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排序方式: 共有150条查询结果,搜索用时 31 毫秒
1.
Sarah J Spence Rita M Cantor Lien Chung Sharon Kim Daniel H Geschwind Maricela Alarcón 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2006,(6):591-598
The identification of autism susceptibility genes has been hampered by phenotypic heterogeneity of autism, among other factors. However, the use of endophenotypes has shown preliminary success in reducing heterogeneity and identifying potential autism-related susceptibility regions. To further explore the utility of using language-related endophenotypes, we performed linkage analysis on multiplex autism families stratified according to delayed expressive speech and also assessed the extent to which parental phenotype information would aid in identifying regions of linkage. A whole genome scan using a multipoint non-parametric linkage approach was performed in 133 families, stratifying the sample by phrase speech delay and word delay (WD). None of the regions reached suggested genome-wide or replication significance thresholds. However, several loci on chromosomes 1, 2, 4, 6, 7, 8, 9, 10, 12, 15, and 19 yielded nominally higher linkage signals in the delayed groups. The results did not support reported linkage findings for loci on chromosomes 7 or 13 that were a result of stratification based on the language delay endophenotype. In addition, inclusion of information on parental history of language delay did not appreciably affect the linkage results. The nominal increase in NPL scores across several regions using language delay endophenotypes for stratification suggests that this strategy may be useful in attenuating heterogeneity. However, the inconsistencies in regions identified across studies highlight the importance of increasing sample sizes to provide adequate power to test replications in independent samples. 相似文献
2.
A new syndrome of triphalangeal thumbs and brachy-ectrodactyly 总被引:2,自引:0,他引:2
Alessandra Carnevale Maricela Hernández Victoria del Castillo Pablo Torres 《Clinical genetics》1980,18(4):244-252
Two Mexican families in which a total of 17 persons exhibited the same pattern of limb malformations are described. The syndrome is characterized by triphalangeal thumbs and brachydactyly affecting the index fingers and the third toes. The clinical findings are variable and the inheritance is autosomal dominant. The syndrome, to the best of our knowledge, has not been described before. 相似文献
3.
To test the hypothesis that the etiology of individual differences in reading performance differs in males and females, reading performance data from twin pairs tested in the Colorado Learning Disabilities Research Center were fitted to structural equation models of sex limitation. The sample included 513 pairs of twins in which at least one member of each pair has a positive school history of reading problems [228 monozygotic (MZ), 176 same-sex dizygotic (DZ), and 109 opposite-sex DZ pairs] and 302 matched control pairs [148 MZ, 98 same-sex DZ, and 56 opposite-sex DZ pairs]. Estimates of the genetic correlation between performance in males and females were obtained by analysis of data from both same-sex and opposite-sex twin pairs (Neale and Cardon, 1992). The full model fit the data well 2=17,74, df=16,p=0.340), and the resulting genetic parameter estimates were highly similar in males and females in both the proband and the control samples. The correlations between genetic influences in males and females do not differ among groups (change in 2=0.95, df=1,p0.25), and the resulting pooled estimate is about .5. Thus, results of this analysis suggest that the etiology of individual differences in reading performance may differ to some extent in males and females. 相似文献
4.
Maricela Garcés-Ortíz Constantino Ledesma-Montes José Reyes-Gasga 《Medicina oral, patología oral y cirugía bucal》2013,18(3):e537-e541
Objectives: The aim of this report is to present the results of a scanning electron microscopic study on the presence of matrix vesicles (MVs) found in human dentine.
Study Design: Dentin tissue from 20 human bicuspids was analyzed by means of scanning electron microscopy.
Results: MVs were found as outgrowths of the cellular membrane of the odontoblastic body, the more proximal portion of the odontoblastic process before entering the dentinal tubule and in the odontoblastic process within the inner third of the dentin. Size of MVs varied depending on location. In the inner third of dentin, they were seen in diverse positions; as membranal outgrowths, deriving from the odontoblastic process, lying free in the intratubular space and attached to the dentinal wall. Sometimes, they were seen organized forming groups of different sizes and shapes or as multivesicular chains running from the surface of the odontoblastic process to the tubular wall. MVs were present in places never considered: 1) the body of odontoblasts; 2) the most proximal part of the odontoblastic processes before entering the circumpulpal dentine and also: 3) in the inner third of dentinal tissue.
Conclusions: According to our results, MVs not only participate during mantle dentin mineralization during early dentinogenesis, they also contribute during the mineralization process of the inner dentin.
Key words:Dentin, microvesicles, secretory vesicles, dentin formation, dentin secretion. 相似文献
5.
6.
Antonio Ramos-Martínez Alejandro Muñoz Serrano Arístides de Alarcón González Patricia Muñoz Ana Fernández-Cruz Maricela Valerio María Carmen Fariñas Manuel Gutiérrez-Cuadra José Ma Miró Josefa Ruiz-Morales Dolores Sousa-Regueiro José Miguel Montejo Juan Gálvez-Acebal Carmen HidalgoTenorio Fernando Domínguez 《Journal of infection and chemotherapy》2018,24(7):555-562
Purpose
To analyze the influence of adding gentamicin to a regimen consisting of β-lactam or vancomycin plus rifampicin on survival in patients suffering from Staphylococcal prosthetic valve endocarditis (SPVE).Methods
From January 2008 to September 2016, 334 patients with definite SPVE were attended in the participating hospitals. Ninety-four patients (28.1%) received treatment based on β-lactam or vancomycin plus rifampicin and were included in the study. Variables were analyzed which related to patient survival during admission, including having received treatment with gentamicin.Results
Seventy-seven (81.9%) were treated with cloxacillin (or vancomycin) plus rifampicin plus gentamicin, and 17 patients (18.1%) received the same regimen without gentamicin. The causative microorganism was Staphylococcus aureus in 40 cases (42.6%) and coagulase-negative staphylococci in 54 cases (57.4%). Overall, 40 patients (42.6%) died during hospital admission, 33 patients (42.9%) in the group receiving gentamicin and 7 patients in the group that did not (41.2%, P = 0.899). Worsening renal function was observed in 42 patients (54.5%) who received gentamicin and in 9 patients (52.9%) who did not (p = 0.904). Heart failure as a complication of endocarditis (OR: 4.58; CI 95%: 1.84–11.42) and not performing surgery when indicated (OR: 2.68; CI 95%: 1.03–6.94) increased mortality. Gentamicin administration remained unrelated to mortality (OR: 1.001; CI 95%: 0.29–3.38) in the multivariable analysis.Conclusions
The addition of gentamicin to a regimen containing vancomycin or cloxacillin plus rifampicin in SPVE was not associated to better outcome. 相似文献7.
Maricela Carrasco-Yepez Rafael Campos-Rodriguez Marycarmen Godinez-Victoria Marco Aurelio Rodriguez-Monroy Adriana Jarillo-Luna Patricia Bonilla-Lemus Arturo Contis-Montes De Oca Saul Rojas-Hernandez 《Parasitology research》2013,112(10):3615-3625
We analyzed the possible role of glycoconjugates containing α-d-mannose and α-d-glucose residues in adherence of trophozoites to mouse nasal epithelium. Trophozoites incubated with 20 μg of one of three different lectins which preferentially recognized these residues were inoculated intranasally in Balb/c mice. Mouse survival was 40 % with Pisum sativum and Canavalia ensiformis and 20 % with Galanthus nivalis amebic pretreatment, compared with 0 % survival for control animals administered trophozoites without pretreatment. Possibly some of the glycoproteins found in Naegleria fowleri represent an adherence factor. Differences in the saccharide sequences of the Naegleria species, even on the same glycoconjugate structure, could explain the different results corresponding to the distinct pretreatments (C. ensiformis, G. nivalis, and P. sativum). We found a higher expression of glycoconjugates recognized by P. sativum in Naegleria lovaniensis than N. fowleri, probably due to the higher number of oligosaccharides containing an α-1,6-linked fucose moiety expressed on the former species. 相似文献
8.
Muñoz P Giannella M Valerio M Soria T Díaz F Longo JL Bouza E 《Diagnostic microbiology and infectious disease》2007,57(4):443-446
Infliximab, a tumor necrosis factor-alpha inhibitor, is increasingly used for the therapy of different inflammatory conditions. We report the first case of cryptococcal meningitis in a patient treated with infliximab and other immunosuppressive agents, and review a further 5 reported cryptococcal infections. All of them involved fungal pneumonia. Outcome was favorable in all cases. 相似文献
9.
Salgado-Galicia Norma Alicia Hernández-Doño Susana Ruiz-Gómez Daniela Jakez-Ocampo Juan Zúñiga Joaquín Vargas-Alarcón Gilberto Acuña Víctor Hernández María Teresa Márquez-García José Eduardo García-Lechuga Maricela Llorente Luis Lima Guadalupe Pineda Carlos Yu Neng Yunis Edmond Granados Julio 《Clinical rheumatology》2020,39(7):2151-2161
Clinical Rheumatology - Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disorder for which Major Histocompatibility Complex (MHC) genes are well-identified as risk factors. SLE... 相似文献