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991.
Itamar S. Santos Márcio S. Bittencourt Ilka R.S. Oliveira Angelita G. Souza Danilo P. Meireles Tatjana Rundek Murilo Foppa Daniel C. Bezerra Cláudia M.V. Freire Leonard H. Roelke Sayonara Carrilho Isabela M. Benseñor Paulo A. Lotufo 《Atherosclerosis》2014
Objective
Carotid intima–media thickness (IMT) is a noninvasive measurement of early atherosclerosis. Most IMT studies have involved populations with low rates of racial blending. The aim of the present article is to describe IMT value distributions and analyze the influence of sex and race on IMT values in a large Brazilian sample, a setting with a high rate of racial admixture.Methods
The Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) is a multicenter cohort of 15,105 adult (aged 35–74 years) civil servants in six Brazilian cities. Baseline assessment included IMT measurements in both common carotid arteries. Race was self-reported. We studied the association between sex and race with IMT values using multiple linear regression models. We conducted analyses in all and low-risk individuals, defined as those without classical cardiovascular risk factors.Results
We analyzed complete IMT data from 10,405 ELSA-Brasil participants. We present nomograms by age for all and low-risk individuals, stratified by sex and race. We found that men had significantly higher maximal IMT values compared with women (β = 0.058; P < 0.001). This association remained for low-risk individuals (β = 0.027; P = 0.001). In addition, Brown and White individuals had lower maximal IMT values compared with Black individuals for all (β = −0.034 and β = −0.054, respectively; P < 0.001) and low-risk individuals (β = −0.027; P = 0.013 and β = −0.035; P < 0.001, respectively).Conclusion
We found significantly higher IMT values in men. We found significantly higher IMT values in Black individuals than White and Brown individuals. These results persisted when analyses were restricted to low-risk individuals. 相似文献992.
Carolina P. de Souza Melo Catharina B. Campos Juliana de Oliveira Rodrigues Joaquim C. Aguirre‐Neto Ângelo Atalla Mara A. D. Pianovski Edna K. Carbone Luciana B. Q. Lares Hélio Moraes‐Souza Shirlei Octacílio‐Silva Fabiano S. M. Pais Alessandro C. de Souza Ferreira Juliana G. Assumpção 《British journal of haematology》2016,173(2):318-320
Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next‐generation‐sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical‐grade validation of negative results requires the test to distinguish between lack of adequate sequencing reads at the locations of known mutations and a real absence of mutations. To achieve a clinically‐reliable diagnostic test and minimize false‐negative results we developed an open‐source tool (CoverMi) to accurately determine base‐coverage and the ‘discoverability’ of known mutations for every sample. We validated our 33‐gene panel using Sanger sequencing and microarray. Our panel demonstrated 100% specificity and 99·7% sensitivity. We then analysed 57 clinical samples: molecular diagnoses were made in 22/57 (38·6%), corresponding to 32 mutations of which 16 were new. In all cases, accurate molecular diagnosis had a positive impact on clinical management. Using a validated NGS‐based platform for routine molecular diagnosis of previously undiagnosed congenital anaemias is feasible in a clinical diagnostic setting, improves precise diagnosis and enhances management and counselling of the patient and their family. 相似文献
993.
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification
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Roberta R. Lemos Eliana M. Ramos Andrea Legati Gaël Nicolas Emma M. Jenkinson John H. Livingston Yanick J. Crow Dominique Campion Giovanni Coppola João R. M. Oliveira 《Human mutation》2015,36(5):489-495
Primary familial brain calcification (PFBC) is a heterogeneous neuropsychiatric disorder, with affected individuals presenting a wide variety of motor and cognitive impairments, such as migraine, parkinsonism, psychosis, dementia, and mood swings. Calcifications are usually symmetrical, bilateral, and found predominantly in the basal ganglia, thalamus, and cerebellum. So far, variants in three genes have been linked to PFBC: SLC20A2, PDGFRB, and PDGFB. Variants in SLC20A2 are responsible for most cases identified so far and, therefore, the present review is a comprehensive worldwide summary of all reported variants to date. SLC20A2 encodes an inorganic phosphate transporter, PiT‐2, widely expressed in various tissues, including brain, and is part of a major family of solute carrier membrane transporters. Fifty variants reported in 55 unrelated patients so far have been identified in families of diverse ethnicities and only few are recurrent. Various types of variants were detected (missense, nonsense, frameshift) including full or partial SLC20A2 deletions. The recently reported SLC20A2 knockout mouse will enhance our understanding of disease mechanism and allow for screening of therapeutic compounds. In the present review, we also discuss the implications of these recent exciting findings and consider the possibility of treatments based on manipulation of inorganic phosphate homeostasis. 相似文献
994.
Frebourg T Oliveira C Hochain P Karam R Manouvrier S Graziadio C Vekemans M Hartmann A Baert-Desurmont S Alexandre C Lejeune Dumoulin S Marroni C Martin C Castedo S Lovett M Winston J Machado JC Attié T Jabs EW Cai J Pellerin P Triboulet JP Scotte M Le Pessot F Hedouin A Carneiro F Blayau M Seruca R 《Journal of medical genetics》2006,43(2):138-142
995.
Incorporation and Remodeling of Bone Block Allografts in the Maxillary Reconstruction: A Randomized Clinical Trial
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996.
dos Reis SB de Oliveira CC Acedo SC Miranda DD Ribeiro ML Pedrazzoli J Gambero A 《Phytotherapy research : PTR》2009,23(3):324-329
Inflammatory bowel disease (IBD), Crohn's disease and ulcerative colitis are chronic enteropathies that probably result from a dysregulated mucosal immune response. These pathologies are characterized by oxidative and nitrosative stress, leukocyte infiltration and up-regulation of pro-inflammatory substances. Current IBD treatment presents limitations in both efficacy and safety that stimulated the search for new active compounds. Garcinia cambogia extract has attracted interest due to its pharmacological properties, including gastroprotective effects. In this study, the antiinflammatory activity of a garcinia extract was assessed in TNBS-induced colitis rats. The results obtained revealed that garcinia administration to colitic rats significantly improved the macroscopic damage and caused substantial reductions in increases in MPO activity, COX-2 and iNOS expression. In addition, garcinia extract treatment was able to reduce PGE(2) and IL-1beta colonic levels. These antiinflammatory actions could be related to a reduction in DNA damage in isolated colonocytes, observed with the comet assay. Finally, garcinia extract caused neither mortality nor toxicity signals after oral administration. As such, the antiinflammatory effects provided by the Garcinia cambogia extract result in an improvement of several parameters analysed in experimental colitis and could provide a source for the search for new antiinflammatory compounds useful in IBD treatment. 相似文献
997.
Marco Antonio Botelho Rinaldo Araujo dos Santos Jose Galberto Martins Cintia Oliveira Carvalho Mabel Calina Paz Cláudio Azenha Ronaldo Sousa Ruela Dinalva Brito Queiroz Wagner Sousa Ruela Gloria Marinho Francisca Isabel Ruela 《Phytotherapy research : PTR》2009,23(9):1214-1219
An open, randomized, controlled study with two parallel treatment groups was done to evaluate the efficacy of a Lippia sidoides essential oil (EO) 1% mouthrinse compared with chlorhexidine 0.12% mouthrinse, applied two times daily for 1 week, in the treatment of dental plaque and gingivitis. Fifty‐five patients were included in the study. The efficacy variables were the colony count of Streptococcus mutans from the stimulated saliva and periodontal indices on days 0, 7 and 30 after commencement of therapy. Twenty eight patients received chlorhexidine mouthrinse (Periogard®) and 27 Lippia sidoides essential oil mouthrinse (Cepakill®). The clinical and microbiological parameters were significantly reduced by both mouthrinses. No significant difference was seen between the two groups (p > 0.05). There was a significant reduction in the colony count of S. mutans in both groups (p < 0.05). Chlorhexidine treatment reduced more efficiently than L. sidoides, however, no statistical difference was seen, the efficacy of both groups was similar (p = 0.3). The results indicate that Chlorhexidine mouthrinse reduced plaque index, gingival bleeding and the number of CFU (colonies forming units) more efficiently than L. sidoides but did not reach statistical significance. This study demonstrated that Lippia sidoides EO mouthrinse is effective in reducing microbial plaque and gingival inflammation. Copyright © 2009 John Wiley & Sons, Ltd. 相似文献
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