TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder

The TNF-receptor-associated periodic sydrome (TRAPS) is an autosomal dominant auto-inflammatory disorder, characterized by recurrent febrile attacks and localized inflammation. TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13. However, the incomplete penetrance and genetic heterogeneity have been reported in this syndrome. Although the ethnic diversity and clinical heterogeneity may propose the role of other genes in the pathogenesis of TRAPS, some low-penetrance TNFRSF1A variants contribute to atypical inflammatory responses in other autoimmune diseases. Furthermore, molecular studies on TRAPS and other auto-inflammatory disorders could be suggested to identify additional genes coding the molecules in the TNF signalling process.     

首发精神分裂症患者出院后家属健康教育计划实施效果

目的:提高患者家属对精神分裂症相关知识的科学认识,改善家属和患者对出院医嘱的依从性。方法:将63例临床治愈的精神分裂症首发患者随机分为观察组32例和对照组31例,两组患者家属均接受出院指导。观察组患者出院时建立家属健康教育登记表并做出院指导,以后分3次结合患者院外康复情况,对家属实施相应教育。结果:观察组患者家属两次复诊时健康知识测查成绩优于对照组,非遵医行为人数低于对照组。结论:帮助出院后的家属科学认识精神分裂症,提高其指导和帮助患者院外康复治疗的能力,有利于精神分裂症患者的康复。     

Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin

Background

Primary biliary cirrhosis (PBC) is an organ specific autoimmune disease of still unidentified genetic etiology. We have shown that endothelins (ETs), produced by the liver endothelial cells are increased in PBC and may play a major pathogenetic role.

Aims

To study gene polymorphisms related to the endothelial cells (eNOS, EDN-1 genes) and, to investigate whether the previously reported association of CTLA4 gene polymorphisms is replicated in a genetically homogeneous Greek population.

Patients and methods

Genomic DNA was extracted from 100 PBC patients (83 females, 93% AMA+, 74/100 Ludwig stage I–II) and 158 healthy controls. eNOS, CTLA4 and ET1 polymorphisms were determined by PCR–RFLPs analysis.

Results

Both eNOS intron4 VNTR and eNOS exon7 G894T SNP were significantly associated with increased risk in PBC. EDN-11 rs2071942 “A” and rs5370 “T” alleles appeared a tendency for association with disease progression. No association was found between PBC and the CTLA4 SNPs analyzed.

Conclusions

We demonstrated that eNOS, a gene related to the liver endothelium function is associated with PBC. Contrarily, the important in adaptive immunity gene CTLA4 was not associated with the disease in the homogeneous population analyzed. These results are compatible partially with our previous hypothesis that defects of the liver endothelial system, leading to endothelin overproduction, may be a fundamental early pathogenetic mechanism in PBC.     

Change-related expectations and commitment to change of nurses: the role of leadership and communication

portoghese i., galletta m., battistelli a., saiani l., penna m.p. & allegrini e. (2012) Journal of Nursing Management  20, 582–591 Change-related expectations and commitment to change of nurses: the role of leadership and communication Aim The purpose of this study was to test a theoretical model linking the impact of expectations on commitment to change and to explore whether change-related communication is a mediating variable between leader–member exchange and expectations. Background Expectations for change outcomes are an important condition to increase nurses’ commitment to change. To understand the role of leadership and communication in expectations development is crucial to promote commitment to change. Method A predictive, non-experimental design was used in a random sample of 395 nurses. Structural equation modelling was used to analyse the hypothesized model. Results Positive expectations had a direct effect on affective commitment to change, whereas negative expectation had a direct effect on continuance commitment to change. Leader–member exchange and communication influenced nurse’s expectations about change. Communication partially mediated the relationship between Leader–member exchange and expectations. Conclusion These findings suggested that nurses’ expectation about change were strongly linked to commitment to change. Furthermore, the enhancement of communication and relationship with leader contributed to the development of positive and negative expectations. Implications for nursing management Strategies to promote commitment to change include developing positive expectations about change outcomes and building high-quality leadership style oriented to the communication.     

基于知识服务理念的护理知识服务模式探析

知识服务是知识社会网络化环境下的产物,以帮助服务对象解决问题为宗旨,提供有针对性、全面、延续性的服务过程。提出构建自助服务、专职顾问服务及个性化服务的护理知识服务模式,并以此为基础从健康教育向知识服务迈进。     

护理干预对肿瘤晚期病人及家属心理的影响

[目的]探讨护理干预对肿瘤晚期病人及其家属心理的影响。[方法]对50例肿瘤晚期病人及50名家属实施护理干预,采用症状自评量表（SCL-90）评定护理干预前后,肿瘤晚期病人及其家属心理。[结果]肿瘤晚期病人及其家属护理干预后,SCL-90总分低于护理干预前,病人主要表现在躯体化、抑郁、敌对、恐怖4个因子（P〈0.05）;病人家属主要表现人际关系、抑郁、焦虑、恐怖等4个因子（P〈0.05）。[结论]护理干预可以改善肿瘤晚期病人及其家属的心理健康状况。     

护理访谈对首发精神分裂症病人家属心理状况的影响

目的:评价护理访谈对首发精神分裂症病人家属心理健康状况的影响。方法:在入院时、住院期间、出院前对80例首发精神分裂症病人家属实施护理访谈,采用SCL-90对家属进行心理健康测评。结果:首发精神分裂症病人家属SCL-90各项因子分与常模比较,访谈前,其人际关系、焦虑、抑郁、偏执、敌对、恐怖和躯体化7项因子分比较有差异(P<0.05);病人的配偶有4项因子分得分高于病人的子女或父母的得分(P<0.05)。干预后,各项因子分与国内常模比较无差异(P>0.05)。结论:护理访谈能改善首发精神分裂症病人家属,尤其是配偶的心理健康状况,缓解家属的心理压力,给病人一个良好的家庭康复环境,有利于促进病人早日康复。