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S. S. Hall K. Arron J. Sloneem & C. Oliver 《Journal of intellectual disability research : JIDR》2008,52(5):458-468
Background Self‐injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. Method 54 individuals with CdLS were compared with 46 participants with intellectual disability (ID) of mixed aetiology who were similar in terms of degree of ID, mobility, age and gender using informant‐based measures of health problems, sleep and self‐injury. Results Participants with CdLS experienced significantly more current and lifetime health problems with eye problems and gastrointestinal disorders prominent. Although 55% of those with CdLS experienced sleep problems this prevalence was not different from the comparison group. Sleep disorder was not associated with self‐injury in the CdLS group, skin problems were associated with severity of self‐injury but not presence. Discussion People with CdLS experience a range of significant health problems and have more health concerns than others with the same degree of ID. Although this has been well documented in the past, the current high prevalence of health concerns indicates the need for regular health assessment and appropriate intervention. 相似文献
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The spectrin membrane skeleton of normal and abnormal human erythrocytes: a review 总被引:12,自引:0,他引:12
The erythrocyte membrane skeleton composed of spectrin, actin, and several other proteins is essential for the maintenance of the erythrocyte shape, reversible deformability, and membrane structural integrity in addition to controlling the lateral mobility of integral membrane proteins. In this review, we shall give an historical development of the current model of the erythrocyte membrane skeleton. We will then describe how the experimental technology developed to study the normal membrane skeleton has paved the way for the recent identification of alterations of skeletal protein interactions in hereditary spherocytosis, hereditary elliptocytosis, and hereditary pyropoikilocytosis. We will conclude with a discussion of some of the more exciting and promising directions for future research that are currently being initiated in this vanguard field of cell biology. 相似文献
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Abbas AR Jackman JK Bullens SL Davis SM Choy DF Fedorowicz G Tan M Truong BT Gloria Meng Y Diehl L Miller LA Schelegle ES Hyde DM Clark HF Modrusan Z Arron JR Wu LC 《The American journal of pathology》2011,179(4):1667-1680
Experimental nonhuman primate models of asthma exhibit multiple features that are characteristic of an eosinophilic/T helper 2 (Th2)-high asthma subtype, characterized by the increased expression of Th2 cytokines and responsive genes, in humans. Here, we determine the molecular pathways that are present in a house dust mite-induced rhesus asthma model by analyzing the genomewide lung gene expression profile of the rhesus model and comparing it with that of human Th2-high asthma. We find that a prespecified human Th2 inflammation gene set from human Th2-high asthma is also present in rhesus asthma and that the expression of the genes comprising this gene set is positively correlated in human and rhesus asthma. In addition, as in human Th2-high asthma, the Th2 gene set correlates with physiologic markers of allergic inflammation and disease in rhesus asthma. Comparison of lung gene expression profiles from human Th2-high asthma, the rhesus asthma model, and a common mouse asthma model indicates that genes associated with Th2 inflammation are shared by all three species. However, some pathophysiologic aspects of human asthma (ie, subepithelial fibrosis, angiogenesis, neural biology, and immune host defense biology) are better represented in the gene expression profile of the rhesus model than in the mouse model. Further study of the rhesus asthma model may yield novel insights into the pathogenesis of human Th2-high asthma. 相似文献
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Summary The extent of injury of regenerating liver was compared on adult albino mice following brief (dose rate –20 r/min) and prolonged (dose rate –0.0232 r/min) irradiation with -rays (Co60) in a dose of 1000 r. As demonstrated, hepatic regeneration was depressed after a single irradiation whereas after prolonged irradiation regeneration processes caused by trauma showed no significant depression. Decrease of irradiation efficacy with reduction of the dose rate may be associated either with the presence in the liver of physiological regeneration processes (which as shown on other test-objects decreased irradiation efficacy) or with the fact that radiation sickness was not marked in prolonged irradiation of animals.(Presented by Active Member of the Akad. Med. Nauk SSSR V. V. Parin) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 56, No. 7, pp. 87–91, July, 1963 相似文献
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Alhassane Diallo Heike Jacobi Arron Cook Robyn Labrum Alexandra Durr Alexis Brice Perrine Charles Cecilia Marelli Caterina Mariotti Lorenzo Nanetti Marta Panzeri Maria Rakowicz Anna Sobanska Anna Sulek Tanja Schmitz-Hübsch Ludger Schöls Holger Hengel Bela Melegh Sophie Tezenas du Montcel 《Lancet neurology》2018,17(4):327-334