Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation

Molecular genetic and phenotypic analyses were performed in a highly unusual case of combined protein S and protein C deficiency manifesting in a family in which a child had died perinatally from renal vein thrombosis. Antenatal diagnosis in a second pregnancy was initially performed by indirect restriction fragment length polymorphism (RFLP) tracking using a neutral dimorphism within the PROS gene and served to exclude severe protein S deficiency. Am umbilical vein blood sample at 22 weeks gestation showed isolated protein C deficiency. This pregnancy proceeded to a full-term delivery without thrombotic complications. Molecular genetic analysis of the PROC and PROS gene segregating in the family then yielded one PROC gene lesion in the father and two PROS gene lesions, one in each parent. These lesions were shown to segregate with the respective deficiency states through the family pedigree. Analysis of DNA from paraffin-embedded liver tissue taken from the deceased child showed the presence of both PROS mutations, as well as the PROC mutation. Genotypic analysis of the second child showed a PROC mutation, but neither PROS mutation consistent with its possession of normal protein S levels and a low/borderline protein C level. Antenatal diagnosis was then performed in a third pregnancy by direct mutation detection. However, although the fetus carried only the paternal PROS and PROC gene lesions, the child developed renal thrombosis in utero. It may be that a further genetic lesion at a third locus still remains to be defined. Alternatively, the intrauterine development of thrombosis in this infant could have been caused, at least in part by a transplacental thrombotic stimulus arising in the protein S-deficient maternal circulation. This analysis may, therefore, serve as a warning against extrapolating too readily from genotype to phenotype in families with a complex thrombotic disorder.     

Fibrosing alveolitis: CT-pathologic correlation

Computed tomography (CT) was performed within 10 days of open lung biopsy in nine patients with fibrosing alveolitis. One-centimeter collimation contiguous scans through the chest were obtained in all patients. Additional 1.5-mm collimation scans were obtained in the area in which lung biopsy was later performed in six patients. In seven patients, CT demonstrated patchy involvement of the lung parenchyma, areas with a reticular pattern being intermingled with areas of normal lung. The reticular pattern was associated with cystic spaces 2-4 mm in diameter and was more severe in the lung periphery. Histologically, the reticular pattern corresponded to areas of irregular fibrosis. One patient had diffuse honeycombing (2-20-mm cysts), and one had honeycombing only in the lung periphery. In all patients, CT clearly defined the architectural changes seen on open lung biopsy. These changes were much better seen on the 1.5-mm than on the 10-mm collimation scans. CT may be helpful in determining the pattern and distribution of lung involvement in patients with fibrosing alveolitis and in guiding the surgeon to the most appropriate area(s) for biopsy.     

The changing academic role of the nurse teacher in the United Kingdom

This paper presents findings from a national study conducted over a 3-year period (1991–94) which examined the changing role of the nurse teacher The study used multiple methods to collect data from a wide variety of respondents (nurse teachers, midwife teachers, clinical nurses, health service managers and higher education lecturers) This paper presents the findings relating to the development of the nurse teacher's academic role following the introduction of Project 2000 The issues presented and discussed include specialization within the nurse teacher's role, the nature of this specialization and the development of academic credibility and scholarship The implications of these changes in terms of the development of nursing as an academic subject area and the opportunity to contribute to the establishment of research based practice are explored     

A pilot scheme for an integrated falls prevention service

The National Service Framework for the Older Person (Department of Health 2001) set standards for reducing the number of falls and serious injury. One way this might be achieved is through provision of a Specialist Falls Service. This paper describes a 3 year pilot project to introduce an Integrated Falls Service using money obtained from the local Health Authority Health Improvement fund.The article describes a partnership approach with the local council, therapy services and other agencies. The target group and referral mechanisms are discussed and costings given. A variety of interventions will be employed to include assessment and targeted exercises with education sessions. Hip protectors are available for high risk patients. Several indices will be used to evaluate this pilot scheme including balance measurements, confidence scales, supported interviews and diaries. Final evaluation will be in March 2004.     

Interpersonal mental health nursing: research issues and challenges

Since Peplau outlined her perceptions of psychiatric/mental health nursing in (1952) interpersonal relationships has been considered by many as the core of practice. In the intervening period of almost a half century many researchers and theorists have endeavoured to develop and integrate Peplau's framework into day-to-day nursing activity. However, more recently, as a result of the fusion between the professional nursing agenda and the wider political agenda, the importance of interpersonal relationships and the individuality of psychiatric/mental health nursing is being questioned. This questioning is represented in the debate about the aetiology of mental illness, the choice of research methods to determine treatment outcomes and by association the role and value of the psychiatric/mental health nurse. This paper will focus on the interpersonal nature of psychiatric/mental health nursing and explore possible research approaches aimed at explicating its core. Attention will be given to the necessity of using pluralistic methodology in order to do so.     

Competency-based learning applied to nursing management

The ability to manage change has become an essential skill for all managers, particularly those employed within the Health and Social Services. It is recognized that managers may have received an introduction to management concepts and skills within their professional education but require more specific management development. The government approach to adult education with an increased emphasis on vocational training as opposed to professional education (Hyland 1991) has had an important impact upon the theory and practice of nurse management. Nurses are now required to demonstrate, not only the appropriate knowledge and theory of management, but also the competencies necessary to fulfil their role. This is becoming an important dimension of management development programmes. This paper discusses aspects of competency based learning and considers how these concepts are applied to a higher education nurse management programme on 'Managing Change'. The difficulties experienced in applying vocational standards to professional education within the culture of a higher education will be explored, difficulties identified and some alternatives offered.