therefore indicates that PCSK9 mediated inhibition of the LDLR does not require PCSK9 autocatalytic cleavage or secretion, suggesting that PCSK9 may also function intracellularly.

The influence of support groups on the family of risk newborns and on neonatal unit workers.

OBJECTIVE: To investigate the influence of support groups on the family of risk newborn infants and on neonatal unit workers. METHODS: We used a qualitative approach, and as theoretical basis, family-centered care. The study was conducted in the neonatal unit of Hospital Prontolinda, in Pernambuco, Brazil. From January to June 2004, 25 meetings were held by the family support group. Data were collected through the observations of participants and through tape-recorded interviews with 13 mothers, six fathers, two grandmothers and 16 healthcare workers. The interviews were submitted to speech content analysis (thematic modality). RESULTS: The analysis revealed that the support group to the family of risk newborns provided parents and family members with information, emotional support and strengthening so that they could come to terms with the birth of their child and his/her admission to the neonatal unit, in addition to enabling parents to take care of the newborn infant. There was interpersonal growth in the interaction between parents, family members, and healthcare workers. CONCLUSIONS: The support group to the family of risk newborns uses an approach that is based on family-centered care. These principles allow restoring parental competence, helping healthcare workers to respect values and feelings of family members, and establishing a collaborative work between parents and healthcare workers in the neonatal unit.

The influence of support groups on the family of risk newborns and on neonatal unit workers

OBJETIVO: Investigar o significado do grupo de apoio para a família de recém-nascidos de risco e equipe de profissionais na unidade neonatal. METODOLOGIA: Utilizou-se a abordagem qualitativa e, como referencial teórico, o cuidado centrado na família. O estudo foi realizado na unidade neonatal do Hospital Prontolinda, em Pernambuco. No período de janeiro a junho de 2004, foram realizadas 25 reuniões do grupo de apoio para a família. A coleta de dados foi realizada através da observação participante das reuniões do grupo e de entrevistas gravadas com 13 mães, seis pais, duas avós e 16 profissionais de saúde. As falas foram submetidas à análise de conteúdo, modalidade temática. RESULTADOS: A análise evidenciou que o grupo de apoio para a família de neonatos de risco proporcionou informação, apoio emocional e fortalecimento aos pais e familiares para que vivenciassem o nascimento e a hospitalização do filho na unidade neonatal, além de tê-los capacitado para assumir os cuidados com o recém-nascido. Paralelamente, houve crescimento interpessoal mútuo na interação entre pais, familiares e equipe de profissionais da unidade neonatal. CONCLUSÕES: O grupo de apoio para a família de neonatos de risco na unidade neonatal representa uma abordagem fundamentada nos princípios do cuidado centrado na família. A partir de tais princípios, pode-se restabelecer a competência parental, ajudar a equipe de profissionais a respeitar valores e sentimentos dos familiares, bem como contribuir para que pais e profissionais trabalhem em parceria na unidade neonatal.

OBJECTIVE: To investigate the influence of support groups on the family of risk newborn infants and on neonatal unit workers. METHODS: We used a qualitative approach, and as theoretical basis, family-centered care. The study was conducted in the neonatal unit of Hospital Prontolinda, in Pernambuco, Brazil. From January to June 2004, 25 meetings were held by the family support group. Data were collected through the observations of participants and through tape-recorded interviews with 13 mothers, six fathers, two grandmothers and 16 healthcare workers. The interviews were submitted to speech content analysis (thematic modality). RESULTS: The analysis revealed that the support group to the family of risk newborns provided parents and family members with information, emotional support and strengthening so that they could come to terms with the birth of their child and his/her admission to the neonatal unit, in addition to enabling parents to take care of the newborn infant. There was interpersonal growth in the interaction between parents, family members, and healthcare workers. CONCLUSIONS: The support group to the family of risk newborns uses an approach that is based on family-centered care. These principles allow restoring parental competence, helping healthcare workers to respect values and feelings of family members, and establishing a collaborative work between parents and healthcare workers in the neonatal unit.

Envelhecimento e juventude no Japäo e no Brasil: idosos, jovens e a problematizaçäo da saúde reprodutiva / Aging and youth in Japan and in Brazil: ageds, youngs and the questions of approaches of the reproductive medicine

Os japoneses e os brasileiros compartilham uma grande semelhança: vivem em países em processo de envelhecimento populacional que têm grandes preocupações com o que está acontecendo com os seus jovens. É essa relaçäo entre envelhecimento e juventude que abordo aqui. Um dos eixos interpretativos fundamentais desta leitura de fenômeno se localiza no controle da saúde reprodutiva, que se torna alvo de preocupações morais e materiais, como será evidenciado em cada um dos ítens diferentes abordados

Terapia familiar no atendimento psiquiatrico: consideracoes iniciais sobre o tratamento de familias pobres no recife

Empregando-se a terapia familiar no atendimento a populacao pobre do recife, levantam-se alguns questionamentos, como fruto das experiencias no trabalho clinico de pesquisa que esta sendo realizado na clinica psiquiatrica do departamento de neuro-psiquiatria do CCSE da UFPE. Define-se o que se entende por terapia familiar, procurando-se chamar a atencao para os aspectos patologicos do inter-relacionamento grupal, a nivel de familia, e seu comprometimento na etiopatogenia dos disturbios mentais. O sistema familiar e conceituado, emtermos ciberneticos, como um todo indissociavel e intercomunicavel, em que seus membros influenciam e sao influenciados nos eventos ali ocorridos, no intuito de determinarem a natureza de suas relacoes. Ao se utilizar casos clinicos de grupos familiares atendidos, bem como resultados de pesquisas socio-economicas, examina-se a situacao concreta das familias pobres do Recife. Por conseguinte, algumas consideracoes sao feitas sobre as implicacoes dos fatores historicos, sociais e culturais na pratica da terapia familiar.