A transparência metodológica na pesquisa qualitativa é fator que contribui para sua confiabilidade, devendo ser garantida pelos pesquisadores. A utilização do critério de fechamento amostral por saturação é freqüente, entretanto a maneira como este processo ocorreu é raramente explicitado nos relatórios de pesquisa. Dificuldades técnicas para uma constatação objetiva da saturação também são comuns entre os pesquisadores qualitativos. Neste texto, propõe-se um modo prático de organizar o trabalho de fechamento amostral por saturação, expondo uma seqüência de oito passos procedimentais de tratamento e análise de dados coletados em entrevistas não-dirigidas com questões abertas ou em grupos focais. Almeja-se contribuir para que os pesquisadores explicitem objetivamente o modo como a saturação ocorreu e, aos seus leitores, conhecer como se deu este processo.

PALAVRAS-CHAVE-Educação médica.-Aprendizagem baseada em problemas.-Simulação de pacientes.-Competência clínica. RESUMO Este trabalho relata a experiência, construída ao longo de dois anos ABSTRACT This article reports on a two-year experience with Professional Practice Simulations (PPS) as a tea-

Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281-283, 2000.

Background This study investigated the psychocultural perspectives concerning family quality of life among Brazilian families with children who have severe or profound intellectual disability. Methods Individual in‐depth semi‐structured interviews conducted with 15 mothers, selected by convenience, were analysed using a categorical thematic analysis technique. The themes were examined to allow for an interpretative approach of the results. Results Mothers revealed that their children with disabilities had insufficient access to services and support related to health care, transportation and recreation. Family quality of life was negatively affected by financial restrictions and social interaction difficulties. Caring for a child with disabilities seemed to be centred on the mother and religious coping appeared as a common psychological adjustment strategy. Conclusions Improving emotional and psychological cares, as well as social and practical measures comprising income support and access to appropriate health care, were inferred to be the mothers’ priorities to improve their families’ quality of life.

SUS. To carry out this analysis, we introduce the Policy and its guidelines, with a focus on discussion of two integrated strategies: the provision and settlement of geneticist physicians; and training of primary care professionals with regard to genetic diseases and congenital defects. Finally, in view of the Brazilian National Curriculum Guidelines for undergraduate medical courses, we suggest a profile of minimum competencies required in Genetics, developed in order to provide resources to undergraduate courses in Health, in particular, medical courses. We provide a theoretical reference to support the outline of programs of education and training in Health, contributing to including Genetics in the SUS.