Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

In an analysis of 30 families affected by spinal muscular atrophy (SMA) we have used the solid-phase minisequencing method to determine the ratio between the number of telomeric and centromeric copies of the survival motor neuron gene (SMN and cBCD541 respectively) on normal and SMA chromosomes. This has enabled us to establish haplotypes with regard to SMN and cBCD541, and estimate their frequencies, on both types of chromosomes. Six predominant haplotypes were identified, three for normal chromosomes and three for SMA chromosomes, characterized by having 0, 1, or 2 copies, respectively, of cBCD541. We found evidence for the presence of patients homozygous for a deletion of SMN and with only one copy of cBCD541, but found none deleted for all copies of this gene. Several asymptomatic carriers of SMA with only a single copy of SMN and no copy of cBCD541 were identified. We could not confirm the hypothesis that the presence of more copies of cBCD541 is correlated to a less severe course of the disease. The frequencies of haplotypes characterized by having 0, 1, or 2 copies, respectively, of cBCD541 were found to differ significantly between normal and SMA chromosomes. This distribution can be explained by an underrepresentation of the haplotype completely lacking SMN genes, which is expected to cause early embryonic death in homozygotes. This first report of a direct haplotype analysis of SMN and cBCD541 should help clarify the role of cBCD541 in the pathogenesis of SMA.      

The use of the waiting list in a fair selection of patients for nursing home care

In the last few years, the activity of research laboratories has led to the emergence of new DNA diagnostic tests in France. They permit the origin of genetic diseases to be identified and provide an answer concerning the detection of carriers and prevention. Nevertheless, given this, new actors have emerged on the health care scene: the research workers who developed the tests and who work in public research laboratories. The economic question of the transfer of the test practice from research to hospital laboratories is the main topic of this paper, taking Duchenne Muscular Dystrophy (DMD) DNA diagnostic tests as the example. After a presentation of the complexity of DNA tests for DMD, the fact that financial and human constraints do not allow the actors to continue to produce the DNA tests is discussed. The financial role of the non-profit-making associations is then explained and leads to the conclusion that a more global policy on DNA tests, such as carried out in the UK and the Netherlands, should be adopted in France by the Social Security if it wants DNA testing activity to be pursued.     

The meaning of urgency in the allocation of scarce health care resources; a comparison between renal transplantation and psychogeriatric nursing home care

In the juridical and ethical literature on patient selection criteria it is an unargued premise that those who are most urgently in need of treatment or care will be given priority. The aim of this study is to gain insight into the medical practice of waiting list problems and patient selection at the microlevel, especially with respect to urgency. Thus, the study intends to contribute to the medical ethical discussion on patient selection for scarce resources. The results of qualitative research into the meaning and occurrence of urgency in two health care services, renal transplantation and psychogeriatric nursing home care, are discussed. In the first sector, patients are seldom considered urgent. Criteria for urgency are technical dialysis problems or severe psychological burden due to protracted dialysis treatment. In contrast, psychogeriatric patients are often considered urgent, with the principal criterion being too heavy a care load for informal carers. Both health care services show variation in assigning urgency codes. It appears that the exact meaning of urgency is not self-evident and that admission of urgent patients to nursing homes can be negotiated by professionals or informal carers. This points to the necessity of a discussion within these services as to the actual content matter of urgency. Further, professionals involved in renal transplantation raise several moral and practical arguments against giving patients priority, even if they need treatment urgently. It shows that distributive justice cannot always be applied. Occasionally non-urgent patients are rated urgent as they have been waiting very long due to specific allocation procedures. In these cases urgency is granted in an unexpected way that is ultimately in accordance with the notion of procedural justice.     

Venous muscle pump function during pregnancy. Assessment by ambulatory strain-gauge plethysmography

The venous muscle pump function was quantitatively assessed through pregnancy weeks 16, 30, 38 and 3 months (week 53) following delivery, in 24 pregnant women who completed a normal pregnancy. A statistically significant increase was found in the mean venous reflux (P less than 0.01), which was restored to initial values postpartum. Expelled calf volume remained stable throughout pregnancy but increased following delivery. Venous outflow from the legs was significantly reduced in the third trimester. Subjective symptoms of venous insufficiency increased through pregnancy, but, these symptoms had virtually disappeared post partum, corresponding to the muscle pump normalization. No statistical correlation was found between venous muscle pump values and changes in hormone concentrations of estradiol, estriol and progesterone. It is suggested that venous insufficiency development in pregnancy is caused primarily by mechanical obstruction, or hormonal influence other than that of estradiol, estriol or progesterone. 17% (4.7-37%) of the women with a normal pregnancy developed a pathological venous muscle pump function.     

CD40 ligand deficiency presenting as unresponsive neutropenia

A male child presented with recurrent respiratory infections, otitis media, and oral ulceration and was found to be neutropenic. Investigations showed hypogammaglobulinaemia with normal serum IgM and a novel deletion in the gene for CD40 ligand on his X chromosome. Intravenous gammaglobulin did not lead to resolution of his neutropenia; G-CSF was also necessary.     

Effectiveness of a nurse-led case management home care model in Primary Health Care. A quasi-experimental,controlled, multi-centre study

Background  

Demand for home care services has increased considerably, along with the growing complexity of cases and variability among resources and providers. Designing services that guarantee co-ordination and integration for providers and levels of care is of paramount importance. The aim of this study is to determine the effectiveness of a new case-management based, home care delivery model which has been implemented in Andalusia (Spain).     

Bifocal nummular headache: the first three cases

Nummular headache (NH) has been defined as a focal head pain that is exclusively felt in a small area of the head surface. Here we describe three patients who presented with focal head pain in two separate areas. This finding seems to be consistent with bifocal NH and further enlarges the clinical diversity of this headache disorder. The pathogenic mechanisms of NH may be active in multiple cranial areas in some particular patients.     

残疾老人社区危机干预的个案特征

目的:通过对1例残疾老年人进行社区危机干预,从而为社会工作者提供了新的方法和建议。方法:在半年的干预中,采用了认知疗法、情感支持以及家庭疗法对老人进行了危机处理。结果:老人经过社区干预之后,在情绪上、生活上、家庭问题等方面有了很明显的变化。结论:残疾人社区危机干预中,可以采用多种方法进行能够有效提高干预效果。