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991.
Anne Frühmesser Jonathon Blake Edda Haberlandt Bianka Baying Benjamin Raeder Heiko Runz Ana Spreiz Christine Fauth Vladimir Benes Gerd Utermann Johannes Zschocke Dieter Kotzot 《European journal of human genetics : EJHG》2013,21(10):1177-1180
Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the development of various next-generation sequencing techniques, fast and specific analyses of the breakpoint regions of chromosomal rearrangements are possible. Here, we report on a 19-year-old woman with a de novo balanced translocation t(2;8)(p13.2;q22.1) and a severe clinical phenotype including intellectual disability, epilepsy, behavioral features resembling autism, and minor dysmorphic features. By next-generation sequencing, we defined the breakpoints and found disruption of the exocyst complex component 6B (EXOC6B) gene in intron 1 on chromosome 2p13.2 involving two Alu elements with a homology of 81%. No gene was found at the respective breakpoint on chromosome 8. Expression analysis of the EXOC6B in blood lymphocytes and buccal smear revealed reduced expression in the patient in comparison with the control. Our findings in combination with one recently published case and one other patient listed in DECIPHER v5.1 indicate EXOC6B as a gene relevant for intellectual development and electrophysiological stability. 相似文献
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Dolors Costa Concha Muoz Ana Carri Meritxell Nomdedeu Xavier Calvo Francesc Sol Elisa Luo Jos Cervera Teresa Vallespí Daniela Berneaga Cndida Gmez Amparo Arias Esperanza Such Guillermo Sanz Javier Grau Andrs Insunza María J. Calasanz María T. Ardaaz Jesús M. Hernndez Gemma Azaceta Sara lvarez Joaquín Snchez María L. Martín Joan Bargay Valle Gmez Carlos Javier Cervero María J. Allegue Rosa Collado Elias Campo Benet Nomdedeu 《Genes, chromosomes & cancer》2013,52(8):753-763
The infrequency of translocations in myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemias (CMML) makes their identification and reporting interesting for the recognition of the recurrent ones and the genes involved in these neoplasias. The aims of this study were to identify new translocations associated with MDS and CMML and to establish their frequency in a cohort of 8,016 patients from the Spanish Group of MDS database. The karyotype was evaluable in 5,654 (70%) patients. Among those, 2,014 (36%) had chromosomal abnormalities, including 213 (10%) translocations identified in 195 patients. The translocations were balanced in 183 (86%) cases and unbalanced in 30 (14%) cases. All chromosomes were found to be involved in translocations, with the single exception of the Y chromosome. The chromosomes most frequently involved were in decreasing frequency: 3, 1, 7, 2, 11, 5, 12, 6, and 17. Translocations were found in karyotypes as the unique chromosomal abnormality (33%), associated with another chromosomal abnormality (11%), as a part of a complex karyotype (17%), and as a part of a monosomal karyotype (38%). There were 155 translocations not previously described in MDS or CMML and nine of them appeared to be recurrent. © 2013 Wiley Periodicals, Inc. 相似文献
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Amanda Karolina Soares e Silva Dilênia de Oliveira Cipriano Torres Sura Wanessa Santos Rocha Fabiana Oliveira dos Santos Gomes Bruna dos Santos Silva Mariana Aragão Matos Donato Catarina Raposo Ana Célia Oliveira Santos Maria do Carmo Alves de Lima Suely Lins Galdino Ivan da Rocha Pitta José Roberto Botelho de Souza Christina Alves Peixoto 《Cardiovascular pathology》2013,22(1):81-90
BackgroundAtherosclerotic cardiovascular disease is a chronic inflammatory condition. Thiazolidinediones (TZDs) are used to enhance sensitivity to insulin and have demonstrated a protective effect over a variety of cardiovascular markers and risk factors. Controversially, the TZDs are associated with the development of heart failure. Thus, lines of research have invested in the search for new molecules in order to obtain more selective and less harmful treatment alternatives for the pathogenesis of atherosclerosis and its risk factors.MethodsAnimals were fed a diet rich in fat for 10 weeks. In the last 2 weeks, animals received either pioglitazone, LPSF/GQ-02, or LPSF/GQ-16 daily through gavage. At the end of the treatment, blood was collected for biochemical analysis and the aortas were dissected for subsequent analyses.ResultsNo changes in the blood lipid profile were found following the use of the drugs in comparison to the control. However, the new thiazolidine derivatives were more efficient in improving insulin resistance in comparison to pioglitazone and the control group. Morphometric analyses revealed that neither pioglitazone nor LPSF/GQ16 led to satisfactory effects over atherosclerosis. However, LPSF/GQ-02 led to a reduction in area of the atherosclerotic lesions. Ultrastructural analyses revealed extensive degeneration of the endothelium and an increase in apoptotic cells in the subendothelial space following the use of pioglitazone and LPSF/GQ-16. However, LPSF/GQ-02 caused minimal cell alterations in the aortic endothelium. Regarding markers, endothelial nitric oxide synthase (eNOS) and matrix metalloproteinase 9 (MMP-9), LPSF/GQ-16, and pioglitazone exerted similar effects, increasing the expression of MMP-9, and had no effect on the expression of eNOS compared with the control group. On the other hand, LPSF/GQ-02 was effective in reducing the expression of MMP-9 and increased eNOS significantly.ConclusionsThe results suggest that the new thiazolidine derivative LPSF/GQ-02 is a promising candidate for the treatment of atherosclerosis. 相似文献
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Salles Marcela Moreira Oliveira Viviane de Cássia Macedo Ana Paula do Nascimento Cássio Silva-Lovato Cláudia Helena Paranhos Helena de Freitas Oliveira 《Odontology / the Society of the Nippon Dental University》2021,109(1):284-294
Odontology - Evaluate, through a randomized clinical trial, the efficacy of brushing associated with oral irrigation in maintaining implant and overdenture hygiene. Thirty-eight participants, who... 相似文献
999.
Medina-Palacios Sara Edith Vitales-Noyola Marlen López-González Emmanuel González-Amaro Ana María Méndez-González Verónica Pozos-Guillén Amaury 《Odontology / the Society of the Nippon Dental University》2021,109(3):596-604
Odontology - Secondary/persistent infections are present in teeth with previous root canal treatment, and a great variety of anaerobic microorganisms has been observed in these infections. The... 相似文献
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