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Registros recuperados: 13
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Altered calcium currents in cultured sensory neurons of normal and trisomy 16 mouse fetuses, an animal model for human trisomy 21 (Down Syndrome) Biol. Res.
CAVIEDES,PABLO; CAVIEDES,RAÚL; RAPOPORT,STANLEY I.
Down syndrome is determined by the presence of an extra copy of autosome 21 and is expressed by multiple abnormalities, with mental retardation being the most striking feature. The condition results in altered electrical membrane properties of fetal dorsal root ganglia (DRG) neurons, as in the trisomy 16 fetal mouse, an animal model of the human condition. Cultured trisomic DRG neurons from human and mouse fetuses present faster rates of depolarization and repolarization in the action potential compared to normal controls and a shorter spike duration. Also, trisomy 16 brain and spinal cord tissue exhibit reduced acetylcholine secretion. Therefore, we decided to study Ca2+ currents in cultured DRG neurons from trisomy 16 and age-matched control mice, using...
Tipo: Journal article Palavras-chave: Trisomy 16; Dorsal root ganglion; Calcium current; Tissue culture; Patch clamp; Down syndrome.
Ano: 2006 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000300009
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Antibody response to pneumococcal capsular polysaccharide vaccine in Down syndrome patients BJMBR
Costa-Carvalho,B.T.; Martinez,R.M.A.; Dias,A.T.N.; Kubo,C.A.; Barros-Nunes,P.; Leiva,L.; Solé,D.; Carneiro-Sampaio,M.M.S.; Naspitz,C.K.; Sorensen,R.U..
The majority of children with Down syndrome (DS) tend to have frequent bacterial infections including recurrent respiratory infections. Our objective was to evaluate the production of antibodies to pneumococcal polysaccharide antigens after active immunization in DS subjects. IgG antibodies to pneumococcal serotypes (1, 3, 6B, 9V, and 14) were measured before and 6 weeks after immunization with a 23-valent pneumococcal vaccine (Pneumo23®, Pasteur-Merrieux) in 6- to 13-year-old DS children (N = 17) and in aged-matched normal controls (N = 30). An adequate response was defined as a 4-fold increase over baseline or a post-immunization level of specific pneumococcal serotype antibody > or = 1.3 µg/mL. After immunization, all DS children had an increase in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Immunoglobulin; IgG subclass; Polysaccharide vaccine; Streptococcus pneumoniae; Pneumococcal antibodies.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200010
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Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome BJMBR
Kong,X.D.; Liu,N.; Xu,X.J..
In this study, biomarkers and transcriptional factor motifs were identified in order to investigate the etiology and phenotypic severity of Down syndrome. GSE 1281, GSE 1611, and GSE 5390 were downloaded from the gene expression ominibus (GEO). A robust multiarray analysis (RMA) algorithm was applied to detect differentially expressed genes (DEGs). In order to screen for biological pathways and to interrogate the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway database, the database for annotation, visualization, and integrated discovery (DAVID) was used to carry out a gene ontology (GO) function enrichment for DEGs. Finally, a transcriptional regulatory network was constructed, and a hypergeometric distribution test was applied to select for...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Candidate gene; Biomarker; Transcriptional factor motifs.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000834
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Expression of beta 2 integrin (CD18) in embryonic mouse and chicken heart BJMBR
Oliveira,L.A.M.; Baker,R.K.; Klewer,S.E.; Kitten,G.T..
Integrins are heterodimeric receptors composed of α and β transmembrane subunits that mediate attachment of cells to the extracellular matrix and counter-ligands such as ICAM-1 on adjacent cells. β2 integrin (CD18) associates with four different α (CD11) subunits to form an integrin subfamily, which has been reported to be expressed exclusively on leukocytes. However, recent studies indicate that β2 integrin is also expressed by other types of cells. Since the gene for β2 integrin is located in the region of human chromosome 21 associated with congenital heart defects, we postulated that it may be expressed in the developing heart. Here, we show the results from several different techniques used to test this hypothesis. PCR analyses indicated that β2...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Beta 2 integrin; CD18; Cardiac development; Epithelial-mesenchymal transformation; Down syndrome; Mouse and chicken cardiogenesis.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100005
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Genetics Analysis with Down Syndrome and Histopathological Examination of Buccal Epithelial Cells International Journal of Morphology
Kalkanli,S; Simsek,S; Balkan,M; Akbas,H; Isi,H; Oral,D; Turkyilmaz,A; Fidanboy,M; Deveci,E; Baran,O; Kalkanli,N; Alp,M. N; Budak,T.
Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome,...
Tipo: Journal article Palavras-chave: Down syndrome; Buccal mucosa; Southeast Turkey; Chromosomal abnormalities; Genetic counseling.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000200053
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Genotypic analysis of c677t and a1298c polymorphisms in the methylene tetrahydrofolate reductase gene and a66g polymorphism in the methionine sintase reductase gene in down syndrome JBAG
Rengifo Ramos,L; Gaviria Arias,D.
The C677T and A1298C polymorphisms in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) and the A66G polymorphism in the methionine sintase reductase gene (MTRR) were analyzed -using PCR-RFLP- in 141 individuals with Down syndrome and 200 control individuals (108 men and 92 women) in a Colombian coffee growing region. Allelic and genotypic frequencies were very similar in both populations. The 677CT, 1298AA and 66AG genotypes were most common in the Down syndrome population whereas the 677CC and 66AA genotypes were most common in the controls. In comparing allelic and genotypic frequencies in both populations using Pearson´s X2 test and Odds Ratio, no statistically significant differences were found. The MTHFR T---A haplotype was the most frequent...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Genotypes; MTHFR; MTRR.
Ano: 2014 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332014000100003
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Maternal age and Down syndrome in Southeastern Brazil Braz. J. Genet.
Beiguelman,Bernardo; Krieger,Henrique; Silva,Luciana Marques da.
The proportion of maternal-age-independent patients estimated among 200 Brazilian Down syndrome children (59.6%) was significantly larger than that of maternal-age-dependent cases (40.4%). The latter proportion is the smallest observed in pertinent literature and due basically to the low mean maternal age of the population analyzed. Based on the remarkable correlation (r = 0.95) between the proportion of maternal-age-dependent patients and the mean maternal age of the general population, a simple predictive equation to estimate the proportion of maternal-age-dependent Down syndrome patients based on the mean maternal age of the general population is suggested in situations where reliable data on the incidence of this syndrome according to maternal age is...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Maternal age; Down syndrome; Southeastern Brazil.
Ano: 1996 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400020
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Micronucleated lymphocytes in parents of Down syndrome children BJMBR
Silva-Grecco,R.L.; Navarro,G.C.; Cruz,R.M.; Balarin,M.A.S..
Down syndrome (DS) is the most common disease due to an autosomal aneuploidy in live born children and also the major known genetic cause of mental retardation. The risk of a DS pregnancy increases substantially with increasing maternal age. However, several women aged less than 35 years at conception have a child with DS. The micronucleus (MN) assay can identify chromosome breakage or chromosome malsegregation and is an ideal biomarker to investigate genomic instability. The aim of the present study was to determine the frequency of peripheral lymphocytes with MN in the parents of DS individuals. The subjects were 17 couples, 1 father and 9 mothers, and 24 couples who had at least one healthy child formed the control group. For each individual we...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Micronuclei; Parents of Down syndrome children; Chromosomal nondisjunction; Down syndrome.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000700002
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Quantitative Evaluation of the Facial Morphology of a Tolteca Figurine from Mexico using Geometric Morphometric Approaches International Journal of Morphology
Starbuck,John M.
Morphometric approaches can be combined with 2D or 3D imaging to quantitatively evaluate craniofacial medical conditions depicted in material culture and to learn more about the culture being studied. A terra-cotta figurine (circa 500 A.D.) from the Tolteca culture of Mexico has previously been qualitatively "diagnosed" with Down syndrome (DS) based on the presence or absence of facial features typically associated with trisomy 21. The purpose of this research is to quantitatively test the hypothesis that the Tolteca figurine exhibits facial features consistent with DS. Landmarks (n = 24) were acquired from sex- and age-matched (5-20 yrs) facial images of DS individuals (n = 32), euploid individuals (n = 32), and the Tolteca figurine. Landmark coordinates...
Tipo: Journal article Palavras-chave: Trisomy 21; Down syndrome; 3dMD; Euclidean distance matrix analysis (EDMA); Principal coordinates analysis.
Ano: 2014 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022014000200021
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Salivary testosterone and immunoglobulin A were increased by resistance training in adults with Down syndrome BJMBR
Fornieles,G.; Rosety,M.A.; Elosegui,S.; Rosety,J.M.; Alvero-Cruz,J.R.; Garcia,N.; Rosety,M.; Rodriguez-Pareja,T.; Toro,R.; Rosety-Rodriguez,M.; Ordonez,F.J.; Rosety,I..
This study was designed to assess the influence of resistance training on salivary immunoglobulin A (IgA) levels and hormone profile in sedentary adults with Down syndrome (DS). A total of 40 male adults with DS were recruited for the trial through different community support groups for people with intellectual disabilities. All participants had medical approval for participation in physical activity. Twenty-four adults were randomly assigned to perform resistance training in a circuit with six stations, 3 days per week for 12 weeks. Training intensity was based on functioning in the eight-repetition maximum (8RM) test for each exercise. The control group included 16 age-, gender-, and BMI-matched adults with DS. Salivary IgA, testosterone, and cortisol...
Palavras-chave: Down syndrome; Resistance training; Saliva; Immunoglobulin A; Testosterone; Cortisol.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000400345
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Seroprevalence of hepatitis A antibodies in a group of normal and Down Syndrome children in Porto Alegre, Southern Brazil BJID
Ferreira,Cristina Targa; Leite,Júlio César; Taniguchi,Adriano Nori R.; Vieira,Sandra Maria G.; Pereira-Lima,Jorge; Silveira,Themis Reverbel da.
The high incidence of Hepatitis A and B in institutionalized patients with Down Syndrome (DS) is not fully understood. Under poor hygienic conditions, immunological alterations might predispose individuals to these infections. Sixty three DS children between 1 and 12 years old living at home with their families were examined for anti-HAV and compared to age-matched controls (64 healthy children). This cross-sectional study was carried out from May, 1999, to April, 2000, at the Hospital de Clínicas of Porto Alegre, southern Brazil. Groups were compared in terms of age, sex, skin color, and family income (> R$ 500 and < R$ 500/ month) by the chi-square test, with Yates' correction and for the prevalence of anti-HAV (Fisher's exact test). In the DS...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Hepatitis A; Seroprevalence.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702002000500003
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Small-molecule aggregation inhibitors reduce excess amyloid in a trisomy 16 mouse cortical cell line Biol. Res.
LIMA,ANDRÉA C PAULA; ARRIAGADA,CHRISTIAN; TORO,RODRIGO; CÁRDENAS,ANA MARÍA; CAVIEDES,RAÚL; FERREIRA,SERGIO T; CAVIEDES,PABLO.
We have previously characterized a number of small molecule organic compounds that prevent the aggregation of the &#946;-amyloid peptide and its neurotoxicity in hippocampal neuronal cultures. We have now evaluated the effects of such compounds on amyloid precursor protein (APP) accumulation in the CTb immortalized cell line derived from the cerebral cortex of a trisomy 16 mouse, an animal model of Down's syndrome. Compared to a non-trisomic cortical cell line (CNh), CTb cells overexpress APP and exhibit slightly elevated resting intracellular Ca2+ levéis ([Ca2+]¡). Here, we show that the compounds 2,4-dinitrophenol, 3-nitrophenol and 4-anisidine decreased intracellular accumulation of APP in CTb cells. Those compounds were non-toxic to the cells, and...
Tipo: Journal article Palavras-chave: Alzheimer's disease; Down syndrome; Intracellular amyloid; Murine trisomy 16; Small molecule inhibitors.
Ano: 2008 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602008000200001
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The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome BJMBR
Biselli,J.M; Goloni-Bertollo,E.M; Haddad,R; Eberlin,M.N; Pavarino-Bertelli,E.C.
Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR), of A2756G polymorphism in the methionine synthase gene (MTR), and of A80G polymorphism in the reduced folate carrier 1 gene on Hcy concentrations in Brazilian DS patients. Fifty-six individuals with free trisomy 21 were included in the study. Plasma Hcy concentrations were measured by liquid chromatography_tandem mass spectrometry with linear regression coefficient r² = 0.9996, average...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Trisomy 21; Polymorphism; Homocysteine; Mass spectrometry (LC-MS/MS).
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000100006
Registros recuperados: 13
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