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101.
The purpose of this study is to understand the reality of living with a seriously ill patient, from the point of view of the carer family member. We have contacted families who cared for seriously ill family members at home. Our intent was to understand the essence of the meaning of this situation for the carer family member. This was a qualitative study that relied on the theoretical and methodological framework of phenomenology. Thematic categories emerged from the careful analysis of testimonies of the carer family member, pointing to the essence of the day-to-day experience of providing this care. 相似文献
102.
Labarère J Fourny M Jean-Phillippe V Marin-Pache S Patrice F 《International journal of health care quality assurance incorporating Leadership in health services》2004,17(1):17-25
The objective of this study was to check psychometric properties of a French-language in-patient experience questionnaire in a test sample different from the development sample. The questionnaire was sent out to 5,736 in-patients, within two to four weeks of discharge from a teaching hospital of 2,200 beds. Overall 4,095 questionnaires (71.4 per cent) were returned. Of these, 3,879 questionnaires were analyzed. In principal component analysis, seven principal components accounted for 62.4 per cent of the total variance. Cronbach's alpha coefficient ranged from 0.62 to 0.90, with the exception of the seventh scale (convenience scale, two items, Cronbach = 0.39). The overall patient experience score increased with increasing patient age (except for patients older than 65), male sex, low education level, use of a single room, and prior stay in the department. It also differed with respect to patients' behavioral intentions, answers to an overall satisfaction item, and open-ended comments. 相似文献
103.
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis
Silva E Dharmaraj S Li YY Pina AL Carter RC Loyer M Traboulsi E Theodossiadis G Koenekoop R Sundin O Maumenee I 《Ophthalmic genetics》2004,25(3):205-217
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous severe retinal dystrophy presenting in infancy. To explain the phenotypical variability observed in two affected siblings of a consanguineous pedigree diagnosed with LCA and establish a genotype-phenotype correlation, we screened GUCY2D, RPE65, CRX, AIPL1, and RPGRIP1 for mutations. The more severely affected sibling carried a heterozygous missense mutation in the GUCY2D gene (Ile539Val), which did not segregate with the disease phenotype. Subsequently, a homozygous nonsense mutation (Glu102STOP) in the RPE65 gene was identified in both affected siblings, thus identifying the causative gene. This data provides evidence for the presence of genetic modulation in LCA. It appears that the heterozygous GUCY2D mutation further disrupts the already compromised photoreceptor function resulting in more severe retinal dysfunction in the older sibling. We suggest that the unusual phenotypic variability in these two siblings with LCA is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation. 相似文献
104.
Cleavage of Mcl-1 by caspases impaired its ability to counteract Bim-induced apoptosis 总被引:5,自引:0,他引:5
Herrant M Jacquel A Marchetti S Belhacène N Colosetti P Luciano F Auberger P 《Oncogene》2004,23(47):7863-7873
Mcl-1 is an antiapoptotic member of the Bcl-2 family that can promote cell viability. We report here that Mcl-1 is a new substrate for caspases during induction of apoptosis. Mcl-1 cleavage occurs after Asp127 and Asp157 and generates four fragments of 24, 19, 17 and 12 kDa in both intact cells and in vitro, an effect prevented by selective caspase inhibitors. As a consequence, the resulting protein that lacks the first 127 or 157 amino acids contains only the BH1-BH3 domains of Bcl-2 family members. Mutation of Asp127 and Asp157 abolishes the generation of the 24 and 12 kDa fragments and that of the 19 and 17 kDa fragments, respectively. Interestingly, when expressed in HeLa cells Mcl-1 wt and Mcl-1 Delta127 showed a markedly different intracellular distribution. Mcl-1 wt colocalized with alpha-Tubulin near the internal face of the plasma membrane, while Mcl-1 Delta127 coassociated with Bim-EL at the mitochondrial level. Coimmunoprecipitation experiments also demonstrated that Mcl1 Delta127 exhibited increased binding to Bim when compared to Mcl-1 wt. Finally, Mcl-1 wt unlike Mcl-1 Delta127 inhibited Bim-EL-induced caspase activation. Altogether, our findings demonstrate that cleavage of Mcl-1 by caspases modifies its subcellular localization, increases its association with Bim and inhibits its antiapoptotic function. 相似文献
105.
Peeters M Romieu P Maurice T Su TP Maloteaux JM Hermans E 《The European journal of neuroscience》2004,19(8):2212-2220
Pharmacological effects of amantadine on dopaminergic transmission are proposed to result from an uncompetitive antagonism at glutamate N-methyl-D-aspartate (NMDA) receptors. However, our previous studies examining amantadine-mediated dopamine receptor regulation in the rat striatum revealed a discrepancy from a direct interference with glutamate transmission. Preliminary in vitro binding data from the literature suggested the interaction of amantadine with the sigma1 receptor. Therefore, we have now further characterized the pharmacological properties of amantadine and memantine at this receptor and investigated its involvement in the modulation of striatal dopaminergic transmission. Our binding studies using [3H]-(+)SKF-10,047 indicated that amantadine and memantine behave as ligands of the sigma(1) receptor in rat forebrain homogenates (Ki values of 7.44 +/- 0.82 and 2.60 +/- 0.62 microm, respectively). In NG108-15 neuroblastoma cells, both drugs (amantadine (100 microm) and memantine (10 microm)) potentiated the bradykinin-induced mobilization of intracellular Ca2+, mimicking the effect of the sigma1 receptor agonist PRE-084 (1 microm). Finally, we previously showed that in striatal membranes from amantadine-treated rats, the functional coupling of dopamine receptors with G-proteins was enhanced. Similarly, PRE-084 dose-dependently increased the [35S]GTPgammaS binding induced by dopamine (Emax 28 and 26% of basal, 0.3 and 1 mg/kg PRE-084, respectively). By contrast, BD1047, which is without effect on its own, antagonized the effects of amantadine and PRE-084. Together, these data demonstrate that aminoadamantanes behave as sigma1 receptor agonists, and confirm an involvement of this receptor in modulating dopamine receptors exerted by therapeutically relevant concentrations of amantadine. 相似文献
106.
107.
Congenital hepatic fibrosis: CT findings in 18 adults 总被引:11,自引:0,他引:11
Zeitoun D Brancatelli G Colombat M Federle MP Valla D Wu T Degott C Vilgrain V 《Radiology》2004,231(1):109-116
PURPOSE: To evaluate the computed tomographic (CT) findings in adult patients with pathologically proved congenital hepatic fibrosis. MATERIALS AND METHODS: This was a retrospective review of congenital hepatic fibrosis cases identified at two institutions over the course of 8 years. Eight men and 10 women with an age range of 22-72 years (mean age, 39 years) were included. Contrast material-enhanced and unenhanced CT scans were obtained through the liver in all patients. Two radiologists evaluated size of and morphologic findings (atrophy or hypertrophy localized according to hepatic segments) in the liver; increased diameter or number of hepatic arteries at the hilum; presence of hepatic nodules, varices, spontaneous splenorenal shunts, and splenomegaly; and association with other hepatic ductal plate malformations and renal abnormalities. RESULTS: Sixteen patients had morphologic abnormalities in the liver, 15 had splenomegaly (three underwent splenectomy for portal hypertension), and 14 had varices or spontaneous splenorenal shunts. An enlarged hepatic artery and a tangle of abnormally enlarged arterial vessels were identified in five and four patients, respectively, and four of these nine patients had large benign regenerative nodules. Ten patients had renal abnormalities and nine had an associated ductal plate malformation. CONCLUSION: This retrospective study shows that certain findings (ie, liver morphologic and associated ductal plate abnormalities, varices, splenomegaly, and renal abnormalities) are frequently observed in combination in patients with congenital hepatic fibrosis. 相似文献
108.
109.
110.
In the routine of a hospital, during my nursing practice of providing care to patients with pain, it was shown to me as reaching beyond a biological sphere included in an existential dimension. Something in this experience disturbed me and I felt the need to understand these people suffering from pain, asking how they understand their pain and what is the meaning of experiencing painful chronic situations. In the attempt to find a way to obtain such understanding, I searched for some ideas stemming from phenomenology. Then, I interviewed the subjects individually based on the central question: "How is your experience with pain? Tell me about this". After the analysis, I was able to understand that pain is a way to narrow the horizon of possibilities and transformations in existence. It is not only the physical body that is ill, but also life is affected in its various dimensions, fundamentally with regard to the family, work and self-relation world. 相似文献