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排序方式: 共有537条查询结果,搜索用时 15 毫秒
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Davis RE Swiderski RE Rahmouni K Nishimura DY Mullins RF Agassandian K Philp AR Searby CC Andrews MP Thompson S Berry CJ Thedens DR Yang B Weiss RM Cassell MD Stone EM Sheffield VC 《Proceedings of the National Academy of Sciences of the United States of America》2007,104(49):19422-19427
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accounts for ≈80% of BBS1 cases. To gain insight into the function of BBS1, we generated a Bbs1M390R/M390R knockin mouse model. Mice homozygous for the M390R mutation recapitulated aspects of the human phenotype, including retinal degeneration, male infertility, and obesity. The obese mutant mice were hyperphagic and hyperleptinemic and exhibited reduced locomotor activity but no elevation in mean arterial blood pressure. Morphological evaluation of Bbs1 mutant brain neuroanatomy revealed ventriculomegaly of the lateral and third ventricles, thinning of the cerebral cortex, and reduced volume of the corpus striatum and hippocampus. Similar abnormalities were also observed in the brains of Bbs2−/−, Bbs4−/−, and Bbs6−/− mice, establishing these neuroanatomical defects as a previously undescribed BBS mouse model phenotype. Ultrastructural examination of the ependymal cell cilia that line the enlarged third ventricle of the Bbs1 mutant brains showed that, whereas the 9 + 2 arrangement of axonemal microtubules was intact, elongated cilia and cilia with abnormally swollen distal ends were present. Together with data from transmission electron microscopy analysis of photoreceptor cell connecting cilia, the Bbs1 M390R mutation does not affect axonemal structure, but it may play a role in the regulation of cilia assembly and/or function. 相似文献
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Accuracy and feasibility of point-of-care and continuous blood glucose analysis in critically ill ICU patients 总被引:1,自引:0,他引:1
Corstjens AM Ligtenberg JJ van der Horst IC Spanjersberg R Lind JS Tulleken JE Meertens JH Zijlstra JG 《Critical care (London, England)》2006,10(5):R135-7
Introduction
To obtain strict glucose regulation, an accurate and feasible bedside glucometry method is essential. We evaluated three different types of point-of-care glucometry in seriously ill intensive care unit (ICU) patients. The study was performed as a single-centre, prospective, observational study in a 12-bed medical ICU of a university hospital. 相似文献534.
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Adam Searby Russell James Jim Snipe Phil Maude 《International journal of mental health nursing》2023,32(6):1544-1560
The principles of least restrictive care and recovery-focused practice are promoted as contemporary practice in the care of individuals with mental ill health, underpinning legislation concerning mental health and illness in many jurisdictions worldwide. Inpatient mental health units with locked doors are incompatible with this style of care and throwback to a time where care for mental illness was primarily custodial. The aim of this scoping review is to determine whether evidence exists for locking mental health unit doors, whether this practice is compatible with recovery-focused care and to determine whether door locking has changed since a review conducted by Van Der Merwe et al. (Journal of Psychiatric and Mental Health Nursing, 16, 2009, 293) found that door locking was not the preferred practice in the management of acute mental health units. We used Arksey and O'Malley's (International Journal of Social Research Methodology: Theory and Practice, 8, 2005, 19) framework for scoping reviews, with our initial search locating 1377 studies, with screening narrowing final papers for inclusion to 20. Methodologies for papers included 12 using quantitative methodology, 5 qualitative and 3 that used mixed methods designs. Poor evidence was found for door locking to mitigate risks such as absconding, aggression or illicit substance importation. Furthermore, locked doors had a detrimental impact on the therapeutic relationship, nurse job satisfaction and intention to leave the profession. This scoping review indicates that research is urgently needed to address a mental healthcare culture where door locking is an entrenched practice. Studies of alternative approaches to risk management are required to ensure inpatient mental health units are truly least-restrictive, therapeutic environments. 相似文献