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191.
Bruno Silva Lina Pita Susana Gomes João Gonçalves Paula Faustino 《Annals of hematology》2014,93(12):2063-2066
Hereditary hemochromatosis is an autosomal recessive disorder characterized by severe iron overload. It is usually associated with homozygosity for the HFE gene mutation c.845G > A; p.C282Y. However, in some cases, another HFE mutation (c.187C > G; p.H63D) seems to be associated with the disease. Its penetrance is very low, suggesting the possibility of other iron genetic modulators being involved. In this work, we have screened for HAMP promoter polymorphisms in 409 individuals presenting normal or increased serum ferritin levels together with normal or H63D-mutated HFE genotypes. Our results show that the hepcidin gene promoter TG haplotype, originated by linkage of the nc.-1010C > T and nc.-582A > G polymorphisms, is more frequent in the HFE_H63D individuals presenting serum ferritin levels higher than 300 μg/L than in those presenting the HFE_H63D mutation but with normal serum ferritin levels or in the normal control group. Moreover, it was observed that the TG haplotype was associated to increased serum ferritin levels in the overall pool of HFE_H63D individuals. Thus, our data suggest that screening for these polymorphisms could be of interest in order to explain the phenotype. However, this genetic condition seems to have no clinical significance. 相似文献
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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
195.
Strozzi Alfonso Gastelum Peláez-Ballestas Ingris Granados Ysabel Burgos-Vargas Rubén Quintana Rosana Londoño John Guevara Sergio Vega-Hinojosa Oscar Alvarez-Nemegyei José Juarez Vicente Pacheco-Tena César Cedeño Ligia Garza-Elizondo Mario Santos Ana María Goycochea-Robles María Victoria Feicán Astrid García Hazel Julian-Santiago Flor Crespo María Elena Rodriguez-Amado Jacqueline Rueda Juan Camilo Silvestre Adriana Esquivel-Valerio Jorge Rosillo Celenia Gonzalez-Chavez Susana Alvarez-Hernández Everardo Loyola-Sanchez Adalberto Navarro-Zarza Eduardo Maradiaga Marco Casasola-Vargas Julio Sanatana Natalia Garcia-Olivera Imelda Goñi Mario Sanin Luz Helena Gamboa Rocío Cardiel Mario Humberto Pons-Estel Bernardo A. 《Clinical rheumatology》2020,39(9):2715-2726
Clinical Rheumatology - Although low back pain (LBP) is a high-impact health condition, its burden has not been examined from the syndemic perspective. To compare and assess clinical,... 相似文献
196.
Eva Siegenthaler Francisco M. Costela Michael B. McCamy Leandro L. Di Stasi Jorge Otero‐Millan Andreas Sonderegger Rudolf Groner Stephen Macknik Susana Martinez‐Conde 《The European journal of neuroscience》2014,39(2):287-294
Microsaccades are involuntary, small‐magnitude saccadic eye movements that occur during attempted visual fixation. Recent research has found that attention can modulate microsaccade dynamics, but few studies have addressed the effects of task difficulty on microsaccade parameters, and those have obtained contradictory results. Further, no study to date has investigated the influence of task difficulty on microsaccade production during the performance of non‐visual tasks. Thus, the effects of task difficulty on microsaccades, isolated from sensory modality, remain unclear. Here we investigated the effects of task difficulty on microsaccades during the performance of a non‐visual, mental arithmetic task with two levels of complexity. We found that microsaccade rates decreased and microsaccade magnitudes increased with increased task difficulty. We propose that changes in microsaccade rates and magnitudes with task difficulty are mediated by the effects of varying attentional inputs on the rostral superior colliculus activity map. 相似文献
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Miriam Araña Juan J. Gavira Estefanía Peña Arantxa González Gloria Abizanda Myriam Cilla Marta M. Pérez Edurne Albiasu Natalia Aguado Mayte Casado Begoña López Susana González Mario Soriano Cristina Moreno Juana Merino José M. García-Verdugo Javier Díez Manuel Doblaré Beatriz Pelacho Felipe Prosper 《Biomaterials》2014
Although transplantation of adipose-derived stem cells (ADSC) in chronic myocardial infarction (MI) models is associated with functional improvement, its therapeutic value is limited due to poor long-term cell engraftment and survival. Thus, the objective of this study was to examine whether transplantation of collagen patches seeded with ADSC could enhance cell engraftment and improve cardiac function in models of chronic MI. With that purpose, chronically infarcted Sprague–Dawley rats (n = 58) were divided into four groups and transplanted with media, collagen scaffold (CS), rat ADSC, or CS seeded with rat ADSC (CS-rADSC). Cell engraftment, histological changes, and cardiac function were assessed 4 months after transplantation. In addition, Göttingen minipigs (n = 18) were subjected to MI and then transplanted 2 months later with CS or CS seeded with autologous minipig ADSC (CS-pADSC). Functional and histological assessments were performed 3 months post-transplantation. Transplantation of CS-rADSC was associated with increased cell engraftment, significant improvement in cardiac function, myocardial remodeling, and revascularization. Moreover, transplantation of CS-pADSC in the pre-clinical swine model improved cardiac function and was associated with decreased fibrosis and increased vasculogenesis. In summary, transplantation of CS-ADSC resulted in enhanced cell engraftment and was associated with a significant improvement in cardiac function and myocardial remodeling. 相似文献