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1.
Laysa Toschi Martins Henrique Ravanhol Frigeri Caio Cesar Silva de Castro Marcelo Távora Mira 《Experimental dermatology》2020,29(6):535-538
The aetiology of vitiligo has not been fully elucidated, and several hypotheses have been investigated; among them, the most explored assumes an autoimmune basis for the disease. Supporting this hypothesis is the frequent co-occurrence of autoimmune diseases with vitiligo. In addition, various genetic loci associated with vitiligo harbour key immune response genes. Our general hypothesis is that autoimmunity-associated genes participate in the control of vitiligo susceptibility. To investigate this hypothesis, we tested for association between vitiligo and genes CYP27B1, REL, TNFAIP3 and IL2/IL21, all previously related to autoimmune diseases associated with vitiligo. The study was performed using two independent population samples: a family-based discovery set (211 trios) and a replication set (131 cases/119 controls). Statistically significant association with vitiligo was detected between markers of the REL and IL2 gene in the family-based sample. Both association signals were concentrated among patients displaying autoimmune comorbidity and non-segmental vitiligo. Evidence for validation was detected for IL2 marker. Our findings suggest REL and IL2 as new vitiligo susceptibility genes and reinforce the hypothesis of a shared genetic mechanism controlling vitiligo and other autoimmune diseases. 相似文献
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杨娅 Thomas Bartel Loredana Latina Guido Caspari 王新房 Raimund Erbel 《华中科技大学学报(医学英德文版)》2002,22(2):158-163
Coronary flow reserve (CFR) has been used toassess coronary microcirculation and epicardial coro-nary stenoses[1— 3 ] . CFR is defined as the ratio ofcoronary flow under maximal coronary vasodilatationto coronary flow under resting conditions[4 ] .Whenthe cross- sectional area of epicardial coronary arteriesis constant,coronary flow velocity (CFV) ratios areequal to volume flow ratios.The most common method used clinically formeasuring CFVR is intracoronary Doppler flow(ICD) analysis re… 相似文献
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Jayme Augusto Bertelli Madgid Taleb Assia Saadi Jean-Claude Mira Monique Pecot-Dechavassine 《Microsurgery》1995,16(2):77-85
Despite the introduction of microsurgical techniques into clinical practice, the results of surgical procedures involving the brachial plexus and peripheral nerves are still far from spectacular. We therefore studied the rat brachial plexus and its terminal branches in 203 rats. Detailed anatomic and morphologic analyses of the biceps brachii and musculocutaneous nerve, finger flexors, flexor carpi radialis, and the median nerve were performed. Various sources of conventional and vascularized nerve grafts were explored. After musculocutaneous nerve section or median nerve section, there were no articular contractures or automutilations, which constitutes an advantage for these experimental models over the sciatic nerve model. The brachial plexus and its terminal branches provide a good experimental model which can be used to assess the development and normal control of muscle function, examine the mechanisms underlying functional recovery, and test the effects of treatments to enhance recovery. © 1995 Wiley-Liss, Inc. 相似文献
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Paul P. W. van Buul Iris M. Zandman Mira Grigorova Jan J. W. A. Boei Adayapalam T. Natarajan 《Chromosome research》1995,3(7):427-432
The efficiency of two methods of detection of translocations induced in mouse stem cell spermatogonia by X-ray doses of 2, 5 and 7 Gy was compared: classical multivalent analysis at diakinesis-metaphase I of meiosis and observation via fluorescencein situ hybridization analysis of mitotic or meiotic stages. Specific DNA libraries for chromosomes 1, 11 and 13 were used. The results obtained indicate that (a) chromosomes 1, 11 and 13 are more involved in multivalent formation than expected on the basis of DNA content and (b) if the mitotic FISH analysis data are corrected for the observed over-representation, the frequencies of induced translocations are similar to those recorded in the classical multivalent studies, suggesting equal scoring efficiencies in both systems. 相似文献
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Madhubala Devi S. Subadani Devi Kaushik Debnath Th. Mira Devi H. Nabachandra Singh 《Indian journal of hematology & blood transfusion》2007,23(3-4):109-111
An autopsy finding of sudden death due to disseminated intra-vascular sickling of RBCs in a young adult male from Madhya Pradesh while undergoing army recruitment rally, is reported because of its rarity in this part of the country. 相似文献
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Mira Karrasch Matti Laine Juha O Rinne Pekka Rapinoja Eija Sinerv? Christina M Krause 《International journal of psychophysiology》2006,59(2):168-178
We report preliminary findings on EEG oscillatory correlates of working memory in mild cognitive impairment (MCI) and Alzheimer's disease (AD). Event-related desynchronization (ERD) and synchronization (ERS) of the 1-20 Hz EEG frequencies were studied using wavelet transforms in elderly controls, MCI patients and mild probable AD patients performing an auditory-verbal Sternberg memory task. Behaviourally, the AD patients made more errors than the controls and the MCI group. Statistically significant differences during the encoding of the memory set were found between the controls and the MCI group, such that the latter group showed ERD in the approximately 10-20 Hz frequencies. The findings may reflect different, compensatory encoding strategies in MCI. During retrieval, the most obvious differences were observed between the controls and the AD group: the ERD in the approximately 7-17 Hz frequencies was absent in the AD group particularly in anterior and left temporal electrode locations. This finding might indicate that AD is associated with deficient lexical-semantic processing during the retrieval phase in working memory tasks. Future studies with larger patient groups are needed to establish the diagnostic value of ERD/ERS patterns in MCI and AD. 相似文献
10.
Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysis. 下载免费PDF全文
R Almeida P Fidalgo E Ramalho A Brás N Leit?o C Mira J Rueff C Monteiro 《Journal of medical genetics》1996,33(3):244-247
Owing to the large size of the APC gene, responsible for familial adenomatous polyposis, direct screening for individual mutations is not a practical approach. In the present study we establish the methodology of fluorescence based semi-automated DNA analysis to perform presymptomatic diagnosis of members at risk from 11 Portuguese FAP families with three (CA)n markers flanking the APC gene, MBC, CB26, and YN5.64, and four intragenic RFLPs. Haplotypes were constructed on the basis of individual genotypes and their segregation through generations were followed. The study was informative for 12% of subjects using only intragenic RFLPs and increased to 90% when we used the three (CA)n flanking markers. We report two of the 11 families under study in our laboratory and show recombinant events leading to a precise localisation of the CB26 marker between D5S82 and the APC gene. In one family there was a loss of (CA) units of one allele of the CB26 marker from an unaffected mother to her son. 相似文献