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12q24 locus association with type 1 diabetes:SH2B3 or ATXN2? 被引量:2
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作者 Georg Auburger Suzana Gispert +4 位作者 Suna Lahut Ozgür Omür Ewa Damrath Melanie Heck Nazlι Basak 《World Journal of Diabetes》 SCIE 2014年第3期316-327,共12页
Genetic linkage analyses, genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24 locus, with the genes SH2B3 and AT... Genetic linkage analyses, genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24 locus, with the genes SH2B3 and ATXN2 in its core, to be associated with an exceptionally wide spectrum of disease susceptibilities. Hematopoietic traits of red and white blood cells(like erythrocytosis and myeloproliferative disease), autoimmune disorders(like type 1 diabetes, coeliac disease, juvenile idiopathic arthritis, rheumatoid arthritis, thrombotic antiphospholipid syndrome, lupus erythematosus, multiple sclerosis, hypothyroidism and vitiligo), also vascular pathology(like kidney glomerular filtration rate deficits, serum urate levels, plasma beta-2-microglobulin levels, retinal microcirculation problems, diastolic and systolic blood pressure and hypertension, cardiovascular infarction), furthermore obesity, neurodegenerative conditions(like the polyglutamine-expansion disorder spinocerebellar ataxia type 2, Parkinson's disease, the motor-neuron disease amyotrophic lateral sclerosis, and progressive supranuclear palsy), andfinally longevity were reported. Now it is important to clarify, in which ways the loss or gain of function of the locally encoded proteins SH2B3/LNK and ataxin-2, respectively, contribute to these polygenic health problems. SH2B3/LNK is known to repress the JAK2/ABL1 dependent proliferation of white blood cells. Its null mutations in human and mouse are triggers of autoimmune traits and leukemia(acute lymphoblastic leukemia or chronic myeloid leukemia-like), while missense mutations were found in erythrocytosis-1 patients. Ataxin-2 is known to act on RNA-processing and trophic receptor internalization. While its polyglutamine-expansion mediated gain-of-function causes neuronal atrophy in human and mouse, its deletion leads to obesity and insulin resistance in mice. Thus, it is conceivable that the polygenic pathogenesis of type 1 diabetes is enhanced by an SH2B3-dysregulation-mediated predisposition to autoimmune diseases that conspires with an ATXN2-deficiency-mediated predisposition to lipid and glucose metabolism pathology. 展开更多
关键词 Diabetes mellitus type 1 12q24 ATXN2 OBESITY SH2B3 AUTOIMMUNE
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Continuity of Care during Care Transition: Nurses’ Experiences and Challenges 被引量:1
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作者 Else Cathrine Rustad Berit Seiger Cronfalk +1 位作者 Bodil Furnes Elin Dysvik 《Open Journal of Nursing》 2017年第2期277-293,共17页
The aim of this study was to gain increased knowledge about nurses’ experiences of care transition of older patients from hospital to municipal health care, based on two research questions: How is nurses’ experience... The aim of this study was to gain increased knowledge about nurses’ experiences of care transition of older patients from hospital to municipal health care, based on two research questions: How is nurses’ experience continuity during care transition of older patients from hospital to municipal health care? How would nurses describe an optimal care transition? Nurses have a pivotal role during care transitions of older patients. More knowledge about their experiences is necessary to develop favorable improvements for this important period in the older patient’s treatment and care. The study has a qualitative explorative design with follow-up focus group interviews. Nurses (N = 30) working in hospital (n = 16) and municipal (n = 14) health care were organized in five mixed focus groups during the period October-January 2014/2015. The focus groups met twice, answering the research questions following a previously circulated semi-structured interview guide. The interview analysis was inspired by content analysis. The analysis resulted in the themes “Administrative demands challenge terms for collaboration” and “Essentials for nursing determine optimal care transitions for older patients”. Administrative demands may prevent nurses’ professional dialogue and collaboration across health care levels. Older patients’ best interests should be ensured through a collaborative relationship between hospital and municipal nurses, to form continuous care across health care levels. Clinical practice should be aware of essentials for nursing, which could influence and facilitate a more individualized and continuous transition for older patients. 展开更多
关键词 CARE TRANSITION MUNICIPAL Health CARE HOSPITAL CARE CONTINUITY of CARE Focus GROUPS
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重型颅脑创伤后脑室内脑脊液β-淀粉蛋白及其前体显著升高
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作者 Olsson A. Csajbok L. +1 位作者 st M. 李锐 《世界核心医学期刊文摘(神经病学分册)》 2005年第1期14-15,共2页
Severe traumatic brain injury (TBI) may result in widespread damage to axons, termed diffuse axonal injury. Alzheimer’ s disease (AD) is characterised by synaptic and axonal degeneration together with senile plaques ... Severe traumatic brain injury (TBI) may result in widespread damage to axons, termed diffuse axonal injury. Alzheimer’ s disease (AD) is characterised by synaptic and axonal degeneration together with senile plaques (SP). SP are mainly composed of aggregated β amyloid (Aβ ), which are peptides derived from the amyloid precursor protein (APP). Apart from TBI in itself being considered a risk factor for AD, severe head injury seems to initiate a cascade of molecular events that are also associated with AD. We have therefore analysed the 42 amino acid forms of Aβ (Aβ (1- 42)) and two soluble forms of APP (α sAPP and β sAPP) in ventricular cerebrospinal fluid (VCSF) andAβ (1 42) in plasma from 28 patients in a serial samples 0 11 days after TBI. The levels of α sAPP, β sAPP and Aβ (1- 42) were determined using ELISA assays. After TBI, there was a signi ficant stepwise increase in VCSF Aβ (1- 42) up to 1173 % from day 0- 1 to day 5 6and inVCSF α sAPP up to 2033% increase from day 0 1 to day 7- 11. There was also a slight but significant increase of VCSF β sAPP from day 0- 1 to day 5- 6 and day 7- 11. By contrast, the plasma Aβ (1- 42) level is unchanged after injury. The marked increase in VCSF Aβ (1- 42) implies that increased Aβ expression may occur as a secondary phenomenon after TBI with axonal damage. The unchanged level of plasma Aβ (1- 42) in contrast to the marked increase in VCSF Aβ (1- 42) after severe TBI, supports the suggestion that plasma Aβ (1- 42) does not reflect Aβ metabolism in the central nervous system (CNS). 展开更多
关键词 重型颅脑创伤 淀粉蛋白 脑室内 弥漫性轴索损伤 轴突变性 中枢神经系统 级联反应 神经元突触 分子事件 可溶性成分
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Nurses’ movements within and between various paths when improving their communication skills—An evaluation of validation method training
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作者 Mona Soderlund Agneta Cronqvist +2 位作者 Astrid Norberg Britt-Marie Ternestedt Gorel Hansebo 《Open Journal of Nursing》 2013年第2期265-273,共9页
Aims and objectives: To explore any changes in nurses’ skills at communicating with residents with dementia disease when using the validation method, as observed in one-to-one videotaped conversations. Background: Co... Aims and objectives: To explore any changes in nurses’ skills at communicating with residents with dementia disease when using the validation method, as observed in one-to-one videotaped conversations. Background: Communication difficulties due to cognitive impairment among residents with dementia disease may complicate care situations. Training can improve nurses’ communication skills and increase care quality. The validation method aims to facilitate communication with residents with dementia disease through empathic and confirmatory approaches. Evaluations of the validation method have primarily focused on the residents’ perspective, and reports on nurses’ experiences are sparse. Improved communication and relationships with residents after validation method training have been described previously. Videotaped data could provide additional information about these earlier results. Design: A descriptive qualitative design. Methods: Eight nurses participated in a year of validation method training, including videotaped conversations with eleven residents. Videotapes with at least five months between the first and last recording were analysed and compared qualitatively. Results: The analysis revealed an overall pattern: nurses’ movements within and between various paths when improving their communication skills. This was based on three sub-patterns: from controlling communication towards developing attentiveness in communication, from ambiguous communication towards developing coherence in communication, and from being open and attentive towards having a refined attuned communication. Conclusions: All nurses developed their communication skills during the programme, albeit to different degrees. The findings are in congruence with the experiences described by nurses, and so it is reasonable to believe that the programme helped to improve the nurses’ skills in communicating with residents with dementia disease. Relevance to clinical practice: A validation method training programme could give nurses the possibility to develop their skills in communicating with residents with dementia disease. 展开更多
关键词 Training Communication Skills Dementia Care Validation Method Qualitative Analysis of Videotapes
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