RESUMO
Lamellar ichthyosis, one form of congenital autosomal recessive ichthyosis, is caused by mutations in the gene (TGM1) encoding the transglutaminase 1 enzyme. Mutations, deletions, or insertion of TGM1 have been reported so far. Here we report that three novel mutations of TGM1, D101V, N288T, and R306W, cause lamellar ichthyosis in two different families. The patient in family LI-KD has N288T and R306W mutations, and the patient in family LI-LK has D101V and R306W mutations. The activity of the transglutaminase 1 enzyme of the patient in family LI-LK was only about 15% of normal. Also, three-dimensional structural prediction analyses revealed that the N288T and R306W mutations, and possibly the D101V mutation, cause misfolding in the central catalytic core domain of the transglutaminase 1 enzyme that would probably result in reduced enzyme activity. Our data suggest that the greatly reduced transglutaminase 1 activities are due to disruptions of the native folding of transglutaminase 1, and that these mutations may play a critical role in the pathology of lamellar ichthyosis.
Assuntos
Ictiose Lamelar/genética , Mutação de Sentido Incorreto , Transglutaminases/química , Transglutaminases/genética , Substituição de Aminoácidos , Células Cultivadas , Éxons , Feminino , Humanos , Ligação de Hidrogênio , Recém-Nascido , Queratinócitos/citologia , Queratinócitos/enzimologia , Estrutura Terciária de Proteína , RNA Mensageiro/análise , Pele/citologia , Relação Estrutura-Atividade , Transglutaminases/metabolismoRESUMO
PURPOSE: This study was conducted to develop gerontological curriculum model which reflects the need of Korean society. METHOD: Three round Delphi survey method was applied to find consensus of gerontological nursing competencies (knowledge, attitudes and skills) for graduates of nursing schools from the panel of gerontological nursing practice experts. Important concepts in gerontological nursing were delineated from literature review and discussions of gerontological nursing educators. Based on these results the gerontological nursing curriculum model was developed and course structure outlined by the researchers as a group. RESULT: As the result of delphi survey, 32 items of knowledge, 29 items of attitude, and 21 items of skill were identified. The curriculum model constructed around a cube with three plane- functional capacity levels, settings, and nursing practice. Specific knowledge, attitudes and skills for gerontological theory and practicum course were suggested. Competency items were assigned to theory and/or practice. CONCLUSION: A curriculum model for gerontological nursing has been developed by a group of gerontological nursing educators. The curriculum model should be further tested and developed with detailed theory and practicum course outline and textbooks.
RESUMO
Care is a central concept of nursing. Nursing would not exist without caring. Care and quality of life are closely related. Human behavior is a manifestation of culture. We can say that caring and nursing care are expression of culture. The nurse must understand the relationship of culture with care for ensure quality nursing care. But knowledge of cultural factors in nursing is not well developed. Time and in-depth study are needed to find meaningful relationships between culture and care. Nurses recognized the importance of culturally appropriate nursing. There are two care systems in culturally based nursing. The folk care system and the professional nursing care system. The folk care system existed long before the professional nursing care system was introduced into this culture. If the discrepancy between these two care systems is great, the client may receive inappropriate nursing care. Culture and subcultures are diverse and dynamic in nature. Nurses need to know the caring behaviors, patterns, and their meaning in their own culture. In Korea we have taken some first step to study cultural nursing phenomena. It is not our intent necessarily to return to the past and develop a nationalistic of nursing, but to identify the core of traditional caring and relate that to professional nursing care. Our Assumptions are as follows: 1) Care is essential for human growth, well being and survival. 2) There are diverse and universal forma, expressions, patterns, and processes of human care that exist transculturally. 3) The behaviors and functions of caring differ according to the social structure of each culture. 4) Cultures have folk and professional care values, beliefs, and practices. To promote the quality of nursing care we must understand the folk care value, beliefs, and practices. We undertook this study to understand caring in our traditional culture. The Goals of this study were as follows: 1) To identify patterns in caring behavior, 2) To identify the structural components of caring, and 3) To understand the meaning and some principles of caring. We faced several questions in this study. Who is the care-giver? Who is the care-recipient? Was the woman the major care-giver at any time? What are the patterns in caring behavior? What art the principles underlying the caring process? We used an interdisciplinary team approach, composed of representatives from nursing and anthropology, to contribute in-depth understanding of caring through a sociocultural perspective. A Field study was conducted in Ro-Bong, a small agricultural kinship village.(ABSTRACT TRUNCATED AT 400 WORDS)