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31.
EV De Marco G Annesi P Tarantino G Nicoletti D Civitelli D Messina F Annesi G Arabia M Salsone F Condino F Novellino G Provenzano FE Rocca C Colica M Morelli V Scornaienchi V Greco L Giofrè A Quattrone 《Clinical genetics》2010,77(2):183-188
De Marco EV, Annesi G, Tarantino P, Nicoletti G, Civitelli D, Messina D, Annesi F, Arabia G, Salsone M, Condino F, Novellino F, Provenzano G, Rocca FE, Colica C, Morelli M, Scornaienchi V, Greco V, Giofrè L, Quattrone A. DJ‐1 is a Parkinson's disease susceptibility gene in southern Italy. Mutations in the gene DJ‐1 have been shown to be a rare cause of early‐onset Parkinson's disease (EOPD). Since DJ‐1 mutations have been found in patients with Parkinson's disease (PD) from southern Italy, we aimed to investigate whether polymorphisms within the DJ‐1 gene could represent a risk factor for sporadic PD. First, we genotyped 294 patients with PD and 298 controls coming from southern Italy to assess the distribution of the insertion/deletion (Ins/Del) polymorphism. In a second phase, we identified five single‐nucleotide polymorphisms (SNPs) useful to delimit a region potentially involved and genotyped all patients and controls for these markers. All the markers analyzed were significantly associated with PD at both allelic and genotypic level. The most significant association with the disease was found at the Ins/Del polymorphism (p = 0.0001; adjusted odds ratio (OR ) = 2.05; confidence interval (CI ) = 1.36–3.08). When we considered a three‐marker sliding window, we found a highly significant association between the disease and the haplotypes including markers rs17523802, Ins/Del, and rs3766606 (p = 0.0007) and markers Ins/Del, rs3766606 and rs7517357 (p = 0.0054). Our results indicate that polymorphisms located in a region spanning 3535 bp from the promoter to the intron 2 of the DJ‐1 gene confer risk to sporadic PD in southern Italy. 相似文献
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F Madore MJ Stampfer WC Willett FE Speizer GC Curhan 《American journal of kidney diseases》1998,32(5):802-807
Cross-sectional and prospective studies of men suggest a positive association between nephrolithiasis and hypertension. However, this association remains controversial in women. We conducted a prospective study of the relation between nephrolithiasis and the risk for hypertension in the Nurses' Health Study, a cohort of 89,376 women aged 34 to 59 years in 1980. Information on the history of nephrolithiasis, physician-diagnosed hypertension, and other relevant exposures was obtained by biennial mailed questionnaire. A history of nephrolithiasis before 1980 was reported by 2,558 women (2.9%), and a history of hypertension was reported by 11,883 women (13.3%). Among women without hypertension before 1980, 12,540 women reported a new diagnosis of hypertension between 1980 and 1992, during 711,039 person-years of follow-up. Compared with those without a history of nephrolithiasis, the age-adjusted relative risk (RR) for incident hypertension in women with such a history was 1.36 (95% confidence interval [CI], 1.20 to 1.43). After further adjustment for body mass index (BMI) and the intake of calcium, sodium, potassium, magnesium, caffeine, and alcohol, the RR was only slightly attenuated (RR=1.24; 95% CI, 1.13 to 1.37). In contrast, the occurrence of incident nephrolithiasis during follow-up was similar in women with hypertension at baseline compared with women without (adjusted odds ratio [OR]=1.01; 95% CI, 0.85 to 1.20). These data are consistent with the results obtained in men and support the hypothesis that a history of nephrolithiasis is associated with an increased risk for subsequent hypertension. Dietary factors, such as the intake of calcium, sodium, and potassium, do not explain this association. Unidentified pathogenic mechanisms common to nephrolithiasis and hypertension may be responsible for the development of both disorders. 相似文献
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Bob Symonds RMN RCNT Cert Ed FE MA 《Journal of advanced nursing》1998,27(5):946-954
This paper explores mental health legislation from a philosophical and sociological perspective. It is argued that mental health law exists primarily as a coercive social control instrument and that the maintenance of a separate legislative framework for the mentally ill is based upon dubious legal and philosophical grounds. The need for changes in mental health law has been accelerated by the move in Britain toward care in the community. One of the most important issues at the centre of the debate revolves around the concept of 'dangerousness' and mental disorder. The research into the extent to which the risk of violence can be predicted appears problematic from a reform perspective. Prediction is considered to be the overriding problem that leads to a violation of patients' civil rights, especially in relation to black and ethnic minority groups. Equity in law is necessary for the protection of patient's rights and particularly for the protection of those people who enter mental health care systems concerned with issues of control at the expense of care. 相似文献
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Bob Symonds RMN RCNT Cert Ed FE MA 《Journal of advanced nursing》1995,22(1):94-100
This paper explores the origins of insane asylums in 19th century England by comparing the official 'received' medically dominated perspective with an alternative sociological perspective The major structural changes in provision are addressed as the focus for analysing the differing histories A brief review is presented of the responses to insane people prior to the national asylum programme following the 1845 Lunacy Act, and of the reform logic that underpinned asylum care The alternative sociological perspective presents the origins of psychiatric asylums as part of the social and economic changes occuring generally at that time As such the origins of insane asylums are presented as part of a state-guided 'sanitary'movement which included poor, criminal and insane people within its remit The effect of state-guided correction was the segregation of insane people from both the general population and other deviants who were formerly classed together Insane people are thus presented as a group of deviants who departed most radically from the 'rational individualist' qualities of self-control, predictability and responsibility required in the industrialized world of capital social relations that emerged during the last century 相似文献
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Rats were given enemas of Gastrografin in two strengths, Renografin--76, and Tween--80 in a 10% dilution. There were no deleterious effects on the colons with these media used in volumes to fill the colon. Severe changes resulted from volumes which produced overdistention. 相似文献
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