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991.
Dystonias are clinically and genetically heterogeneous neurological disorders that affect movement, and are the focus of much investigative work. The recent identification of mutations in the gene THAP1 in DYT6 dystonia reopens the very interesting question of the in fine involvement of dopamine in the different types of dystonia. In this review, we will go through the recent literature in order to evaluate the many contributions to this theory as well as to highlight the difficulties in identifying a global regulatory pathway for the different forms of this disease that we are just starting to decipher. 相似文献
992.
993.
Cai Cheng MD PhD Elodie Debefve PhD Amina Haouala MS Snezana Andrejevic‐Blant MD Thorsten Krueger MD Jean‐Pierre Ballini PhD Solange Peters MD PhD Laurent Decosterd PhD Hubert van den Bergh PhD Georges Wagnieres PhD Jean Y. Perentes MD PhD Hans‐Beat Ris MD 《Lasers in surgery and medicine》2010,42(5):391-399
994.
995.
Charriere S Bernard S Aqallal M Merlin M Billon S Perrot L Le Coquil E Sassolas A Moulin P Marcais C 《Clinica chimica acta; international journal of clinical chemistry》2008,394(1-2):99-103
BACKGROUND: Two minor apolipoprotein A5 (APOA5) gene haplotypes, represented by -1131T>C and S19W polymorphisms, are strong determinants of plasma triglyceride (TG) concentration variability across human populations. Hypertriglyceridemia is frequent in type 2 diabetes (T2D) and hyperchylomicronemia is not uncommon. METHODS: We investigated the association of -1131T>C and S19W polymorphisms with diabetic dyslipidemia in 400 Caucasian T2D patients divided in 2 groups: group N with 130 normotriglyceridemics (TG<90th percentile) and group M with 270 moderately hypertriglyceridemics. A third group of 51 diabetic patients (group H) with history of hyperchylomicronemia (TG>15 mM) was also studied. RESULTS: The -1131C allele was more frequent in both mild and severe hypertriglyceridemia (20.6% vs 9.8% vs 5.0%, group H vs M vs N, p<0.001). The 19W allele was more frequent only in patients with hyperchylomicronemia (14.0% vs 6.5% vs 6.1%, group H vs M vs N, p=0.001). In group N+M, the -1131C allele was associated with higher TG (+13%, p=0.034) and lower HDLc (-10%, p=0.004). The 19W allele was only associated with lower HDLc (-9%, p=0.022). CONCLUSION: These results suggest that in T2D APOA5 polymorphisms contribute to modulate dyslipidemia. Both -1131T>C and S19W polymorphisms are associated with hyperchylomicronemia and only -1131T>C polymorphism with mild hypertriglyceridemia. 相似文献
996.
Skeletal muscle telomere length is not impaired in healthy physically active old women and men 总被引:1,自引:0,他引:1
We have previously shown that the number of satellite cells is lower in old than young men and women. The aim of this study was to further explore the effects of aging on the regenerative potential of skeletal muscle in 16 young and 26 old men and women with comparable physical activity level (young, 25 +/- 4 years; old, 75 +/- 4 years). Mean and minimum telomere lengths were determined using Southern blot analyses on biopsies obtained from the tibialis anterior muscle. There were no significant age or gender effects on mean and minimal telomeric lengths, suggesting that the replicative potential in the remaining satellite cells in the tibialis anterior muscle is not impaired with increasing age and the existence of in vivo regulatory mechanisms allowing the maintenance of telomere length. These results imply that moderate physical activity regularly performed by old subjects is not associated with accelerated telomere loss. 相似文献
997.
Cerebral white matter deficiencies in pedophilic men 总被引:3,自引:0,他引:3
Cantor JM Kabani N Christensen BK Zipursky RB Barbaree HE Dickey R Klassen PE Mikulis DJ Kuban ME Blak T Richards BA Hanratty MK Blanchard R 《Journal of psychiatric research》2008,42(3):167-183
The present investigation sought to identify which brain regions distinguish pedophilic from nonpedophilic men, using unbiased, automated analyses of the whole brain. T1-weighted magnetic resonance images (MRIs) were acquired from men who demonstrated illegal or clinically significant sexual behaviors or interests (n = 65) and from men who had histories of nonsexual offenses but no sexual offenses (n = 62). Sexual interest in children was assessed by participants' admissions of pedophilic interest, histories of committing sexual offenses against children, and psychophysiological responses in the laboratory to erotic stimuli depicting children or adults. Automated parcellation of the MRIs revealed significant negative associations between pedophilia and white matter volumes of the temporal and parietal lobes bilaterally. Voxel-based morphometry corroborated the associations and indicated that the regions of lower white matter volumes followed, and were limited to, two major fiber bundles: the superior fronto-occipital fasciculus and the right arcuate fasciculus. No significant differences were found in grey matter or in cerebrospinal fluid (CSF). Because the superior fronto-occipital and arcuate fasciculi connect the cortical regions that respond to sexual cues, these results suggest (1) that those cortical regions operate as a network for recognizing sexually relevant stimuli and (2) that pedophilia results from a partial disconnection within that network. 相似文献
998.
Frédéric MY Clot F Cif L Blanchard A Dürr A Vuillaume I Lesca G Kreisler A Davin C Besnard T Rousset F Thorel D Saquet C Mechin D Ozelius L Agid Y Barroso B Chabrol B Chan V Clanet M Coubes C Destee A Nguyen K Vial C Vidailhet M Xie J Sablonniere B Calender A Brice A Roubertie A Coubes P Claustres M Tuffery-Giraud S Collod-Beroud G 《Neurogenetics》2008,9(2):143-150
Early onset torsion dystonia are rare movement disorders. Molecular defect is known for only a subgroup, consisting of a unique
and recurrent mutation in the TOR1A gene. We undertook a nationwide census of French TOR1A-mutation carriers and the assessment of clinical associated signs. Overall, 53 index cases and 104 relatives were studied
and haplotypes linked to the mutation constructed. The previously reported Ashkenazi-Jewish haplotype was found in 11 families
with the remainder carrying distinct haplotypes suggesting independent mutation events. This study demonstrates the scarcity
of this disease in France with estimated disease frequency of 0.13:100,000 and mutation frequency of 0.17:100,000.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
999.
Mathis S Scheper GC Baumann N Petit E Gil R van der Knaap MS Neau JP 《Clinical neurology and neurosurgery》2008,110(10):1035-1037
The “ovarioleukodystrophies” comprise a group of rare leukodystrophies associated with primary or premature ovarian failure. Some of the patients have a variant of “vanishing white matter disease” with mutations in subunits of eukaryotic initiation factor 2B (EIF2B). A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His. She had a progressive disease with development of tetraparesia in less than 6 years. Our observation confirms that ovarian failure in the context of a leukodystrophy warrants mutational analysis of the genes encoding the subunits of EIF2B. 相似文献
1000.
Blanchard EB Lackner JM Jaccard J Rowell D Carosella AM Powell C Sanders K Krasner S Kuhn E 《Journal of psychosomatic research》2008,64(2):119-128
Over 200 treatment-seeking irritable bowel syndrome (IBS) patients completed 4 weeks of daily prospective measures of stress and gastrointestinal symptoms as well as retrospective measures of stress (life events over 12 months, hassles over 1 month). We also obtained the stress measures on 66 nonill controls. Irritable bowel syndrome patients report more frequent hassles than controls and a greater stress impact than controls. Using structural equation modeling, we found that the data were consistent with a model of robust autocorrelation effects of both week-to-week gastrointestinal (GI) symptom indices (r=.84) and stress indices (r=.73), as well as strong concurrent effects of stress on IBS symptoms (r=.90) and vice versa (r=.41). The data also were consistent with a model where there were effects of stress in Week t upon GI symptoms in Week t+1 and t+2, but they were mediated through the concurrent week effects and/or autocorrelation effects. There were no statistically significant independent pathways from stress in Week t to GI symptoms in Week t+1 or t+2. Thus, there is more support for a reciprocal relation between stress and symptoms than there is for a causal relation. 相似文献