Getting To Outcomes: a community-based participatory approach to preventive interventions

Bouget, D. (1998). The Juppé Plan and the future of the French social welfare system. Journal of European Social Policy, 8(2) 154-172.     

PRKDC mutations in a SCID patient with profound neurological abnormalities

The DNA-dependent protein kinase catalytic subunit (DNA-PKcs; encoded by PRKDC) functions in DNA non-homologous end-joining (NHEJ), the major DNA double strand break (DSB) rejoining pathway. NHEJ also functions during lymphocyte development, joining V(D)J recombination intermediates during antigen receptor gene assembly. Here, we describe a patient with compound heterozygous mutations in PRKDC, low DNA-PKcs expression, barely detectable DNA-PK kinase activity, and impaired DSB repair. In a heterologous expression system, we found that one of the PRKDC mutations inactivated DNA-PKcs, while the other resulted in dramatically diminished but detectable residual function. The patient suffered SCID with reduced or absent T and B cells, as predicted from PRKDC-deficient animal models. Unexpectedly, the patient was also dysmorphic; showed severe growth failure, microcephaly, and seizures; and had profound, globally impaired neurological function. MRI scans revealed microcephaly-associated cortical and hippocampal dysplasia and progressive atrophy over 2 years of life. These neurological features were markedly more severe than those observed in patients with deficiencies in other NHEJ proteins. Although loss of DNA-PKcs in mice, dogs, and horses was previously shown not to impair neuronal development, our findings demonstrate a stringent requirement for DNA-PKcs during human neuronal development and suggest that high DNA-PK protein expression is required to sustain efficient pre- and postnatal neurogenesis.     

The use of cardiopulmonary resuscitation: how nephrologists and internists differ

We performed a national survey to explore the circumstances under which general internists and nephrologists discuss cardiopulmonary resuscitation (CPR) with patients and the factors influencing physician decisions to open such discussions. We wondered whether nephrology fellowship training and/or formal exposure to an ethics course during training altered physicians' use of CPR. Significantly more nephrologists than internists responded to the study (nephrologists, 174/467; internists, 92/380; P less than 0.01). Few of the respondents participated in an ethics course during training (9% of nephrologists, 15% of internists; P = NS), and fewer than half (26% of nephrologists, 37% of internists; P = NS) had engaged in formal discussions about initiating and withdrawing life-sustaining treatment during their training. Nephrologists spent significantly more time caring for patients in intensive care units (ICUs) (29% v 21% of time, P less than 0.05), and more often discussed CPR during their first meeting with a patient (7% of nephrologists v 1% of internists; P less than 0.05). Twenty-eight percent of nephrologists and 19% of internists thought CPR should be offered to all patients. Both nephrologists and internists rated neurologic dysfunction as the most important and age the least important factor influencing decisions to terminate CPR. Nephrologists were less comfortable than internists with healthy dialysis patients' decisions to refuse CPR. We conclude that nephrologists are more inclined than internists to use CPR in dialysis patients, in patients with impaired functional status, and in all patients. Training in medical ethics did not account for the differences among nephrologists and internists.     

Implementing family-centred care: an exploration of the beliefs and practices of paediatric nurses.

OBJECTIVE: This study explored paediatric nurses' perceptions of how they include and involve parents in the care of hospitalised children. DESIGN: This qualitative study used individual unstructured interviews to gather data, the data was analysed using thematic coding. SETTING: Paediatric wards within two regional area health services of New South Wales, Australia. SUBJECTS: Fourteen paediatric nurses were asked to describe their beliefs and practices regarding the clinical application of family-centred care. MAIN OUTCOME MEASURE: Paediatric nurses' beliefs and practices about family-centred care were explored in an effort to explain how the concept was implemented. RESULTS: The findings are presented as four interconnected themes. The first describes how participants either allocated tasks to parents or retained them, the second relates to the nurses' professional identity, the third theme identifies barriers and constraints to the implementation of family-centred care, while the fourth describes the nurses' beliefs about their responsibilities when delivering family-centred care. CONCLUSIONS: Together these findings suggest that while nurses endorse the concept of family-centred care, the implementation into practice is more problematic. While it is not possible to generalise these findings to other paediatric nurses, the authors believe the insight gained will resonate with paediatric nurses internationally. The findings from this study are being used as the basis for the development of clinical practice guidelines to assist paediatric nurses to more consistently apply the concepts of family-centred care to their practice.