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Registros recuperados: 13 | |
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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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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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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 β-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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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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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 |
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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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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... |
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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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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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Registros recuperados: 13 | |
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